Klinische FragestellungKleinhirn-Hypoplasie; Differentialdiagnose

NGS +

Gruppe heterogener Erkrankungen

• Alias: Zerebellare Hypoplasie
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Colorectal cancer, somatic (DCC)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, AD 3 (TINF2)
• 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: 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. with/-out 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: 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: Spastic paraplegia 63 (AMPD2)
• Allelic: Thyroid carcinoma, follicular (MINPP1)
• 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 hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Dyskeratosis congenita, AR 4 (AR)
• Dyskeratosis congenita, XL (DKC1)
• 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)
• Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
• Leukodystrophy, hypomyelinating, 9 (RARS1)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
• 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)
• Pancreatic + cerebellar agenesis (PTF1A)
• Phosphoglycerate dehydrogenase deficiency (PHGDH)
• Polymicrogyria with optic nerve hypoplasia (TUBA8)
• Polymicrogyria, bilateral frontoparietal (ADGRG1)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia + 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 1A (VRK1)
• Pontocerebellar hypoplasia type 1B (EXOSC3)
• Pontocerebellar hypoplasia type 1C (EXOSC8)
• 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)
• Revesz syndrome (TINF2)
• Ritscher-Schinzel syndrome 3 (C16orf62)
• 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)