Klinische FragestellungMentale Retardierung bei [ponto-]zerebellärer Hypoplasie, Differentialdiagnose

NGS +

illness_ClinicalComment_MP7899

• Alias: Intellectual disability
• Alias: Psycho-motor retardation
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Aniridia (PAX6)
• Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Dyskeratosis congenita, XL (DKC1)
• Allelic: Dystonia 4, torsion, AD (TUBB4A)
• Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Hydrocephalus, congenital, 1 (CCDC88C)
• Allelic: Keratitis (PAX6)
• Allelic: Morning glory disc anomaly (PAX6)
• 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, 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: Myoclonus, familial, 2 (SCN8A)
• Allelic: Optic atrophy 12 (AFG3L2)
• Allelic: Optic atrophy 9 (ACO2)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Pancreatic agenesis 2 (PTF1A)
• Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Seizures, benign familial infantile, 5 (SCN8A)
• Allelic: Thyroid carcinoma, follicular (MINPP1)
• Aniridia, cerebellar ataxia + mental retardation [panelapp] (PAX6)
• 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, visual impairment + psychomotor retardation (EMC1)
• Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebellar, ocular, craniofacial + genital syndrome (MAB21L1)
• Cerebellofaciodental syndrome (BRF1)
• Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Congenital disorder of glycosylation, type Ia (PMM2)
• 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 8 (TUBA8)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 28(WWOX)
• Developmental + epileptic encephalopathy 66 (PACS2)
• Gillespie syndrome (ITPR1)
• Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
• Hypomyelination + atrophy of basal ganglia + cerebellum [panelapp] (TUBB4A)
• Infantile cerebellar-retinal degeneration (ACO2)
• Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
• Intellectual disability [MONDO:0001071] (HEATR5B)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Lissencephaly 3 (TUBA1A)
• Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
• Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
• Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS)
• Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
• 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 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 retard.), type B, 5 (FKRP)
• Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
• Pancreatic + cerebellar agenesis (PTF1A)
• 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 4 (TSEN54)
• 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)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic paraplegia 63 (AMPD2)
• Spastic paraplegia 82, AR (PCYT2)
• 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 5 (SPTBN2)
• 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 23 (TDP2)
• Spinocerebellar ataxia, AR 30 (PIRM1)