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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessIntellectual deficit - mental retardation, differential diagnosis

Summary

Short information

The very large panel comprises 1 guideline-curated and altogether more than 1290 curated genes, the mutations of which can trigger Intellectual deficit - mental retardation; WES technology and analysis via HPO terms

ID
MP7755
Number of genes
2 Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
1.002,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TecExom999999
  • No OMIM-Gs linked
n.k.
UBE3A2559NM_130838.4Ass

Informations about the disease

Clinical Comment

Mental retardation/developmental delay/intellectual disability (ID) is based on either congenital limitations or later developmental deficits before the age of 18. ID represents a heterogeneous group of disorders characterized by significantly impaired intellectual functioning and deficits in adaptive behaviors. It affects up to 1-3% of the population, but prevalences vary in different areas. Diagnosis of syndromal ID includes identified clinical symptoms such as speech delay, hypotonia and seizures. ID can be caused by a variety of environmental and genetic etiologies that are often combined. Although etiologic ID factors are broad, the ID cause remains unknown in 50% of affected individuals, with the most important causes being genetic. Previously, the genetic ID background was thought to be mainly inherited in an autosomal-dominant or X-linked manner or triggered by new mutations, respectively. In cases of intermarriage, autosomal recessive ID is more common. In addition to chromosomal aneuploidies and copy number variations, expanded tandem repeats in certain genes cause ID. It is likely that genetic changes in about 2000 human genes herald mendelian syndromes with ID as one component. Initial diagnostic steps should include classical and molecular karyotyping as well as exclusion of FMR1 repeat expansions, followed by analysis of limited panels according to the concomitant symptomatology. Finally, a large panel including genes with a high level of diagnostic evidence for involvement in disease causation will increase the diagnostic yield to a maximum of 50% of genetic cases. However, a negative molecular genetic result by no means excludes the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1384/

https://www.ncbi.nlm.nih.gov/books/NBK541730/

 

Synonyms
  • Alias: Intellectual deficit + small stature
  • Alias: Intellectual deficit, inborn error of metabolism
  • Alias: Intellectual deficit, non syndromic, AR
  • Alias: Intellectual disability
  • Alias: Intellectual disability + megalencephaly
  • Alias: Intellectual disability + microcephaly
  • Alias: Intellectual disability + short stature
  • Alias: Intellectual disability XL
  • Alias: Intellectual disability, AD
  • Alias: Intellectual disability, brain organic
  • Alias: Intellectual disability, cortical dysplasia
  • Alias: Intellectual disability, inborn error of metabolism
  • Alias: Intellectual disability, macrocephaly
  • Alias: Intellectual disability, metabolic disorder
  • Alias: Mental retardation, non syndromic, AR
  • Alias: Psycho-motor retardation
  • Alias: Psycho-motor retardation + megalencephaly
  • Alias: Psycho-motor retardation + microcephaly
  • Alias: Psycho-motor retardation + short stature
  • Alias: Psycho-motor retardation XL
  • Alias: Psycho-motor retardation, AD
  • Alias: Psycho-motor retardation, btrain organic
  • Alias: Psycho-motor retardation, cortical dysplasia
  • Alias: Psycho-motor retardation, inborn error of metabolism
  • Alias: Psycho-motor retardation, macrocephaly
  • Alias: Psycho-motor retardation, metabolic disorder
  • Allelic: 46XY sex reversal 11 (DHX37)
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Alcohol dependence, susceptibility to (GABRA2)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Aniridia (PAX6)
  • Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Allelic: Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
  • Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
  • Allelic: Asthma, susceptibility to (HNMT)
  • Allelic: Attention deficit-hyperactivity disorder [MONDO:0007743] (RFX7)
  • Allelic: Autism spectrum disorder [MONDO:0005258] (RFX7)
  • Allelic: Autism susceptibility 15 (CNTNAP2)
  • Allelic: Autism, susceptibility to, XL 5 (RPL10)
  • Allelic: Bardet-Biedl syndrome 1, modifier of (ARL6)
  • Allelic: Basal cell carcinoma, somatic (PTCH1)
  • Allelic: Basal cell nevus syndrome (PTCH1)
  • Allelic: Bladder cancer, somatic (HRAS, KRAS)
  • Allelic: Brachydactyly, type B1 (ROR2)
  • Allelic: Breast cancer, somatic (KRAS, PIK3CA)
  • Allelic: Brugada syndrome 3 (CACNA1C)
  • Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cataract 21, multiple types (MAF)
  • Allelic: Cataract 44 (LSS)
  • Allelic: Cataract with late-onset corneal dystrophy (PAX6)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Chondrocalcinosis 2 (ANKH)
  • Allelic: Chorea, hereditary benign (NKX2-1)
  • Allelic: Coloboma of optic nerve (PAX6)
  • Allelic: Coloboma, ocular (PAX6)
  • Allelic: Colorectal cancer, somatic (BRAF, CTNNB1, NRAS, PIK3CA)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
  • Allelic: Cowden syndrome 5 (PIK3CA)
  • Allelic: Craniosynostosis 1(TWIST1)
  • Allelic: Cutis laxa, AD 3 (ALDH18A1)
  • Allelic: Cutis laxa, AR, type IID (ATP6V1A)
  • Allelic: Cutis laxa, AR, type IIIA (ALDH18A1)
  • Allelic: DNA damage repair defect [panelapp] (ZNF668)
  • Allelic: Deafness, AD 20 (ACTG1)
  • Allelic: Deafness, AD 26 (ACTG1)
  • Allelic: Deafness, AD 78 (SLC12A2)
  • Allelic: Deafness, AD 83 (MAP1B)
  • Allelic: Deafness, AR 70 (PNPT1)
  • Allelic: Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
  • Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Dyskeratosis congenita, XL (DKC1)
  • Allelic: Dystonia 4, torsion, AD (TUBB4A)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Epidermal nevus, somatic (NRAS)
  • Allelic: Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
  • Allelic: Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
  • Allelic: Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 1 (SLC12A5)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
  • Allelic: Exostoses, multiple, type 2 (EXT2)
  • Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Facial clefting, oblique, 1 (SPECC1L)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Febrile seizures, familial, 8 (GABRG2)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
  • Allelic: Focal segmental glomerulosclerosis 9 (CRB2)
  • Allelic: Foveal hypoplasia 1 (PAX6)
  • Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
  • Allelic: Gastric cancer, somatic (KRAS, PIK3CA)
  • Allelic: Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
  • Allelic: Generalized epilepsy with febrile seizures plus, type 5, susceptibility to (GABRD)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
  • Allelic: Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
  • Allelic: Hennekam lymphangiectasia-lymphedema syndrome 2 (FAT4)
  • Allelic: Hepatocellular carcinoma, somatic (PIK3CA)
  • Allelic: Hydranencephaly with abnormal genitalia (ARX)
  • Allelic: Hydrocephalus, congenital, 1 (CCDC88C)
  • Allelic: Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Allelic: Hypotrichosis 14 (LSS)
  • Allelic: Infantile liver failure syndrome 2 (NBAS)
  • Allelic: Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: Keratitis (PAX6)
  • Allelic: Keratosis, seborrheic, somatic (PIK3CA)
  • Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Allelic: Leukemia, acute myeloid, somatic (KRAS)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Long QT syndrome 4 (ANK2)
  • Allelic: Lujan-Fryns syndrome (MED12)
  • Allelic: Lung cancer, somatic (KRAS)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Macrodactyly, somatic (PIK3CA)
  • Allelic: Meckel syndrome 12 (KIF14)
  • Allelic: Medulloblastoma, somatic (CTNNB1)
  • Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Meningioma (PTEN)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Microphthalmia with coloboma 5 (SHH)
  • Allelic: Microphthalmia, isolated, with coloboma 9 (TENM3)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
  • Allelic: Morning glory disc anomaly (PAX6)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (cong. without mental retardation), type B, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 (DPM3)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (DAG1)
  • Allelic: Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myoclonus, familial, 2 (SCN8A)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Myokymia (KCNQ2)
  • Allelic: Neonatal cholestatic liver disease [panelapp] (VPS50)
  • Allelic: Neurocutaneous melanosis, somatic (NRAS)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
  • Allelic: Nevus, epidermal, somatic (PIK3CA)
  • Allelic: Nicotine dependence, protection against (SLC6A3)
  • Allelic: Nicotine dependence, protection against + susceptibility to (GABBR2)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Nonsmall cell lung cancer, somatic (PIK3CA)
  • Allelic: Occipital horn syndrome (ATP7A)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: Ohdo syndrome, XL (MED12)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Optic atrophy 9 (ACO2)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Allelic: Orofacial cleft 11 (BMP4)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Osteoporosis, early-onset, susceptibility to, AD (WNT1)
  • Allelic: Ovarian cancer, somatic (CTNNB1, PIK3CA)
  • Allelic: Pancreatic agenesis 2 (PTF1A)
  • Allelic: Pancreatic carcinoma, somatic (KRAS)
  • Allelic: Parkinson disease 14, AR (PLA2G6)
  • Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Pigmentary disorder, reticulate, with systemic manifestations, XL (POLA1)
  • Allelic: Pilomatricoma, somatic (CTNNB1)
  • Allelic: Pitt-Hopkins like syndrome 1 (CNTNAP2)
  • Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
  • Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
  • Allelic: Polycystic liver disease 3 with/-out kidney cysts (ALG8)
  • Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff., neonatal lethal (ATAD3A)
  • Allelic: Premature ovarian failure 1 (FMR1_CCG)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Pseudohypoparathyroidism Ib (GNAS)
  • Allelic: Ptosis, congenital (ZFHX4)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
  • Allelic: Raynaud-Claes syndrome (CLCN4)
  • Allelic: Renal cell carcinoma, papillary, 1 (TEF3)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Allelic: Retinitis pigmentosa + erythrocytic microcytosis (TRNT1)
  • Allelic: Retinitis pigmentosa 55 (ARL6)
  • Allelic: Retinitis pigmentosa 59 (DHDDS)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Rhabdoid tumor predisposition syndrome (SMARCA4)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Allelic: Robinow-Sorauf syndrome (TWIST1)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS, NRAS)
  • Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Seizures, benign familial infantile, 5 (SCN8A)
  • Allelic: Seizures, benign neonatal, 1 (KCNQ2)
  • Allelic: Sick sinus syndrome 4 (GNB2)
  • Allelic: Single median maxillary central incisor (SHH)
  • Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
  • Allelic: Skin/hair/eye pigmentation 1, blond/brown hair (HERC2)
  • Allelic: Skin/hair/eye pigmentation 1, blue/nonblue eyes (HERC2)
  • Allelic: Spastic paraplegia 44, AR (GJC2)
  • Allelic: Spastic paraplegia 63 (AMPD2)
  • Allelic: Spastic paraplegia 83, AR (HPDL)
  • Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
  • Allelic: Stuttering, familial persistent, 1 (AP4E1)
  • Allelic: Subcortical laminar heterotopia (PAFAH1B1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Allelic: Thyroid carcinoma, follicular (MINPP1)
  • Allelic: Thyroid carcinoma, follicular, somatic (HRAS, NRAS)
  • Allelic: Transposition of the great arteries, dextro-looped 1 (MED13L)
  • Allelic: Treacher Collins syndrome 3 (POLR1C)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Vissers-Bodmer syndrome (CNOT1)
  • Allelic: Waardenburg syndrome, type 4C (SOX10)
  • Allelic: Waisman syndrome (RAB39B)
  • Allelic: Watson syndrome (NF1)
  • Allelic: Wrinkly skin syndrome (ATP6V0A2)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement + neutropenia (CLPB)
  • AICA-ribosiduria due to ATIC deficiency (ATIC)
  • Aarskog-Scott syndrome (FDG1)
  • Acampomelic campomelic dysplasia (SOX9)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Acrodysostosis 2, with/-out hormone resistance (PDE4D)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
  • Acyl-CoA dehydrogenase, short-chain, deficiency of (ACADS)
  • Adenylosuccinase deficiency (ADSL)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
  • Agenesis of the corpus callosum with peripheral neuropathy (SLC12A6)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Alexander disease (GFAP)
  • Alkuraya-Kucinskas syndrome (KIAA1109)
  • Alopecia-intellectual disability syndrome 4 (LSS)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Alzahrani-Kuwahara syndrome (SMG8)
  • Aminoacylase 1 deficiency (ACY1)
  • Amyotrophic lateral sclerosis 19 (ERBB4)
  • Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Angelman syndrome (UBE3A)
  • Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Aniridia (PAX6)
  • Aniridia, cerebellar ataxia + mental retardation [panelapp] (PAX6)
  • Arboleda-Tham syndrome (KAT6A)
  • Argininemia (ARG)
  • Argininosuccinic aciduria (ASL)
  • Aromatic L-amino acid decarboxylase deficiency (DDC)
  • Arthrogryposis multiplex congenita 5 (TOR1A)
  • Arthrogryposis, cleft palate, craniosynostosis, impaired intellectual development (PPP3CA)
  • Asparagine synthetase deficiency (ASNS)
  • Asperger syndrome susceptibility, XL (NLGN3)
  • Ataxia-telangiectasia (ATM)
  • Au-Kline syndrome (HNRNPK)
  • Autism susceptibility to, 17 (SHANK2)
  • Autism, susceptibility to, 18 (CHD8)
  • Ayme-Gripp syndrome (MAF)
  • BDV syndrome: Intellectual develpment disorder + hypogonaotropic hypogonadism (CPE)
  • Bachmann-Bupp syndrome (ODC1)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Baker-Gordon syndrome (SYT1)
  • Band heterotopia (EML1)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Baralle-Macken syndrome (COPB1)
  • Bardet-Biedl syndrome 1 (BBS1)
  • Bardet-Biedl syndrome 10 (BBS10)
  • Bardet-Biedl syndrome 12 (BBS12)
  • Bardet-Biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 3 (ARL6)
  • Bardet-Biedl syndrome 4 (BBS4)
  • Bardet-Biedl syndrome 5 (BBS5)
  • Bardet-Biedl syndrome 7 (BBS7)
  • Bardet-Biedl syndrome 9 (BBS9)
  • Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Beck-Fahrner syndrome (TET3)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Birk-Barel syndrome (KCNK9)
  • Blepharocheilodontic syndrome 2 (CTNND1)
  • Bloom syndrome (BLM)
  • Bohring-Opitz syndrome (ASXL1)
  • Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
  • Brachydactyly-mental retardation syndrome (HDAC4?)
  • Brain malformation, facial dysmorphism [panelapp] (ZNF668)
  • Brain malformations with/-out urinary tract defects (NFIA)
  • Brain small vessel disease 2 (COL4A2)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
  • Buratti-Harel syndrome (SIAH1)
  • CAPOS syndrome (ATP1A3)
  • CEBALID [craniofacial def., dysmorphic ears, brain abnormalities, language delay, ID] syndrome (MN1)
  • CHARGE syndrome (CHD7)
  • CHIME [Coloboma, cong. Heart defects, migratory Ichthyosiform dermatosis, MR, Ear anom.] s. (PIGL)
  • CHOPS syndrome (AFF4)
  • CIMDAG [Cereb. hypopl., Cataract, ID, Microceph., Dystonia, Anemia, Growth] syndrome (VPS4A)
  • CLAPO syndrome, somatic (PIK3CA)
  • CLOVE syndrome, somatic (PIK3CA)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Canavan disease (ASPA)
  • Cardiac, facial + digital anomalies with developmental delay (TRAF7)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebellar atrophy, developmental delay + seizures (KCNMA1)
  • Cerebellar atrophy, visual impairment + psychomotor retardation (EMC1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebellar hypoplasia/atrophy, epilepsy + global developmental delay (OXR1)
  • Cerebellar, ocular, craniofacial + genital syndrome (MAB21L1)
  • Cerebellofaciodental syndrome (BRF1)
  • Cerebral creatine deficiency syndrome 1 (SLC6A8)
  • Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (SNAP29)
  • Cerebral palsy, spastic quadriplegic, 3 (ADD3)
  • Cerebrocostomandibular syndrome (SNRPB)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4A [Kufs type], AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Chanarin-Dorfman syndrome (ABHD5)
  • Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
  • Charcot-Marie-Tooth disease, type 4B3 (SBF1)
  • Cherubism (SH3BP2)
  • Chilblain lupus (TREX1)
  • Chondrodysplasia punctata, XLR (ARSL)
  • Chopra-Amiel-Gordon syndrome (ANKRD17)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Chudley-McCullough syndrome (GPSM2)
  • Chung-Jansen syndrome (PHIP)
  • Ciliary dyskinesia, primary, 47, + lissencephaly (TP73)
  • Citrullinemia (ASS1)
  • Cleft palate, cardiac defects + mental retardation (MEIS2)
  • Cleft palate, psychomotor retardation + distinctive facial features (KDM1A)
  • Cockayne syndrome, type A (ERCC8)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 10 (SOX4)
  • Coffin-Siris syndrome 11 (SMARCD1)
  • Coffin-Siris syndrome 12 (BICRA)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • Coffin-Siris syndrome 6 (ARID2)
  • Coffin-Siris syndrome 7 (DPF2)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Coffin-Siris syndrome 9 (SOX11)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Cohen-Gibson syndrome (EED)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 12 (EARS2)
  • Combined oxidative phosphorylation deficiency 13 (PNPT1)
  • Combined oxidative phosphorylation deficiency 18 (SFXN4)
  • Combined oxidative phosphorylation deficiency 20 (VARS2)
  • Complex neurodevelopmental disorder [MONDO:0100038] (ANK2)
  • Congenital anomalies of kidney, urinary tract s. +- hearing loss, abn. ears, or devel. delay (PBX1)
  • Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
  • Congenital disorder of deglycosylation (NGLY1)
  • Congenital disorder of glycosylation, type 1aa (NUS1)
  • Congenital disorder of glycosylation, type IIa (MGAT2)
  • Congenital disorder of glycosylation, type IIb (MOGS)
  • Congenital disorder of glycosylation, type IIc (SLC35C1)
  • Congenital disorder of glycosylation, type IId (BGALT1)
  • Congenital disorder of glycosylation, type IIe (COG7)
  • Congenital disorder of glycosylation, type IIf (SLC35A1)
  • Congenital disorder of glycosylation, type IIg (COG1)
  • Congenital disorder of glycosylation, type IIh (COG8)
  • Congenital disorder of glycosylation, type IIi (COG5)
  • Congenital disorder of glycosylation, type IIj (COG4)
  • Congenital disorder of glycosylation, type IIk (TMEM165)
  • Congenital disorder of glycosylation, type IIl (COG6)
  • Congenital disorder of glycosylation, type IIm (SLC35A2)
  • Congenital disorder of glycosylation, type IIr (ATP6AP2)
  • Congenital disorder of glycosylation, type IIt (GALNT2)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Congenital disorder of glycosylation, type Ib (MPI)
  • Congenital disorder of glycosylation, type Ibb (DHDDS)
  • Congenital disorder of glycosylation, type Ic (ALG6)
  • Congenital disorder of glycosylation, type Id (ALG3)
  • Congenital disorder of glycosylation, type Ie (DPM1)
  • Congenital disorder of glycosylation, type If (MPDU1)
  • Congenital disorder of glycosylation, type Ig (ALG12)
  • Congenital disorder of glycosylation, type Ih (ALG8)
  • Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Congenital disorder of glycosylation, type Ik (ALG1)
  • Congenital disorder of glycosylation, type Il (ALG9)
  • Congenital disorder of glycosylation, type Im (DOLK)
  • Congenital disorder of glycosylation, type In (RFT1)
  • Congenital disorder of glycosylation, type Ip (ALG11)
  • Congenital disorder of glycosylation, type Iq (SRD5A3)
  • Congenital disorder of glycosylation, type Ir (DDOST)
  • Congenital disorder of glycosylation, type Is (ALG13)
  • Congenital disorder of glycosylation, type It (PGM1)
  • Congenital disorder of glycosylation, type Iu (DPM2)
  • Congenital disorder of glycosylation, type Iw, AD + AR (STT3A)
  • Congenital disorder of glycosylation, type Iy (SSR4)
  • Congenital heart defects + ectodermal dysplasia (PRKD1)
  • Congenital heart defects, dysmorphic facial features + intellectual developmental disorder (CDK13)
  • Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Congenital myopathy with excess of muscle spindles (HRAS)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 10 (APC2)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
  • Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
  • Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
  • Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
  • Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
  • Cortical malformations, occipital (LAMC3)
  • Costello syndrome (HRAS)
  • Cowden syndrome 1 (PTEN)
  • Cowden syndrome 5 (PIK3CA)
  • Craniometaphyseal dysplasia (ANKH)
  • Culler-Jones syndrome (GLI2)
  • Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Cutis laxa, AR, type IIA (ATP6V0A2)
  • D-2-hydroxyglutaric aciduria 2 (IDH2)
  • DEEAH syndrome: Developm. delay, Endocrine, Exocrine, Autonomic, Hematologic abn. (MADD)
  • DEGCAGS syndrome (ZNF699)
  • Danon disease (LAMP2)
  • Deafness, AD 75 (TRRAP)
  • Delpire-McNeill syndrome (SLC12A2)
  • Dentatorubral-pallidoluysian atrophy (ATN1)
  • Desanto-Shinawi syndrome (WAC)
  • Desbuquois dysplasia 2 (XYLT1)
  • Desmosterolosis (DHCR24)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Developmental + epileptic encephalopathy 11 (SCN2A)
  • Developmental + epileptic encephalopathy 13 (SCN8A)
  • Developmental + epileptic encephalopathy 14 (KCNT1)
  • Developmental + epileptic encephalopathy 15 (ST3GAL3)
  • Developmental + epileptic encephalopathy 17 (GNAO1)
  • Developmental + epileptic encephalopathy 19 (GABRA1)
  • Developmental + epileptic encephalopathy 24 (HCN1)
  • Developmental + epileptic encephalopathy 26 (KCNB1)
  • Developmental + epileptic encephalopathy 27 (GRIN2B)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Developmental + epileptic encephalopathy 30 (SIK1)
  • Developmental + epileptic encephalopathy 31 (DNM1)
  • Developmental + epileptic encephalopathy 32 (KCNA2)
  • Developmental + epileptic encephalopathy 33 (EEF1A2)
  • Developmental + epileptic encephalopathy 34 (SLC12A5)
  • Developmental + epileptic encephalopathy 36 (ALG13)
  • Developmental + epileptic encephalopathy 38 (ARV1)
  • Developmental + epileptic encephalopathy 4 (STXBP1)
  • Developmental + epileptic encephalopathy 41 (SLC1A2)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 43 (GABRB3)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Developmental + epileptic encephalopathy 46 (GRIN2D)
  • Developmental + epileptic encephalopathy 47 (FGF12)
  • Developmental + epileptic encephalopathy 48 (AP3B2)
  • Developmental + epileptic encephalopathy 50 (CAD)
  • Developmental + epileptic encephalopathy 54 (HNRNPU)
  • Developmental + epileptic encephalopathy 55 (PIGP)
  • Developmental + epileptic encephalopathy 56 (YWHAG)
  • Developmental + epileptic encephalopathy 57 (KCNT2)
  • Developmental + epileptic encephalopathy 58 (NTRK2)
  • Developmental + epileptic encephalopathy 59 (GABBR2)
  • Developmental + epileptic encephalopathy 61 (ADAM22)
  • Developmental + epileptic encephalopathy 62 (SCN3A)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Developmental + epileptic encephalopathy 65 (CYFIP2)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Developmental + epileptic encephalopathy 67 (CUX2)
  • Developmental + epileptic encephalopathy 69 (CACNA1E)
  • Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
  • Developmental + epileptic encephalopathy 7 (KCNQ2)
  • Developmental + epileptic encephalopathy 70 (PHACTR1)
  • Developmental + epileptic encephalopathy 71 (GLS)
  • Developmental + epileptic encephalopathy 72 (NEUROD2)
  • Developmental + epileptic encephalopathy 73 (RNF13)
  • Developmental + epileptic encephalopathy 74 (GABRG2)
  • Developmental + epileptic encephalopathy 76 (ACTL6B)
  • Developmental + epileptic encephalopathy 78 (GABRA2)
  • Developmental + epileptic encephalopathy 80 (PIGB)
  • Developmental + epileptic encephalopathy 83 (UGP2)
  • Developmental + epileptic encephalopathy 84 (UGDH)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Developmental + epileptic encephalopathy 87 (CDK19)
  • Developmental + epileptic encephalopathy 89 (GAD1)
  • Developmental + epileptic encephalopathy 91 (PPP3CA)
  • Developmental + epileptic encephalopathy 92 (GABRB2)
  • Developmental + epileptic encephalopathy 93 (ATP6V1A)
  • Developmental + epileptic encephalopathy 94 (CHD2)
  • Developmental + epileptic encephalopathy 95 (PIGS)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Developmental + epileptic encephalopathy 99 (ATP1A3)
  • Developmental delay + seizures with/-out movement abnormalities (DHDDS)
  • Developmental delay with dysmorphic facies + dental anomalies (SATB1)
  • Developmental delay with variable intellectual impairment + behavioral abnormalities (TCF20)
  • Developmental delay with variable neurologic + brain abnormalities (LMBRD2)
  • Developmental delay with/-out dysmorphic facies + autism (TRRAP)
  • Developmental delay, AR, intellectual disability + microcephaly (NAA20)
  • Developmental delay, ID, neurodeg., epilepsy, facial dysmorph., cong. anomalies [panelapp] (H3F3B)
  • Developmental delay, impaired growth, dysmorphic facies + axonal neuropathy (MORC2)
  • Developmental delay, short stature, dysmorphic facial features + sparse hair (DPH1)
  • Developmental disorders, ID, dysmorphic features [panelapp] (ZFHX4)
  • Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
  • Dias-Logan syndrome (BCL11A)
  • Dicarboxylic aminoaciduria (SLC1A1)
  • Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
  • Diets-Jongmans syndrome (KDM3B)
  • Dihydropyrimidinuria (DPYS)
  • Dravet syndrome (SCN1A)
  • Dystonia 32 (VPS11)
  • Dystonia 33 (EIF2AK2)
  • Dystonia 34, myoclonic (KCNN2)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia 9 (SLC2A1)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia-1, torsion (TOR1A)
  • Dystonia-12 (ATP1A3)
  • Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • Encephalopathy, progressive, early-onset, with brain atrophy + thin corpus callosum (TBCD)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Epilepsy nocturnal frontal lobe, 5 (KCNT1)
  • Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
  • Epilepsy, early-onset, vitamin B6-dependent (PLPBP)
  • Epilepsy, early-onset, with/-out developmental delay (SETD1A)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, familial focal, with variable foci 4 (SCN3A)
  • Epilepsy, focal, with speech disorder + with/-out impaired intellectual development (GRIN2A)
  • Epilepsy, focal, with speech disorder + with/-out mental retardation (GRIN21A)
  • Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
  • Epilepsy, idiopathic generalized, 10 (GABRD)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Epilepsy, intellectual disability, microcephaly [panelapp] (ATP6V0C)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Epilepsy, progressive myoclonic 7 (KCNC1)
  • Epilepsy, pyridoxine-dependent (ALDH7A1)
  • Epileptic encephalopathy, early infantile, 1 (ARX)
  • Epileptic encephalopathy, early infantile, 11 (SCN2A)
  • Epileptic encephalopathy, early infantile, 12 (PLCB1)
  • Epileptic encephalopathy, early infantile, 13 (SCN8A)
  • Epileptic encephalopathy, early infantile, 14 (KCNT1)
  • Epileptic encephalopathy, early infantile, 15 (ST3GAL3)
  • Epileptic encephalopathy, early infantile, 16 (TBC1D24)
  • Epileptic encephalopathy, early infantile, 17 (GNAO1)
  • Epileptic encephalopathy, early infantile, 18 (SZT2)
  • Epileptic encephalopathy, early infantile, 19 (GABRA1)
  • Epileptic encephalopathy, early infantile, 2 (CDKL5)
  • Epileptic encephalopathy, early infantile, 21 (NECAP1)
  • Epileptic encephalopathy, early infantile, 3 (SLC25A22)
  • Epileptic encephalopathy, early infantile, 4 (STXBP1)
  • Epileptic encephalopathy, early infantile, 5 (SPTAN1)
  • Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Epileptic encephalopathy, early infantile, 69 (CACNA1E)
  • Epileptic encephalopathy, early infantile, 7 (KCNQ2)
  • Epileptic encephalopathy, early infantile, 8 (ARHGEF9)
  • Epileptic encephalopathy, early infantile, 9 (PCDH19)
  • Epileptic encephalopathy, infantile or early childhood, 1 (PPP3CA)
  • Epileptic encephalopathy, infantile or early childhood, 2 (GABRB2)
  • Epileptic encephalopathy, infantile or early childhood, 3 (ATP6V1A)
  • Episodic ataxia, type 2 (CACNA1A)
  • FG syndrome 4 (CASK)
  • Failure to thrive, profound global developmental delay, postnatal microcephaly [panelapp] (VPS50)
  • Fanconi anemia, complementation group P (SLX4)
  • Farber lipogranulomatosis (ASAH1)
  • Faundes-Banka syndrome (EIF5A)
  • Febrile seizures, familial, 3A (SCN1A)
  • Feingold syndrome 1 (MYCN)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic facies (ATP1A2)
  • Filippi syndrome (CKAP2L)
  • Floating-Harbor syndrome (SCAP)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Focal cortical dysplasia, type II, somatic (TSC1)
  • Focal cortical dysplasia, type II, somatic (TSC2)
  • Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
  • Fragile X syndrome (FMR1)
  • Fragile X syndrome (FMR1_CCG)
  • GABA-transaminase deficiency (ABAT)
  • GAND syndrome, GATAD2B-Associated Neurodevelopmental Disorder (GATAD2B)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • GNAI1 syndrome (GNAI1)
  • Gabriele-de Vries syndrome (YY1)
  • Galactose epimerase deficiency (GALE)
  • Galactosemia (GALT)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Galloway-Mowat syndrome 6 (WDR4)
  • Gaucher disease, atypical (PSAP)
  • Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
  • Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
  • Generalized epilepsy with febrile seizures plus, type 3 (GABRG2)
  • Generalized epilepsy with febrile seizures plus, type 9 (STX1B)
  • Genitopatellar syndrome (KAT6B)
  • Genitourinary and/or/brain malformation syndrome (PPP1R12A)
  • Gillespie syndrome (ITPR1)
  • Gillessen-Kaesbach-Nishimura syndrome (ALG9)
  • Glass syndrome (SATB2)
  • Global developmental delay [HP:0001263; panelapp] (KCND2)
  • Global developmental delay [panelapp] (RAB11A)
  • Global developmental delay with speech + behavioral abnormalities (TNRC6B)
  • Global developmental delay with/-out impaired intellectual development (CUX1)
  • Global developmental delay, ID, abnormal brain morphology, microcephaly [panelapp] (KIF21B)
  • Global developmental delay, ID, autism [panelapp] (CSDE1)
  • Global developmental delay, ID, autism, ADHD, myopia, abnormal skeletal system [panelapp] (TCF7L2)
  • Global developmental delay, ID, autism, behavior, abnormal movement, myoclonus [paleapp] (CAMK4)
  • Global developmental delay, ID, autism, behavioral abnorm. [panelapp] (BRSK2)
  • Global developmental delay, ID, autism, myocl. atonic seiz., abn. nervous system [panelap] (SYNCRIP)
  • Global developmental delay, ID, delayed speech, developmental regression, behavior (PALS1)
  • Global developmental delay, ID, generalized hypotonia, autism (AGO1)
  • Global developmental delay, ID, generalized hypotonia, seizures [panelapp] (SNX27)
  • Global developmental delay, ID, macrocephal, alopecia, ectodermal dysplasia (ODC1)
  • Global developmental delay, ID, postn. microceph., failure thrive, abn. abdomen [panelapp] (ATP9A)
  • Global developmental delay, ID, seizures, autism, behavior, psychosis, pachygyria+[panelapp](PIDD1)
  • Global developmental delay, ID, seizures, microcephaly, short digit [panelapp] (HNRNPR)
  • Global developmental delay, muscular hypotonia, ID, polyneuropathy [panelapp] (NUDT2)
  • Global developmental delay, neurodevelopmental disorder [panelapp] (PRICKLE2)
  • Global developmental delay, progressive ataxia, elevated glutamine (GLS)
  • Glutaricaciduria, type I (GCDH)
  • Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
  • Glycosylphosphatidylinositol biosynthesis defect 16 (PIGC)
  • Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
  • Griscelli syndrome, type 1 (MYO5A)
  • Growth delay, microcephaly + ID [panelapp] (HIST1H4C)
  • Growth delay, microcephaly + intellectual disability [panelapp] (HIST1H4C)
  • Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
  • Growth retardation, intellectual developmental disorder, hypotonia + hepatopathy (IARS)
  • HNRNPH1‐related syndromic ID [panelapp] (HNRNPH1)
  • Hao-Fountain syndrome [ID, impaired speech, behavior abnorm., dysmorphic face] (USP7)
  • Harel-Yoon syndrome (ATAD3A)
  • Hawkinsinuria (HPD)
  • Helsmoortel-van der Aa syndrome (ADNP)
  • Hermansky-Pudlak syndrome 2 (AP3B1)
  • Heterotopia, periventricular, 1 (FLNA)
  • Heyn-Sproul-Jackson syndrome (DNMT3A)
  • Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
  • Holoprosencephaly 11 (CDON)
  • Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
  • Holoprosencephaly 13, XL (STAG2)
  • Holoprosencephaly 2 (SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 4 (TGIF1)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 7 (PTCH1)
  • Holoprosencephaly 9 (GLI2)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Hyperekplexia 4 (ATAD1)
  • Hyperglycinemia, lactic acidosis + seizures (LIAS)
  • Hyperlysinemia (AASS)
  • Hypermethioninemia due to adenosine kinase deficiency (ADK)
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (AHCY)
  • Hyperphenylalaninemia, BH4-deficient, A (PTS)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hyperphenylalaninemia, BH4-deficient, C (QDPR)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
  • Hyperphosphatasia with mental retardation syndrome 3 (PGAP2)
  • Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
  • Hyperphosphatasia with mental retardation syndrome 5 (PIGW)
  • Hyperphosphatasia with mental retardation syndrome 6 (PIGY)
  • Hyperprolinemia, type II (ALDH4A1)
  • Hypertrichotic osteochondrodysplasia (ABCC9)
  • Hyperuricemia, pulmonary hypertension, renal failure + alkalosis (SARS2)
  • Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Hypomagnesemia, seizures + mental retardation (CNNM2)
  • Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
  • Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Hypomyelination + atrophy of basal ganglia + cerebellum [panelapp] (TUBB4A)
  • Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
  • Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia (PAX8)
  • Hypothyroidism, congenital, nongoitrous, 6 (THRA)
  • Hypotonia, ataxia + delayed development syndrome (EBF3)
  • Hypotonia, ataxia, developmental delay + tooth enamel defect syndrome (CTBP1)
  • Hypotonia, hypoventilation, impaired intell. develop., dysautonomia, epilepsy, eye abnorm. (P4HTM)
  • Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
  • ID [MONDO:0001071, panelapp] (PTPN4)
  • ID [MONDO:0001071, panelapp] (RFX7)
  • ID [MONDO:0001071], autism spectrum disorder [MONDO:0005258] (RFX4)
  • ID [MONDO:0001071], autism spectrum disorder [MONDO:0005258], ADHS [MONDO: 0007743] (RFX3)
  • ID [MONDO:0001071], epilepsy [MONDO:0005027; panelapp] (ARFGEF1)
  • ID [MONDO:0001071], epilepsy [MONDO:0005027; panelapp] (CHD5)
  • ID [MONDO:0001071], microcephaly [MONDO:0001149], short stature [HP:0004322] (WDR11)
  • ID [panelapp] (CTCF)
  • ID [panelapp] (KLF7)
  • ID, Parkinsonism [panelapp] (PTRHD1)
  • ID, autism [panelapp] (NCKAP1)
  • ID, general hypotonia, developm. delay, seizures, autistic behavior [panelapp] (TRPM3)
  • ID, language impairment, autism, behavioral abnormality (NR4A2)
  • ID, microcephaly, cataracts, epilepsy, hypertonia, dystonia [panelapp] (ZNF526)
  • ID, microcephaly, heart def., cleft palate, contractures, hearing, skin creases [panelapp] (FBRSL1)
  • ID, neurodevelopmental syndrome [panelapp] (JARID2)
  • ID, postnatal microcephaly, failure to thrive, abnormal abdomen [panelapp] (ATP9A)
  • ID, postnatal microcephaly, hypotonia, failure to thrive [panelapp] (SMARCA5)
  • ID, speech disorder [panelapp] (LINGO4)
  • IMAGE syndrome (CDKN1C)
  • Imagawa-Matsumoto syndrome (SUZ12)
  • Immunodeficiency 23: ID, skeletal dysplasia, short stature, brachydactyly, facial features... (PGM3)
  • Immunodeficiency 33 (IKBKG)
  • Incontinentia pigmenti (IKBKG)
  • Infantile cataract, skin abnormalities, glutamate excess, impaired intellectual development (GLS)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Infantile liver failure syndrome 1 (LARS)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual developmental disorder + microcephaly with pontine + cereb. hypoplasia (CASK)
  • Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
  • Intellectual developmental disorder 60 with seizures (AP2M1)
  • Intellectual developmental disorder 62 (DLG4)
  • Intellectual developmental disorder with abnormal behavior, microcephaly + short stature (PUS7)
  • Intellectual developmental disorder with autism + speech delay (TBR1)
  • Intellectual developmental disorder with autistic features, language delay, +/- seizures (TANC2)
  • Intellectual developmental disorder with dysmorphic facies + ptosis (BRPF1)
  • Intellectual developmental disorder with dysmorphic facies, behavioral abnormalities (FBXO11)
  • Intellectual developmental disorder with hypotonia + behavioral abnormalities (CDK8)
  • Intellectual developmental disorder with hypotonia, impaired speech, dysmorphic facies (TNPO2)
  • Intellectual developmental disorder with impaired language + dysmorphic facies (DDX6)
  • Intellectual developmental disorder with macrocephaly, seizures + speech delay (PAK1)
  • Intellectual developmental disorder with poor growth with/-out seizures or ataxia (ABCA2)
  • Intellectual developmental disorder with seizures + language delay (SETD1B)
  • Intellectual developmental disorder with severe speech + ambulation defects (ACTL6B)
  • Intellectual developmental disorder with speech delay + axonal peripheral neuropathy (NEMF)
  • Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
  • Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
  • Intellectual developmental disorder, AD 13 (DYNC1H1)
  • Intellectual developmental disorder, AD 26 (AUTS2)
  • Intellectual developmental disorder, AD 34 (CERT1 syn. COL4A3BP)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
  • Intellectual developmental disorder, AD 55, with seizures (NUS1)
  • Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
  • Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
  • Intellectual developmental disorder, AD 65 (KDM4B)
  • Intellectual developmental disorder, AR 12 (ST3GAL3)
  • Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
  • Intellectual developmental disorder, AR 38 (HERC2)
  • Intellectual developmental disorder, AR 45 (FBXO31)
  • Intellectual developmental disorder, AR 51 (HNMT)
  • Intellectual developmental disorder, AR 70 (RSRC1)
  • Intellectual developmental disorder, AR 71 (ALKBH8)
  • Intellectual developmental disorder, AR 72 (METTL5)
  • Intellectual developmental disorder, XL 107 (STEEP1 syn. CXorf56)
  • Intellectual developmental disorder, XL 109 (AFF2)
  • Intellectual developmental disorder, XL 29 (ARX)
  • Intellectual developmental disorder, XL 50 (SYN1)
  • Intellectual developmental disorder, XL syndromic, Christianson type (SLC9A6)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Intellectual developmental disorder, XL, syndromic, Armfield type (FAM50A)
  • Intellectual developmental disorder, XL, syndromic, Hedera type (ATP6AP2)
  • Intellectual developmental disorder, XL, syndromic, Wu type (GRIA3)
  • Intellectual developmental disorder, XL, syndromic, pigmentary mosaicism + coarse facies (TEF3)
  • Intellectual developmental disorder, behavioral abnorm., craniofacial dysmorph. +- seizures (PHF21A)
  • Intellectual developmental disorder, dysmorphic facies, seizures, distal limb anomalies (OTUD6B)
  • Intellectual developmental disorder, dysmorphic facies, speech delay, T-cell abnormalities (BCL11B)
  • Intellectual developmental disorder, hypotonia + behavioral abnormalities (CDK8)
  • Intellectual developmental disorder, hypotonia, impaired speech, dysmorphic face (TNPO2)
  • Intellectual developmental disorder, macrocephaly, seizures + speech delay (PAHK1)
  • Intellectual developmental disorder, nasal speech, dysmorphic facies, variable skel. anom. (CNOT2)
  • Intellectual developmental disorder, seizures + language delay (SETD1B)
  • Intellectual developmental disorder, short stature + behavioral abnormalities (IQSEC1)
  • Intellectual developmental disorder, short stature, facial anomalies + speech defects (FBXL3)
  • Intellectual disability [MONDO:0001071] (HEATR5B)
  • Intellectual disability [panelapp] (ACTL6A)
  • Intellectual disability [panelapp] (BRSK2)
  • Intellectual disability [panelapp] (CSDE1)
  • Intellectual disability [panelapp] (RAB11A)
  • Intellectual disability, developmental delay (TAOK1)
  • Intellectual disability, microcephaly [panelapp] (BRD4)
  • Intellectual disability, seizures, postnatal microcephaly, short digit [panelapp] (HNRNPR)
  • Jaberi-Elahi syndrome (GTPBP2)
  • Jansen de Vries syndrome (PPM1D)
  • Jawad syndrome (RBBP8)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 13 (TCTN1)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 15 (CEP41)
  • Joubert syndrome 16 (TMEM138)
  • Joubert syndrome 17 (CPLANE1 syn. C5orf42)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 22 (PDE6D)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 25 (CEP104)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 30 (ARMC9)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 33 (PIBF1)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 36 (FAM149B1)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 1 (KMT2D)
  • Kahrizi syndrome (SRD5A3)
  • Kaya-Barakat-Masson syndrome (YIF1B)
  • Keipert syndrome (GPC4)
  • Kenny-Caffey syndrome, type 2 (FAM111A)
  • Keppen-Lubinsky syndrome (KCNJ6)
  • Kilquist syndrome (SLC12A2)
  • Kleefstra syndrome 1 (EHMT1)
  • Kleefstra syndrome 2 (KMT2C)
  • Kohlschütter-Tönz syndrome-like (SATB1)
  • Koolen-De Vries syndrome (KANSL1)
  • Krabbe disease, atypical (PSAP)
  • Kufor-Rakeb syndrome (ATP13A2)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Lamb-Shaffer syndrome (SOX5)
  • Lathosterolosis (SC5D)
  • Legius syndrome (SPRED1)
  • Lenz-Majewski hyperostotic dwarfism (PTDSS1)
  • Lessel-Kreienkamp syndrome (AGO2)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Leukodystrophy, hypomyelinating, 10 (PYCR2)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 12 (VPS11)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukodystrophy, hypomyelinating, 18 (DEGS1)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 3 (AIMP)
  • Leukodystrophy, hypomyelinating, 4 (HSPD1)
  • Leukodystrophy, hypomyelinating, 5 (FAM126A)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotr. hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotr. hypogonadism (POLR3B)
  • Leukodystrophy, hypomyelinating, 9 (RARS)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B5)
  • Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
  • Leukoencephalopathy, developmental delay, episodic neurologic regression syndrome (EIF2AK2)
  • Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
  • Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
  • Lhermitte-Duclos syndrome (PTEN)
  • Li-Campeau syndrome (UBR7)
  • Li-Ghorgani-Weisz-Hubshman syndrome (KAT8)
  • Liang-Wang syndrome (KCNMA1)
  • Lipoyltransferase 1 deficiency (LIPT1)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 10 (CEP85L)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 [with microcephaly] (NDE1)
  • Lissencephaly 5 (LAMB1)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly 7 with cerebellar hypoplasia (CDK5)
  • Lissencephaly 8 (TMTC3)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly [panelapp] (PIDD1)
  • Lissencephaly most severe grade (YWHAE deletion)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Luscan-Lumish syndrome (SETD2)
  • MEDNIK syndrome: MR, Enteropathy, Deaf, peripheral Neuropathy, Ichthyosis + Keratoderma (AP1S1)
  • MIRAGE syndrome (SAMD9)
  • Macrocephaly, acquired, with impaired intellectual development (NFIB)
  • Macrocephaly, dysmorphic facies, and psychomotor retardation (HERC1)
  • Macrocephaly/autism syndrome (PTEN)
  • Macrocephaly/megalencephaly syndrome, AR (TBC1D7)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Marshall-Smith syndrome (NFIX)
  • Martsolf syndrome 2 (RAB3GAP1)
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with/-out MR (HEPACAM)
  • Megalencephalic leukoencephalopathy, subcortical cysts (MLC1)
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Meier-Gorlin syndrome, microcephaly, intellectual disability [panelapp] (MCM7)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • Menkes disease (ATP7A)
  • Mental retardation + distinctive facial features with/-out cardiac defects (MED13L)
  • Mental retardation syndrome, XL, Siderius type (PHF8)
  • Mental retardation with language impairment + with/-out autistic features (FOXP1)
  • Mental retardation, AD 1 (MBD5)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, AD 21 (CTCF)
  • Mental retardation, AD 22 (ZBTB18)
  • Mental retardation, AD 23 (SETD5)
  • Mental retardation, AD 29 (SETBP1)
  • Mental retardation, AD 3 (CDH15)
  • Mental retardation, AD 30 (ZMYND11)
  • Mental retardation, AD 33 (DPP6)
  • Mental retardation, AD 34 (COL4A3BP)
  • Mental retardation, AD 35 (PPP2R5D)
  • Mental retardation, AD 36 (PPP2R1A)
  • Mental retardation, AD 38 (EEF1A2)
  • Mental retardation, AD 39 (MYT1L)
  • Mental retardation, AD 40 (CHAMP1)
  • Mental retardation, AD 41 (TBL1XR1)
  • Mental retardation, AD 42 (GNB1)
  • Mental retardation, AD 43 (HIVEP2)
  • Mental retardation, AD 45 (CIC)
  • Mental retardation, AD 46 (KCNQ5)
  • Mental retardation, AD 48 (RAC1)
  • Mental retardation, AD 49 (TRIP12)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, AD 51 (KMT5B)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AD 53 (CAMK2A)
  • Mental retardation, AD 54 (CAMK2B)
  • Mental retardation, AD 56 (CLTC)
  • Mental retardation, AD 57 (TLK2)
  • Mental retardation, AD 58 (SET)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 13 (TRAPPC9)
  • Mental retardation, AR 3 (CC2D1A)
  • Mental retardation, AR 34, with variant lissencephaly (CRADD)
  • Mental retardation, AR 36 (ADAT3)
  • Mental retardation, AR 41 (KPTN)
  • Mental retardation, AR 46 (NDST1)
  • Mental retardation, AR 47 (FMN2)
  • Mental retardation, AR 5 (NSUN2)
  • Mental retardation, AR 53 (PIGG)
  • Mental retardation, AR 58 (ELP2)
  • Mental retardation, AR 6 (GRIK2)
  • Mental retardation, AR 60 (TAF13)
  • Mental retardation, AR 63 (CAMK2A)
  • Mental retardation, AR 67 (EIF3F)
  • Mental retardation, AR 68 (TRMT1)
  • Mental retardation, XL 1/78 (IQSEC2)
  • Mental retardation, XL 104 (FRMPD4)
  • Mental retardation, XL 106 (OGT)
  • Mental retardation, XL 12/35 (THOC2)
  • Mental retardation, XL 15 (CLCN4)
  • Mental retardation, XL 21/34 (IL1RAPL1)
  • Mental retardation, XL 29 + others (ARX)
  • Mental retardation, XL 30/47 (PAK3)
  • Mental retardation, XL 41 (GDI1)
  • Mental retardation, XL 49 (CLCN4)
  • Mental retardation, XL 58 (TSPAN)
  • Mental retardation, XL 63 (ACSL4)
  • Mental retardation, XL 72 (RAB39B)
  • Mental retardation, XL 9/44 (FTSJ1)
  • Mental retardation, XL 90 (DLG3)
  • Mental retardation, XL 93 (BRWD3)
  • Mental retardation, XL 96 (SYP)
  • Mental retardation, XL 97 (ZNF711)
  • Mental retardation, XL 98 (NEXMIF)
  • Mental retardation, XL 99 (USP9X)
  • Mental retardation, XL syndromic, Turner type (HUWE1)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Mental retardation, XL, syndromic 14 (UPF3B)
  • Mental retardation, XL, syndromic 15, Cabezas type (CUL4B)
  • Mental retardation, XL, syndromic 34 (NONO)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Mental retardation, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, with/-out nystagmus (CASK)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Methylmalonic aciduria and homocystinuria, cblJ type (ABCD4)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly + chorioretinopathy, AR, 2 (PLK4)
  • Microcephaly 1, primary, AR (MCPH1)
  • Microcephaly 10, primary, AR (ZNF335)
  • Microcephaly 12, primary, AR (CDK6)
  • Microcephaly 13, primary, AR (CENPE)
  • Microcephaly 17, primary, AR (CIT)
  • Microcephaly 18, primary, AD (WDFY3)
  • Microcephaly 19, primary, AR (COPB2)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 20, primary, AR (KIF14)
  • Microcephaly 26, primary, AD (LMNB1)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 4, primary, AR (KNL1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly 8, primary, AR (CEP135)
  • Microcephaly 9, primary, AR (CEP152)
  • Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
  • Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
  • Microcephaly, developmental delay + brittle hair syndrome (CARS1)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, epilepsy + diabetes syndrome 2 (YIPF5)
  • Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
  • Microcephaly, growth deficiency, seizures + brain malformations (WDR4)
  • Microcephaly, growth deficiency, severe global developmental delay [panelapp] (ZNF668)
  • Microcephaly, intellectual disability, epilepsy [panelapp] (AGMO)
  • Microcephaly, postnatal progressive, with seizures + brain atrophy (MED17)
  • Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS1)
  • Microcephaly, seizures, developmental delay (PNKP)
  • Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
  • Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
  • Microcephaly, short stature + limb abnormalities (DONSON)
  • Microcephaly, short stature, polymicrogyria with seizures (RTTN)
  • Microcephaly, short stature, polymicrogyria with seizures (SASS6)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Microcephaly-micromelia syndrome (DONSON)
  • Microphthalmia, syndromic 12 (RARB)
  • Microphthalmia, syndromic 15 (TENM3)
  • Microphthalmia, syndromic 3 (SOX2)
  • Microphthalmia, syndromic 5 (OTX2)
  • Microphthalmia, syndromic 6 (BMP4)
  • Microphthalmia/coloboma + skeletal dysplasia syndrome (MAB21L2)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Mitchell syndrome (ACOX1)
  • Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
  • Mitochondrial complex I deficiency, nuclear type 20 (ACAD9)
  • Mitochondrial complex III deficiency, nuclear type 8 (LYRM7)
  • Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
  • Mowat-Wilson syndrome (ZEB2)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
  • Mullegama-Klein-Martinez syndrome (STAG2)
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypop., hydranencephaly (CEP55)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 4 (PIGQ)
  • Multiple congenital anomalies-neurodevelopmental syndrome, XL (OTUD5)
  • Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
  • Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (RXYLT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy (cong. with impaired intell. development), type B, 15 (DPM3)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retardation), type B, 5 (FKRP)
  • Myasthenic syndrome, congenital, 18 (SNAP25)
  • Myhre syndrome (SMAD4)
  • Myoclonic-atonic epilepsy (SLC6A1)
  • Myoclonus, familial, 2 (SCN8A)
  • Myoclonus, intractable, neonatal (KIF5A)
  • Myotonic dystrophy 1 (DMPK)
  • NESCAV syndrome (KIF1A)
  • Nabais Sa-de Vries syndrome, type 1 + type 2 (SPOP)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
  • Neurodegeneration, infantile-onset, biotin-responsive (SLC5A6)
  • Neurodevelopmental abnormality [HP:0012759; panelapp] (PCDHGC4)
  • Neurodevelopmental delay, growth delay, microcephaly, muscular hypotonia (NSD2)
  • Neurodevelopmental disorder (CACNA1I)
  • Neurodevelopmental disorder +- anomalies of the brain, eye or heart (RERE)
  • Neurodevelopmental disorder +- early-onset generalized epilepsy (NBEA)
  • Neurodevelopmental disorder +- hyperkinetic movements + seizures, AD (GRIN1)
  • Neurodevelopmental disorder +- variable brain abnormalities (MAPK8IP3)
  • Neurodevelopmental disorder [panelapp] (PGM2L1)
  • Neurodevelopmental disorder with absent language + variable seizures (WASF1)
  • Neurodevelopmental disorder with ataxia, hypotonia + microcephaly (SVBP)
  • Neurodevelopmental disorder with brain anomalies with/-out vertebral/cardiac anomalies (DHX37)
  • Neurodevelopmental disorder with cardiomyopathy, spasticity + brain abnormalities (SHMT2)
  • Neurodevelopmental disorder with cerebellar atrophy + motor dysfunction (GEMIN5)
  • Neurodevelopmental disorder with cerebral atrophy + variable facial dysmorphism (TTC5)
  • Neurodevelopmental disorder with coarse facies + mild distal skeletal abnormalities (KDM6B)
  • Neurodevelopmental disorder with dysmorphic facies + distal limb anomalies (BPTF)
  • Neurodevelopmental disorder with dysmorphic facies + distal skeletal anomalies (ZMIZ1)
  • Neurodevelopmental disorder with dysmorphic facies + thin corpus callosum (SUPT16H)
  • Neurodevelopmental disorder with dysmorphic facies + variable seizures (EMC10)
  • Neurodevelopmental disorder with dysmorphic facies, impaired speech + hypotonia (MADD)
  • Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, brain abnormalities (KAT5)
  • Neurodevelopmental disorder with dystonia [panelapp] (IMPDH2)
  • Neurodevelopmental disorder with hypotonia + brain abnormalities (CLCN3)
  • Neurodevelopmental disorder with hypotonia and dysmorphic facies (GNB2)
  • Neurodevelopmental disorder with hypotonia, autistic features +/- hyperkinetic moves (VAMP2)
  • Neurodevelopmental disorder with hypotonia, cerebellar atrophy, with/-out seizures (PIGK)
  • Neurodevelopmental disorder with hypotonia, craniofacial abnormalities + seizures (SNIP1)
  • Neurodevelopmental disorder with hypotonia, gross motor + seech delay (UBE4A)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language, +/- seizures (DEAF1)
  • Neurodevelopmental disorder with hypotonia, microcephaly + seizures (ADARB1)
  • Neurodevelopmental disorder with hypotonia, neuropathy + deafness (SPTBN4)
  • Neurodevelopmental disorder with hypotonia, seizures + absent language (HECW2)
  • Neurodevelopmental disorder with hypotonia, variable intellectual, behavioral abnormalities (POLR2A)
  • Neurodevelopmental disorder with infantile epileptic spasms (NCDN)
  • Neurodevelopmental disorder with involuntary movements (GNAO1)
  • Neurodevelopmental disorder with language impairment + behavioral abnormalities (GRIA2)
  • Neurodevelopmental disorder with microcephaly + gray sclerae (PUS3)
  • Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
  • Neurodevelopmental disorder with microcephaly + structural brain anomalies (DYNC1I2)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
  • Neurodevelopmental disorder with microcephaly, ataxia + seizures (SARS1)
  • Neurodevelopmental disorder with microcephaly, cortical malformations + spasticity (TMX2)
  • Neurodevelopmental disorder with microcephaly, epilepsy + hypomyelination (MTHFS)
  • Neurodevelopmental disorder with microcephaly, epilepsy, brain atrophy (TRAPPC6B)
  • Neurodevelopmental disorder with microcephaly, hypotonia + variable brain anomalies (PRUNE1)
  • Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, gait abn., AD (NARS1)
  • Neurodevelopmental disorder with microcephaly, impaired language, gait abnormalities, AR (NARS1)
  • Neurodevelopmental disorder with microcephaly, seizures + cortical atrophy (VARS1)
  • Neurodevelopmental disorder with motor + speech delay + behavioral abnormalities (TMEM222)
  • Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
  • Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity + brain anomalies (PLAA)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, brain abnormalities (MFSD2A)
  • Neurodevelopmental disorder with progressive spasticity + brain white matter abnormalities (HPDL)
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
  • Neurodevelopmental disorder with seizures + brain abnormalities (CLCN3)
  • Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
  • Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Neurodevelopmental disorder with spasticity + poor growth (UFC1)
  • Neurodevelopmental disorder with spasticity, cataracts + cerebellar hypoplasia (MED27)
  • Neurodevelopmental disorder with speech impairment + dysmorphic facies (SETD1A)
  • Neurodevelopmental disorder with structural brain anomalies + dysmorphic facies (RAC3)
  • Neurodevelopmental disorder with structural brain anomalies with/-out seizures, spasticity (PTPN23)
  • Neurodevelopmental disorder with/-out autistic features +/- structural brain abnormalities (NOVA2)
  • Neurodevelopmental disorder with/-out early-onset generalized epilepsy (NBEA)
  • Neurodevelopmental disorder with/-out seizures + gait abnormalities (GRIA4)
  • Neurodevelopmental disorder with/-out variable movement or behavioral abnormalities (KCNN2)
  • Neurodevelopmental disorder, absent language + variable seizures (WASF1)
  • Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
  • Neurodevelopmental disorder, brain anomalies, seizures + scoliosis (PIGU)
  • Neurodevelopmental disorder, cerebral atrophy + variable facial dysmorphism (TTC5)
  • Neurodevelopmental disorder, dysmorphic facies, sleep disturbance + brain abnormalities (KAT5)
  • Neurodevelopmental disorder, epilepsy, cataracts, feeding difficulties + delayed brain myel. (NACC1)
  • Neurodevelopmental disorder, epilepsy, spasticity + brain atrophy (TRAPPC4)
  • Neurodevelopmental disorder, hypotonia, autistic features with/-out hyperkinetic movements (VAMP2)
  • Neurodevelopmental disorder, hypotonia, impaired expressive language with/-out seizures (DEAF1)
  • Neurodevelopmental disorder, hypotonia, neonatal respiratory insuff., thermodysreg. (RALGAPA1)
  • Neurodevelopmental disorder, hypotonia, seizures + absent language (HECW2)
  • Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
  • Neurodevelopmental disorder, impaired speech, hyperkinetic movements (ZNF142)
  • Neurodevelopmental disorder, language delay +- structural brain abnormalities (PPP2CA)
  • Neurodevelopmental disorder, language delay with/-out structural brain abnormalities (PPP2CA)
  • Neurodevelopmental disorder, microceph., impaired language, epilepsy, gait abnormalities, AD (NARS)
  • Neurodevelopmental disorder, microcephaly, epilepsy + brain atrophy (TRAPPC6B)
  • Neurodevelopmental disorder, microcephaly, impaired language, gait abnormalities, AR (NARS)
  • Neurodevelopmental disorder, microcephaly, seizures + cortical atrophy (VARS1)
  • Neurodevelopmental disorder, mitoch., abn. movements, lactic acidosis, with/-out seizures (WARS2)
  • Neurodevelopmental disorder, movement abnormalities, abnormal gait, autistic features (ZSWIM6)
  • Neurodevelopmental disorder, progressive microcephaly, spasticity + brain anomalies (PLAA)
  • Neurodevelopmental disorder, progressive spasticity + brain white matter abnormalities (HPDL)
  • Neurodevelopmental disorder, regression, abnormal movements, speechless, seizures (IRF2BPL)
  • Neurodevelopmental disorder, seizures, speech + walking impairment (DHPS)
  • Neurodevelopmental disorder, severe motor impairment + absent language (DHX30)
  • Neurodevelopmental disorder, spastic quadriplegia, brain abnormalities with/-out seizures (WDR45B)
  • Neurodevelopmental, jaw, eye + digital syndrome (FBXW11)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Neuroocular syndrome (PRR12)
  • Neurooculocardiogenitourinary syndrome (WDR37)
  • Nicolaides-Baraitser syndrome (SMARCA2)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 11 (MRAS)
  • Noonan syndrome 12 (RRAS2)
  • Noonan syndrome 13 (MAPK1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome [panelapp] (A2ML1)
  • Noonan syndrome [panelapp] (RASA2)
  • Noonan syndrome-like disorder with loose anagen hair 1 (SHOC2)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like phenotype (A2ML1)
  • O'Donnell-Luria-Rodan syndrome (KMT2E)
  • Obesity, hyperphagia + developmental delay (NTRK2)
  • Oculogastrointestinal neurodevelopmental syndrome (CAPN15)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Opitz GBBB syndrome, type II (SPECC1L)
  • Opitz-Kaveggia syndrome (MED12)
  • Optic atrophy 10 with/-out ataxia, mental retardation + seizures (RTN4IP1)
  • Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
  • Ornithine transcarbamylase deficiency (OTC)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Orotic aciduria (UMPS)
  • Osteogenesis imperfecta, type XV (WNT1)
  • Ovarioleukodystrophy (EIF2B5)
  • PCWH syndrome (SOX10)
  • Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)
  • Pallister-Hall syndrome (GLI3)
  • Pallister-Hall-like syndrome (SMO)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Parkinsonism with spasticity, XL (ATP6AP2)
  • Parkinsonism-dystonia, infantile, 1 (SLC6A3)
  • Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
  • Partington syndrome (ARX)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Periventricular nodular heterotopia 8 (ARF1)
  • Periventricular nodular heterotopia 9 (MAP1B)
  • Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Peters-plus syndrome (B3GLCT)
  • Pettigrew syndrome (AP1S2)
  • Phelan-McDermid syndrome (SHANK3)
  • Phosphoglycerate kinase 1 deficiency (PGK1)
  • Pierpont syndrome (TBL1XR1)
  • Pitt-Hopkins syndrome (TCF4)
  • Pitt-Hopkins-like syndrome 2 (NRXN1)
  • Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
  • Polydactyly, postaxial, types A1, B + preaxial, type IV (GLI3)
  • Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Polyposis, juvenile intestinal (SMAD4)
  • Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
  • Pontocerebellar hypoplasia [panelapp] (MINPP1)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia, type 10 (CLP1)
  • Pontocerebellar hypoplasia, type 11 (TBC1D23)
  • Pontocerebellar hypoplasia, type 13 (VPS51)
  • Pontocerebellar hypoplasia, type 14 (PPIL1)
  • Pontocerebellar hypoplasia, type 1B (EXOC3)
  • Pontocerebellar hypoplasia, type 1C (EXOSC8)
  • Pontocerebellar hypoplasia, type 2E (VPS53)
  • Pontocerebellar hypoplasia, type 2F (TSEN15)
  • Pontocerebellar hypoplasia, type 7 (TOE1)
  • Pontocerebellar hypoplasia, type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
  • Primrose syndrome (ZBTB20)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Pseudohypoparathyroidism Ia + Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Pyruvate dehydrogenase E1-beta deficiency (PDHB)
  • Radio-Tartaglia syndrome (SPEN)
  • Rahman syndrome (HIST1H1E)
  • Rajab interstitial lung disease with brain calcifications 2 (FARSA)
  • Rett syndrome, congenital variant (FOXG1)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Ritscher-Schinzel syndrome 4 (DPYSL5)
  • Robinow syndrome, AR (ROR2)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • SBBYSS syndrome (KAT6B)
  • SESAME syndrome (KCNJ10)
  • Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
  • Saul-Wilson syndrome (COG4)
  • Schaaf-Yang syndrome (MAGEL2)
  • Schinzel-Giedion midface retraction syndrome (SETBP1)
  • Schizencephaly (EMX2)
  • Schizencephaly (SHH)
  • Schizencephaly (SIX3)
  • Schuurs-Hoeijmakers syndrome (PACS1)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CEP152)
  • Segawa syndrome, recessive (TH)
  • Seizures, abnormality of the corpus callosum [panelapp] (VPS50)
  • Seizures, anorm. muscle tone, global developmental delay ID, strabismus [panelapp] (UFSP2)
  • Seizures, benign neonatal, 2 (KCNQ3)
  • Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Seizures, early-onset, with neurodegeneration + brain calcification (NRROS)
  • Seizures, scoliosis + macrocephaly syndrome (EXT2)
  • Septooptic dysplasia (HESX1)
  • Severe nonsyndr. early epilepsy, global dev. delay, ID, autism, abn. face/limbs [panelapp] (CSNK1G1)
  • Shaheen syndrome (COG6)
  • Shashi-Pena syndrome (ASXL2)
  • Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
  • Short stature, developmental delay + congenital heart defects (TKT)
  • Short stature, macrocephaly, intellectual disability + autism spectrum disorder [panelapp] (RHEB)
  • Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
  • Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
  • Shprintzen-Goldberg syndrome (SKI)
  • Sideroblastic anemia, B-cell immunodeficiency, periodic fevers, developm. delay (TRNT1)
  • Sifrim-Hitz-Weiss syndrome (CHD4)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Single median maxillary central incisor (SHH)
  • Singleton-Merten syndrome 1 (IFIH1)
  • Sjogren-Larsson syndrome (ALH3A2)
  • Skraban-Deardorff syndrome (WDR26)
  • Smith-Kingsmore syndrome (MTOR)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Smith-Magenis syndrome (RAI1)
  • Snijders Blok-Campeau syndrome (CHD3)
  • Snijders Blok-Fisher syndrome (POU3F3)
  • Sotos syndrome 1 (NSD1)
  • Sotos syndrome 2 (NFIX)
  • Sotos syndrome 3 (APC2)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 13, AD (HSPD1)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 26, AR (B4GALNT1)
  • Spastic paraplegia 30, AD + AR (KIF1A)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 3A, AD (ATL1)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 47, AR (AP4B1)
  • Spastic paraplegia 50, AR (AP4M1)
  • Spastic paraplegia 51, AR (AP4E1)
  • Spastic paraplegia 52, AR (AP4S1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 74, AR (IBA57)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spastic paraplegia 82, AR (PCYT2)
  • Spastic paraplegia 83, AR (HPDL)
  • Spastic paraplegia 84, AR (PI4KA)
  • Spastic paraplegia 86, AR (ABHD16A)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia, intellectual disability, nystagmus + obesity (KIDINS220)
  • Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
  • Speech-language disorder-1 (FOXP2)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 15 (ITPR1)
  • Spinocerebellar ataxia 2 (ATXN2)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 40 (CCDC88C)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 47 (PUM1)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Spinocerebellar ataxia 7 (ATXN7)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 30 (PIRM1)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Stankiewicz-Isidor syndrome (PSMD12)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
  • Suleiman-El-Hattab syndrome (TASP1)
  • Sweeney-Cox syndrome (TWIST1)
  • Symmetric circumferential skin creases, congenital, 2 (MAPRE2)
  • Syndromic infantile encephalopathy; hypopituitarism [panelapp] (HID1)
  • Syndromic intellectual disability [panelapp] (SIN3B)
  • Syndromic neurodevelopmental disorder [panelapp] (BCAS3)
  • Takenouchi-Kosaki syndrome (CDC42)
  • Tatton-Brown-Rahman syndrome (DNMT3A)
  • Teebi hypertelorism syndrome (SPECC1L)
  • Temple-Baraitser syndrome (KCNH1)
  • Tenorio syndrome (RNF125)
  • Timothy syndrome (CACNA1C)
  • Tolchin-Le Caignec syndrome (SOX6)
  • Transcobalamin II deficiency (TCN2)
  • Trichothiodystrophy 5, nonphotosensitive (RNF113A)
  • Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
  • Trichothiodystrophy 8, nonphotosensitive (AARS1)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Turnpenny-Fry syndrome (PCGF2)
  • Tyrosinemia, type II (TAT)
  • Tyrosinemia, type III (HPD)
  • Usmani-Riazuddin syndrome, AD (AP1G1)
  • Usmani-Riazuddin syndrome, AR (AP1G1)
  • Van Esch-O'Driscoll syndrome (POLA1)
  • Van Maldergem syndrome 2 (FAT4)
  • Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
  • Ventriculomegaly + arthrogryposis (KIDINS220)
  • Ventriculomegaly with cystic kidney disease (CRB2)
  • Verheij syndrome (PUF60)
  • Ververi-Brady syndrome (QRICH1)
  • Vissers-Bodmer syndrome (CNOT1)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Watson syndrome (NF1)
  • Weaver syndrome (EZH2)
  • Weiss-Kruszka syndrome (ZNF462)
  • White-Kernohan syndrome (DDB1)
  • White-Sutton syndrome (POGZ)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • Wiedemann-Steiner syndrome (KMT2A)
  • Witteveen-Kolk syndrome (SIN3A)
  • Xia-Gibbs syndrome (AHDC1)
  • ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome (SON)
  • Zimmermann-Laband syndrome 1 (KCNH1)
  • Zimmermann-Laband syndrome 2 (ATP6V1B2)
  • Zimmermann-Laband syndrome 3 (KCNN3)
  • Zunich neuroectodermal syndrome (PIGL)
Heredity, heredity patterns etc.
  • Ass
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.8

Bioinformatics and clinical interpretation

No text defined