Klinische FragestellungMentale Retardierung, autosomal dominant

NGS +

Mentale Retardierung (MR) ist eine sehr heterogene Entität, die als erhebliche Beeinträchtigung der kognitiven und adaptiven Funktionen mit einem Beginn in der frühen Kindheit (IQ <70) definiert ist. MR tritt häufig gemeinsam mit anderen psychischen Erkrankungen wie Depression, Aufmerksamkeitsdefizit-/ Hyperaktivitätsstörung und Autismus-Spektrum-Störung auf. Daher kann MR in nicht-syndromale und syndromale Formen unterteilt werden, letztere mit zusätzlichen klinischen Zeichen wie Organfehlbildungen, abnormen Körpermaßen und verschiedenen Anfallsformen usw. klassifiziert werden. Sinnvoll kann der Einsatz von Trio-Exom-Analysen bei Individuen mit sporadischer MR sein, da de novo Mutationen bei MR zwischen 20-60% variieren. In vielen Fällen bleibt die Ursache aufgrund der klinischen und genetischen Heterogenität unbekannt.

Referenz: doi: 10.1007/s11825-018-0206-2

• Alias: Intellectual disability, AD
• Alias: Psycho-motor retardation, AD
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Basal cell nevus syndrome 2 (SUFU)
• Allelic: Blood group, Diego (SLC4A1)
• Allelic: Blood group, Froese (SLC4A1)
• Allelic: Blood group, Swann (SLC4A1)
• Allelic: Blood group, Waldner (SLC4A1)
• Allelic: Blood group, Wright (SLC4A1)
• Allelic: Brachydactyly, type B1 (ROR2)
• Allelic: Brugada syndrome 3 (CACNA1C)
• Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
• Allelic: Cataract 21, multiple types (MAF)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• 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)
• Allelic: Colorectal cancer, somatic (CTNNB1)
• Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Allelic: Cowden syndrome 5 (PIK3CA)
• Allelic: Craniosynostosis 1(TWIST1)
• Allelic: Craniosynostosis 5, susceptibility to (ALX4)
• Allelic: Cutis laxa, AD 3 (ALDH18A1)
• Allelic: Cutis laxa, AR, type IID (ATP6V1A)
• Allelic: Cutis laxa, AR, type IIIA (ALDH18A1) 3
• Allelic: Deafness, AD 20 + 26 (ACTG1)
• Allelic: Deafness, AD 84 (ATP11A)
• 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: Dystonia 4, torsion, AD (TUBB4A)
• Allelic: Dystonia, juvenile-onset (ACTB)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
• Allelic: Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 1 (SLC12A5)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
• Allelic: Facial clefting, oblique, 1 (SPECC1L)
• Allelic: Failure of tooth eruption, primary (PTH1R)
• Allelic: Febrile seizures, familial, 8 (GABRG2)
• Allelic: Fibromatosis, gingival, 1 (SOS1)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Gracile bone dysplasia (FAM111A)
• Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
• Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
• Allelic: Hepatocellular carcinoma, somatic (CTNNB1)
• Allelic: Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Allelic: Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Hypomagnesemia 6, renal (CNNM2)
• Allelic: Immunodeficiency 49 (BCL11B)
• Allelic: Intellectual developmental disorder, AR 52 (LMAN2L)
• Allelic: Intellectual developmental disorder, AR 76 (GRIA1)
• Allelic: Juvenile myelomonocytic leukemia (CBL)
• Allelic: Keratitis (PAX6)
• Allelic: Kosaki overgrowth syndrome (PDGFRB)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
• Allelic: Long QT syndrome 8 (CACNA1C)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Lymphatic malformation 3 (GJC2)
• Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Medulloblastoma (SUFU)
• Allelic: Medulloblastoma, somatic (CTNNB1)
• Allelic: Meningioma (PTEN)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Meningioma, familial, susceptibility to (SUFU)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Microphthalmia with coloboma 5 (SHH)
• Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
• Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
• Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
• Allelic: Myokymia (KCNQ2)
• Allelic: Neurodevelopmental disorder +- hyperkinetic movements + seizures, AR (GRIN1)
• 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: Neutropenia, severe congenital, 8, AR (SRP54)
• Allelic: Nicotine dependence, protection against + susceptibility to (GABBR2)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Osseous heteroplasia, progressive (GNAS)
• Allelic: Ovarian cancer, somatic (CTNNB1)
• Allelic: Pilomatricoma, somatic (CTNNB1)
• Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
• Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Allelic: Pontocerebellar hypoplasia, hypotonia, respiratory insuff., neonatal lethal (ATAD3A)
• Allelic: Pseudohypoparathyroidism Ib (GNAS)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Retinitis pigmentosa 59 (DHDDS)
• Allelic: Rhabdoid tumor predisposition syndrome (SMARCA4)
• Allelic: Robinow-Sorauf syndrome (TWIST1)
• 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: Sinoatrial node dysfunction + deafness (CACNA1D)
• Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
• Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Allelic: Thyroid hormone resistance, AR (THRB)
• Allelic: Transposition of the great arteries, dextro-looped 1 (MED13L)
• Allelic: Tumor predisposition syndrome 1 (BAP1)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: Uveal melanoma, susceptibility to, 2 (BAP1)
• Allelic: Waardenburg syndrome, type 4C (SOX10)
• Allelic: Watson syndrome (NF1)
• llelic: Pseudohypoparathyroidism Ib (GNAS)
• 3p- syndrome, includes intellectual disability [panelapp] (SRGAP3)
• AR mental retardation, autism spectrum disorder [MONDO:0005258, panelapp] (KDM5A)
• Ablepharon-macrostomia syndrome (TWIST2)
• Acampomelic campomelic dysplasia (SOX9)
• Acrodysostosis 2, with/-out hormone resistance (PDE4D)
• Acromelic frontonasal dysostosis (ZSWIM6)
• Adams-Oliver syndrome 3 (RBPJ)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alcohol dependence, susceptibility to (GABRA2)
• Alexander disease (GFAP)
• Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
• Angelman syndrome (UBE3A)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Aniridia (PAX6)
• Aplasia/hypoplasia of the corpus callosum [HP:0007370, panelapp] (DPYSL2)
• Arboleda-Tham syndrome (KAT6A)
• Arthrogryposis, cleft palate, craniosynostosis, impaired intellectual development (PPP3CA)
• Atrial septal defect 9 (GATA6)
• Atrioventricular septal defect 5 (GATA6)
• Au-Kline syndrome (HNRNPK)
• Auditory neuropathy, AD 2 (ATP11A)
• Autism (PHF14)
• Autism [panelapp] (CHRM1)
• Autism susceptibility 17 (SHANK2)
• Autism, susceptibility to, 18 (CHD8)
• Autism/ID [panelapp] (CAPRIN1)
• Ayme-Gripp syndrome (MAF)
• Bachmann-Bupp syndrome (ODC1)
• Bainbridge-Ropers syndrome (ASXL3)
• Baker-Gordon syndrome (SYT1)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• Barber-Say syndrome (TWIST2)
• Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Beckwith-Wiedemann syndrome (CDKN1C)
• Birk-Barel syndrome (KCNK9)
• Bohring-Opitz syndrome (ASXL1)
• Bosch-Boonstra-Schaaf optic atrophy syndrome (NR2F1)
• Brachycephaly, trichomegaly, developmental delay (RPS23)
• Brachydactyly, type E2 (PTHLH)
• Brachydactyly-mental retardation syndrome (HDAC4?)
• Brain malformations with/-out urinary tract defects (NFIA)
• Brain small vessel disease 2 (COL4A2)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• C syndrome, Opitz trigonocephaly syndrome (CD96)
• CHARGE syndrome (CHD7)
• CHOPS syndrome (AFF4)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cardiac, facial + digital anomalies with developmental delay (TRAF7)
• Cardioacrofacial dysplasia 2 (PRKACB)
• Cardiofaciocutaneous syndrome (BRAF)
• Cardiofaciocutaneous syndrome 2 (KRAS)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
• Cerebral palsy [panelapp] (AGAP1)
• Cerebrocostomandibular syndrome (SNRPB)
• Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
• Chilton-Okur-Chung neurodevelopmental syndrome (CDC42BPB)
• Chondrodysplasia, Blomstrand type (PTH1R)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Chromosome 5q14.3 deletion syndrome (MEF2C)
• Chung-Jansen syndrome (PHIP)
• Cleft palate, cardiac defects + mental retardation (MEIS2)
• Cleft palate, psychomotor retardation + distinctive facial features (KDM1A)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 10 (SOX4)
• Coffin-Siris syndrome 11 (SMARCD1)
• 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)
• 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 glycosylation, type 1bb (DHDDS)
• Congenital disorder of glycosylation, type IIi (COG5)
• Congenital heart defects + ectodermal dysplasia (PRKD1)
• Congenital heart defects, dysmorphic facial features, intellectual developmental disorder (CDK13)
• Congenital heart defects, nonsyndromic, 2 (TAB2)
• Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
• Congenital myopathy with excess of muscle spindles (HRAS)
• Conotruncal anomaly face syndrome (TBX1)
• Cornelia de Lange syndrome 1 (NIPBL)
• 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 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)
• Costello syndrome (HRAS)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 6 (AKT1)
• Craniometaphyseal dysplasia (ANKH)
• Cryohydrocytosis (SLC4A1)
• Culler-Jones syndrome (GLI2)
• D-2-hydroxyglutaric aciduria 2 (IDH2)
• Deafness, AD 2B (GJB3)
• Deafness, AD 75 (TRRAP)
• Deafness, AD, with peripheral neuropathy (GJB3)
• Deafness, AR (GJB3)
• Deafness, digenic, GJB2/GJB3 (GJB3)
• Delayed speech, autistism, fail to thrive, feeding difficult, abn. cardiovascular [panelapp] (CTR9)
• Dentatorubral-pallidoluysian atrophy (ATN1)
• Desanto-Shinawi syndrome (WAC)
• Developmental + epileptic encephalopathy 11 (SCN2A)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 14 (KCNT1)
• 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 31 (DNM1)
• Developmental + epileptic encephalopathy 32 (KCNA2)
• Developmental + epileptic encephalopathy 33 (EEF1A2)
• Developmental + epileptic encephalopathy 4 (STXBP1)
• Developmental + epileptic encephalopathy 41 (SLC1A2)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 43 (GABRB3)
• Developmental + epileptic encephalopathy 46 (GRIN2D)
• Developmental + epileptic encephalopathy 47 (FGF12)
• Developmental + epileptic encephalopathy 54 (HNRNPU)
• Developmental + epileptic encephalopathy 56 (YWHAG)
• Developmental + epileptic encephalopathy 57 (KCNT2)
• Developmental + epileptic encephalopathy 58 (NTRK2)
• Developmental + epileptic encephalopathy 59 (GABBR2)
• 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 74 (GABRG2)
• Developmental + epileptic encephalopathy 76 (ACTL6B)
• Developmental + epileptic encephalopathy 78 (GABRA2)
• Developmental + epileptic encephalopathy 91 (PPP3CA)
• Developmental + epileptic encephalopathy 92 (GABRB2)
• Developmental + epileptic encephalopathy 93 (ATP6V1A)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Developmental and epileptic encephalopathy 34 (SLC12A5)
• Developmental and epileptic encephalopathy [MONDO:0100062, panelapp] (SLC32A1)
• Developmental delay + seizures with/-out movement abnormalities (DHDDS)
• Developmental delay with variable intellectual impairment + behavioral abnormalities (TCF20)
• Developmental delay with/-out dysmorphic facies + autism (TRRAP)
• Developmental disorder [panelapp] (ARHGAP35)
• Developmental disorder [panelapp] (DDX23)
• Developmental disorder [panelapp] (GIGYF1)
• Developmental disorder with intellectual disability, epilepsy, autism [panelapp] (KLHL20)
• Developmental disorders [panelapp] (HNRNPD)
• Developmental disorders [panelapp] (MMGT1)
• Developmental disorders [panelapp] (PSMC5)
• Developmental disorders [panelapp] (RAB14)
• Developmental disorders [panelapp] (U2AF2)
• Developmental disorders [panelapp] (UPF1)
• Developmental disorders, autism [panelapp] (MSL2)
• DiGeorge syndrome (TBX1)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Dias-Logan syndrome (BCL11A)
• Distal renal tubular acidosis 1 (SLC4A1)
• Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
• Dravet syndrome (SCN1A)
• Dworschak-Punetha neurodevelopmental syndrome (PLXNA1)
• Dystonia 28, childhood-onset (KMT2B)
• Dystonia 9 (SLC2A1)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Eiken syndrome (PTH1R)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Epilepsy nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, Intellectual Disability, microcephaly [panelapp] (ATP6V0C)
• 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, progressive myoclonic 7 (KCNC1)
• Epilepsy, progressive myoclonic, 11 (SEMA6B)
• Epilepsy, progressive myoclonic, 9 (LMNB2)
• Epileptic encephalopathy Lennox-Gastaut type [panelapp] (MAPK10)
• Episodic ataxia, type 2 (CACNA1A)
• Episodic ataxia, type 5 (CACNB4)
• Erythrokeratodermia variabilis et progressiva 1 (GJB3)
• Facial dysmorphism, hypertrichosis, epilepsy, ID/dev. delay, gingival overgrowth s. (KCNK4)
• Fanconi anemia, complementation group R (RAD51)
• Febrile seizures, familial, 3A (SCN1A)
• Feingold syndrome 1 (MYCN)
• Fibrodysplasia ossificans progressiva (ACVR1)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Focal cortical dysplasia, type II, somatic (TSC2)
• Focal facial dermal dysplasia 3, Setleis type (TWIST2)
• Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
• Frontonasal dysplasia 2 (ALX4)
• 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)
• 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)
• Glass syndrome (SATB2)
• Global dev. delay, ID, seizures, white matter atrophy, abn. CC + movement [panelapp] (DROSHA)
• Global developmental delay [panelapp] (ARF3)
• Global developmental delay with/-out impaired intellectual development (CUX1)
• Global developmental delay, ID [MONDO:0001071, panelapp] (EPHA7)
• Global developmental delay, ID, autism; ADHD, aggressive, abnorm movement [panelapp] (PRKAR1B)
• Global developmental delay, absent/hypoplastic corpus callosum, dysmorphic facies (ZNF148)
• Global developmental delay, autism (CSDE1)
• Global developmental delay, intellectual disab., autism, behavioral abnorm. [panelapp] (BRSK2)
• Gnathodiaphyseal dysplasia (ANO5)
• Harel-Yoon syndrome (ATAD3A)
• Hawkinsinuria (HPD)
• Helsmoortel-van der Aa syndrome (ADNP)
• Heyn-Sproul-Jackson syndrome (DNMT3A)
• Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
• Holoprosencephaly 11 (CDON)
• Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
• Holoprosencephaly 2 (SIX3)
• Holoprosencephaly 3 (SHH)
• Holoprosencephaly 4 (TGIF1)
• Holoprosencephaly 5 (ZIC2)
• Holoprosencephaly 7 (PTCH1)
• Holoprosencephaly 9 (GLI2)
• Hyperparathyroidism, neonatalv (CASR)
• Hypertrichotic osteochondrodysplasia (ABCC9)
• Hypocalcemia, AD (CASR)
• Hypocalcemia, autosomal dominant, with Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Hypocalciuric hypercalcemia, type III (AP251)
• Hypomagnesemia, seizures + mental retardation (CNNM2)
• Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
• 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, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
• IMAGE syndrome (CDKN1C)
• Intellectual developmental disorder 60 with seizures (AP2M1)
• Intellectual developmental disorder 62 (DLG4)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• 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 impaired language + dysmorphic facies (DDX6)
• Intellectual developmental disorder with macrocephaly, seizures + speech delay (PAK1)
• Intellectual developmental disorder with ocular anomalies, distinct face (MTSS2)
• Intellectual developmental disorder with seizures + language delay (SETD1B)
• Intellectual developmental disorder with severe speech + ambulation defects (ACTL6B)
• Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
• Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
• Intellectual developmental disorder, AD 11 (EPB41L1)
• Intellectual developmental disorder, AD 2 (DOCK8)
• Intellectual developmental disorder, AD 26 (AUTS2)
• Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
• Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
• Intellectual developmental disorder, AD 59 (CAMK2G)
• Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
• Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
• Intellectual developmental disorder, AD 64 (ZNF292)
• Intellectual developmental disorder, AD 67 (GRIA1)
• Intellectual developmental disorder, AD 68 (KMT2B)
• Intellectual developmental disorder, AD 69 (LMAN2L)
• Intellectual developmental disorder, AD, FRA12A type (DIP2B)
• Intellectual developmental disorder, behavioral abnorm., craniofacial dysmorph. +- seizures (PHF21)
• Intellectual developmental disorder, dysmorphic facies, speech delay, T-cell abnormalities (BCL11B)
• Intellectual developmental disorder, nasal speech, dysmorphic facies, variable skel. anom. (CNOT2)
• Intellectual disability [MONDO:0001071, panelapp] (CTR9)
• Intellectual disability [MONDO:0001071, panelapp] (DPYSL2)
• Intellectual disability [MONDO:0001071, panelapp] (KDM2B)
• Intellectual disability [MONDO:0001071, panelapp] (KDM5A)
• Intellectual disability [MONDO:0001071, panelapp] (TAF4)
• Intellectual disability [MONDO:0001071, panelapp] seizures (JAKMIP1)
• Intellectual disability [MONDO:0001071] (SHANK1)
• Intellectual disability [panelapp, MONDO:0001071] (ARF3)
• Intellectual disability [panelapp] (ACTL6A)
• Intellectual disability [panelapp] (CAPZA2)
• Intellectual disability, autism [panelapp] (JMJD1C)
• Intellectual disability, developmental delay (TAOK1)
• Intellectual disability, epilepsy, microcephaly (PARP6)
• Intellectual disability, macrocephaly [panelapp] (ATXN2L)
• Intellectual disability, microcephaly [panelapp] (BRD4)
• Intellectual disability, seizures, postnatal microcephaly, short digit [panelapp] (HNRNPR)
• Intellectual disability, spastic diplegia, dystonia, brain abnormalities [panelapp] (DHX32)
• Jansen de Vries syndrome (PPM1D)
• Joubert syndrome 32 (SUFU)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• KBG syndrome (ANKRD11)
• Kabuki syndrome 1 (KMT2D)
• Kenny-Caffey syndrome, type 2 (FAM111A)
• Keppen-Lubinsky syndrome (KCNJ6)
• Kleefstra syndrome 1 (EHMT1)
• Kleefstra syndrome 2 (KMT2C)
• Koolen-De Vries syndrome (KANSL1)
• Kury-Isidor syndrome (BAP1)
• LEOPARD syndrome 1 (PTPN11)
• LEOPARD syndrome 2 (RAF1)
• LEOPARD syndrome 3 (BRAF)
• Lamb-Shaffer syndrome (SOX5)
• Lenz-Majewski hyperostotic dwarfism (PTDSS1)
• Leukodystrophy and acquired microcephaly +/- dystonia (PLEKHG2)
• Leukodystrophy, hypomyelinating, 2 (GJC2)
• Leukodystrophy, hypomyelinating, 24 (ATP11A)
• Leukodystrophy, hypomyelinating, 4 (HSPD1)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Lhermitte-Duclos syndrome (PTEN)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Loeys-Dietz syndrome 3 (SMAD3)
• Luscan-Lumish syndrome (SETD2)
• MIRAGE syndrome (SAMD9)
• Macrocephaly [HP:0000256, panelapp] (CTR9)
• Macrocephaly, acquired, with impaired intellectual development (NFIB)
• Macrocephaly/autism syndrome (PTEN)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Marshall-Smith syndrome (NFIX)
• 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)
• 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 6 (GMNN)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Mental retardation + distinctive facial features with/-out cardiac defects (MED13L)
• 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 63 (CAMK2A)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Microcephaly 27, primary, AD (LMNB2)
• Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
• Microphthalmia, syndromic 12 (RARB)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Microphthalmia/coloboma + skeletal dysplasia syndrome (MAB21L2)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Mirror movements 2 (RAD51)
• Miyoshi muscular dystrophy 3 (ANO5)
• Morphological abnormality of CNS, microcephaly [panelapp, MONDO:0001149] (ARF3)
• Motor delay [HP:0001270, panelapp] (CTR9)
• Mowat-Wilson syndrome (ZEB2)
• Moyamoya disease 5 (ACTA2)
• Muscular dystrophy, limb-girdle, AR 12 (ANO5)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 10 (TMEM5)
• Myasthenic syndrome, congenital, 18 (SNAP25)
• Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Myhre syndrome (SMAD4)
• Myoclonic-atonic epilepsy (SLC6A1)
• Myoclonus, familial, 2 (SCN8A)
• Myoclonus, intractable, neonatal (KIF5A)
• Myotonic dystrophy 1 (DMPK)
• NESCAV syndrome (KIF1A)
• Neurodegeneration, childhood-onset, with brain atrophy (UBTF)
• Neurodevelopmental delay with hyperphagic obesity (POU3F2)
• Neurodevelopmental delay, ID [MONDO:0001071] (CHRM1)
• Neurodevelopmental delay, growth delay, microcephaly, muscular hypotonia (NSD2)
• 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 [MONDO:0700092, panelapp] (KDM2B)
• Neurodevelopmental disorder [MONDO:0700092, panelapp] (SHANK1)
• Neurodevelopmental disorder [panelapp] (HIRA1)
• Neurodevelopmental disorder [panelapp] (LHX2)
• Neurodevelopmental disorder with absent language + variable seizures (WASF1)
• Neurodevelopmental disorder with dysmorphic facies + distal limb anomalies (BPTF)
• Neurodevelopmental disorder with dysmorphic facies + distal skeletal anomalies (ZMIZ1)
• Neurodevelopmental disorder with eye movement abnormalities + ataxia (FRMD5)
• Neurodevelopmental disorder with hypotonia, autistic features +/- hyperkinetic moves (VAMP2)
• Neurodevelopmental disorder with hypotonia, impaired expressive language, +/- seizures (DEAF1)
• Neurodevelopmental disorder with hypotonia, seizures + absent language (HECW2)
• Neurodevelopmental disorder with hypotonia, variable intellectual, behavioral abnormalities (POLR2A)
• Neurodevelopmental disorder with involuntary movements (GNAO1)
• Neurodevelopmental disorder with language impairment + behavioral abnormalities (GRIA2)
• Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
• Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
• Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
• Neurodevelopmental disorder with structural brain anomalies + dysmorphic facies (RAC3)
• Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
• Neurodevelopmental disorder, epilepsy, cataracts, feeding difficulties + delayed brain myel. (NACC1)
• Neurodevelopmental disorder, hypotonia, stereotypic hand movements, impaired language (MEF2C)
• Neurodevelopmental disorder, language delay +- structural brain abnormalities (PPP2CA)
• Neurodevelopmental disorder, movement abnormalities, abnormal gait, autistic features (ZSWIM6)
• Neurodevelopmental disorder, multiple congenital abnormalities (FOXP4)
• Neurodevelopmental, jaw, eye + digital syndrome (FBXW11)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Neuroocular syndrome (PRR12)
• Neurooculocardiogenitourinary syndrome (WDR37)
• Nicolaides-Baraitser syndrome (SMARCA2)
• Nizon-Isidor syndrome (MED12L)
• Nonaka myopathy (GNE)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome 10 (LZTR1)
• 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-like disorder with loose anagen hair 2 (PPP1CB)
• Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
• Noonan syndrome-like with loose anagen hair 1 (SHOC2)
• O'Donnell-Luria-Rodan syndrome (KMT2E)
• Obesity, hyperphagia + developmental delay (NTRK2)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• Opitz GBBB syndrome, type II (SPECC1L)
• Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
• Ovalocytosis, SA type (SLC4A1)
• PCWH syndrome (SOX10)
• Pallister-Hall syndrome (GLI3)
• Pancreatic agenesis and congenital heart defects (GATA6)
• Parietal foramina 2 (ALX4)
• Periventricular nodular heterotopia 6 (ERMARD)
• Persistent truncus arteriosus (GATA6)
• Pierpont syndrome (TBL1XR1)
• Pilarowski-Bjornsson syndrome (CHD1)
• Pitt-Hopkins syndrome (TCF4)
• Pitt-Hopkins-like syndrome 2 (NRXN1)
• Pituitary hormone deficiency, combined or isolated, 1 (POU1F1)
• Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
• Polydactyly, postaxial, types A1, B + preaxial, type IV (GLI3)
• Polyposis, juvenile intestinal (SMAD4)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
• Primrose syndrome (ZBTB20)
• Pseudohypoparathyroidism Ia + Ic (GNAS)
• Pseudopseudohypoparathyroidism (GNAS)
• Pulmonary hypertension, primary, 4 (KCNK3)
• Rahman syndrome (HIST1H1E)
• Renal cysts and diabetes syndrome (HNF1B)
• Rett syndrome, congenital variant (FOXG1)
• Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
• Robinow syndrome, AR (ROR2)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• SBBYSS syndrome (KAT6B)
• SIMHA [Short, ID, Microcephaly, Hypotonia, ocular Anomalies] syndrome (ZNF407)
• Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
• Schaaf-Yang syndrome (MAGEL2)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schizencephaly (EMX2)
• Schizencephaly (SHH)
• Schizencephaly (SIX3)
• Schuurs-Hoeijmakers syndrome (PACS1)
• Seckel syndrome 6 (CEP63)
• Seizures [panelapp] (ARF3)
• Seizures, benign neonatal, 2 (KCNQ3)
• Septooptic dysplasia (HESX1)
• Severe anaemia, lactic acidosis, developmental delay, white matter abnormal [panelapp] (TOMM70)
• Shashi-Pena syndrome (ASXL2)
• Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
• Shprintzen-Goldberg syndrome (SKI)
• Sialuria (GNE)
• Sifrim-Hitz-Weiss syndrome (CHD4)
• Silver spastic paraplegia syndrome (BSCL2)
• Single median maxillary central incisor (SHH)
• Singleton-Merten syndrome 1 (IFIH1)
• Skraban-Deardorff syndrome (WDR26)
• Smith-Kingsmore syndrome (MTOR)
• Smith-Magenis syndrome (RAI1)
• Snijders Blok-Campeau syndrome (CHD3)
• Snijders Blok-Fisher syndrome (POU3F3)
• Sotos syndrome 1 (NSD1)
• Sotos syndrome 2 (NFIX)
• Spastic paraplegia 10, AD (KIF5A)
• Spastic paraplegia 13, AD (HSPD1)
• Spastic paraplegia 30, AD + AR (KIF1A)
• Spastic paraplegia 3A, AD (ATL1)
• Spastic paraplegia 44, AR (GJC2)
• Spastic paraplegia 9A, AD (ALDH18A1)
• Spastic paraplegia, intellectual disability, nystagmus + obesity (KIDINS220)
• Speech-language disorder-1 (FOXP2)
• Speech/language/motor delay, ID, abnorm cardiovascular system + hearing [panelapp] (ZMYND8)
• Speech/language/motor delay, ID/autistism/seizures/microceph., abnorm head/neck [panelapp] (UBAP2L)
• Spherocytosis, type 4 (SLC4A1)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinocerebellar ataxia 13 (KCNC3)
• Spinocerebellar ataxia 21 (TMEM240)
• Spinocerebellar ataxia 27 (FGFR2)
• Spinocerebellar ataxia 27A (FGF14)
• Spinocerebellar ataxia 27B, late-onset (FGF14)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia 6 (CACNA1A)
• Stankiewicz-Isidor syndrome (PSMD12)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Subcortical laminar heterotopia (PAFAH1B1)
• Sweeney-Cox syndrome (TWIST1)
• Syndromic intellectual disability (RAP1B)
• Syndromic neutropenia with Shwachman-Diamond-like features [panelapp] (SRP54)
• Takenouchi-Kosaki syndrome (CDC42)
• Tatton-Brown-Rahman syndrome (DNMT3A)
• Teebi hypertelorism syndrome (SPECC1L)
• Temple-Baraitser syndrome (KCNH1)
• Tenorio syndrome (RNF125)
• Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 2 (HIST1H4J)
• Tessadori-van Haaften neurodevelopmental syndrome 3 (HIST1H4E)
• Tessadori-van Haaften neurodevelopmental syndrome 4 (HIST1H4I)
• Tetralogy of Fallot (GATA6)
• Tetralogy of Fallot (TBX1)
• Thyroid hormone resistance (THRB)
• Thyroid hormone resistance, selective pituitary (THRB)
• Timothy syndrome (CACNA1C)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Turnpenny-Fry syndrome (PCGF2)
• Type 2 diabetes mellitus (HNF1B)
• Tyrosinemia, type III (HPD)
• Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
• Velocardiofacial syndrome (TBX1)
• Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency s. (RYR2)
• Ventricular tachycardia, catecholaminergic polymorphic, 1 (RYR2)
• Ventricular tachycardia, idiopathic (GNAI2B)
• Ventriculomegaly + arthrogryposis (KIDINS220)
• Verbal function + developmental delay [panelapp] (CHL1)
• 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)
• Weaver syndrome (EZH2)
• Weiss-Kruszka syndrome (ZNF462)
• White-Sutton syndrome (POGZ)
• 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)