Klinische FragestellungKleinhirn-Hypoplasie, erweiterte Differentialdiagnose

NGS +

Gruppe heterogener Erkrankungen

• Alias: Zerebellare Hypoplasie
• Allelic: Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Allelic: COACH syndrome 2 (CC2D2A)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Colorectal cancer, somatic (DCC)
• Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, AD 3 (TINF2)
• Allelic: Ehlers-Danlos syndrome, vascular type (COL3A1)
• Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
• Allelic: Esophageal carcinoma, somatic (DCC)
• Allelic: FG syndrome 4 (CASK)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
• Allelic: Heterotaxy, visceral, 1, X (ZIC3)
• Allelic: Hypertriglyceridaemia [panelapp] (CELSR2)
• Allelic: Intellectual disability [MONDO:0001071] (HEATR5B)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Mental retardation, with/-out nystagmus (CASK)
• Allelic: Muscular dystrophy-dystroglycanopathy (cong. +/- mental retardation), type B, 5(FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
• 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, 14 (GMPPB)
• 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: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
• Allelic: Osteogenesis imperfecta, type XV (WNT1)
• Allelic: Pancreatic agenesis 2 (PTF1A)
• Allelic: Polymicrogyria, bilateral perisylvian (ADGRG1)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Retinitis pigmentosa 93 (CC2D2A)
• Allelic: Short-rib thoracic dysplasia 4 +/- polydactyly (TTC21B)
• Allelic: Thyroid carcinoma, follicular (MINPP1)
• Alkuraya-Kucinskas syndrome (BLTP1)
• Allelic: VACTERL association, XL (ZIC3)
• Bardet-Biedl syndrome 13 (MKS1)
• Bardet-Biedl syndrome 20 (IFT172)
• CEBALID syndrome (MN1)
• COACH syndrome 1 (TMEM67)
• 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 dysfunction, impaired intellectual development, hypogonadotropic hypogonadism (PRDM13)
• Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebellofaciodental syndrome (BRF1)
• Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
• Chudley-McCullough syndrome (GPSM2)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital disorder of glycosylation, type Iq (SRD5A3)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
• Dandy Walker Syndrome [panelapp] (FOXC1)
• Developmental + epileptic encephalopathy 66 (PACS2)
• Dyskeratosis congenita, AR 4 (AR)
• Dyskeratosis congenita, XL (DKC1)
• Fanconi anemia, complementation group B (FANCB)
• Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
• Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
• Gillespie syndrome (ITPR1)
• Harel-Yoon syndrome (ATAD3A)
• Holoprosencephaly 5 (ZIC2)
• Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
• Hydrocephalus, focal epilepsy + hemiparesis [panelapp] (NID1)
• Hypogonadotropic hypogonadism 20 with or without anosmia (FGF17)
• Intellectual developmental disorder, X-linked syndromic, Snijders Blok type (DDX3X)
• Jeune syndrome (TTC21B)
• 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)
• Joubert syndrome 18 (TCTN3)
• Joubert syndrome 19 (ZNF423)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 20 (TMEM231)
• Joubert syndrome 21 (CSPP1)
• Joubert syndrome 23 (KIAA0586)
• Joubert syndrome 24 (TCTN2)
• Joubert syndrome 25 (CEP104)
• Joubert syndrome 26 (KATNIP)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 28 (MKS1)
• Joubert syndrome 29 (TMEM107)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 30 (ARMC9)
• Joubert syndrome 32 (SUFU)
• Joubert syndrome 34 (B9D2)
• Joubert syndrome 38 (KIAA0753)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 8 (ARL13B)
• Joubert syndrome 9 (CC2D2A)
• Kahrizi syndrome (SRD5A3)
• Leukodystrophy, hypomyelinating, 9 (RARS1)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 8 (TMTC3)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Macrothrombocytopenia, isolated, 2, AD (TUBA8)
• Meckel syndrome 11 (TMEM231)
• Meckel syndrome 13 (TMEM107)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 6 (CC2D2A)
• Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
• Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
• Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
• Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (RXYLT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 )GMPPB)
• 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)
• Neu-Laxova syndrome 1 (PHGDH)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
• Neurodevelopmental disorder with microcephaly, arthrogryposis, structural brain anomalies (SMPD4)
• Orofaciodigital syndrome I (OFD1)
• Orofaciodigital syndrome IV (TCTN3)
• Orofaciodigital syndrome VI (CPLANE1)
• Orofaciodigital syndrome XIV (C2CD3)
• Orofaciodigital syndrome XVI (TMEM107)
• Pancreatic + cerebellar agenesis (PTF1A)
• Phosphoglycerate dehydrogenase deficiency (PHGDH)
• Polymicrogyria +/- vascular-type EDS (COL3A1)
• Polymicrogyria with optic nerve hypoplasia (TUBA8)
• Polymicrogyria, bilateral frontoparietal (ADGRG1)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PI4KA)
• Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
• Pontocerebellar hypoplasia type 10 (CLP1)
• Pontocerebellar hypoplasia type 11 (TBC1D23)
• Pontocerebellar hypoplasia type 12 (COASY)
• Pontocerebellar hypoplasia type 16 (MINPP1)
• Pontocerebellar hypoplasia type 17 (PRDM13)
• Pontocerebellar hypoplasia type 1A (VRK1)
• Pontocerebellar hypoplasia type 1B (EXOSC3)
• Pontocerebellar hypoplasia type 1C (EXOSC8)
• Pontocerebellar hypoplasia type 1E (SLC25A46)
• Pontocerebellar hypoplasia type 2A (TSEN54)
• Pontocerebellar hypoplasia type 2B (TSEN2)
• Pontocerebellar hypoplasia type 2C (TSEN34)
• Pontocerebellar hypoplasia type 2D (SEPSECS)
• Pontocerebellar hypoplasia type 2E (VPS53)
• Pontocerebellar hypoplasia type 2F (TSEN15)
• Pontocerebellar hypoplasia type 3 (PCLO)
• Pontocerebellar hypoplasia type 4 (TSEN54)
• Pontocerebellar hypoplasia type 5 (TSEN54)
• Pontocerebellar hypoplasia type 6 (RARS2)
• Pontocerebellar hypoplasia type 7 (TOE1)
• Pontocerebellar hypoplasia type 8 (CHMP1A)
• Pontocerebellar hypoplasia, hypotonia + respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
• Poretti-Boltshauser syndrome (LAMA1)
• Revesz syndrome (TINF2)
• Ritscher-Schinzel syndrome 3 (C16orf62)
• Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Spastic paraplegia 63 (AMPD2)
• Spastic paraplegia 84, AR (PI4KA)
• Spinocerebellar ataxia 13 (KCNC3)
• Spinocerebellar ataxia 15 (ITPR1)
• Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
• Spinocerebellar ataxia 42 (CACNA1G)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia 5 (SPTBN2)
• Spinocerebellar ataxia, AR 14 (SPTBN2)
• Spinocerebellar ataxia, AR 17 (CWF19L1)
• Spinocerebellar ataxia, AR 20 (SNX14)
• Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)