ErkrankungCortex-Malformationen, Differentialdiagnose

NGS +

• Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
• Alias: Neuronale Migrationsstörungen
• Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
• Allelic: Deafness, AD 83 (MAP1B)
• Allelic: Meningioma (MN1)
• Allelic: Migraine, familial basilar (ATP1A2)
• Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
• Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• CEBALID syndrome (MN1)
• Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
• Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
• Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (TMX2)
• Chudley-McCullough syndrome (GPSM2)
• Congenital heart defects, dysmorphic facial features + intellectual developmental disorder (CDK13)
• 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 malformations, occipital (LAMC3)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• FG syndrome 2 (FLNA)
• FG syndrome 4 (CASK)
• Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, dysmorphic facies (ATP1A2)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Genitourinary and/or/ brain malformation syndrome (PPP1R12A)
• Heimler syndrome 1 (PEX1)
• Heterotopia, periventricular, 1 (FLNA)
• Hydranencephaly with abnormal genitalia (ARX)
• Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
• Intellectual developmental disorder, AR 74 (APC2)
• Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
• Intellectual developmental disorder, with/-out nystagmus (CASK)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 10 (CEP85L)
• Lissencephaly 4 [with microcephaly] (NNDE1)
• Lissencephaly 5 (LAMB1)
• Lissencephaly 6, with microcephaly (KATNB1)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Lissencephaly, XL (DCX)
• Lissencephaly, XL 2 (ARX)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
• Mental retardation, AD 13 (DYNC1H1)
• Microcephaly 5, primary, AR (ASPM)
• Microhydranencephaly (NDE1)
• Muscular dystrophy, cong., merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
• 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 (ISPD)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)
• Partington syndrome (ARX)
• Periventricular heterotopia with microcephaly (ARFGEF2)
• Periventricular nodular heterotopia 7 (NEDD4L)
• Periventricular nodular heterotopia 9 (MAP1B)
• Peroxisome biogenesis disorder 1A [Zellweger] (Pex1)
• Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
• Polymicrogyria, bilateral frontoparietal + bilateral perisylvian (ADGRG1)
• Proud syndrome (ARX)
• Pseudo-TORCH syndrome 1 (OCLN)
• Schizencephaly (EMX2)
• Smith-Kingsmore syndrome (MTOR)
• Subcortical laminal heterotopia, XL (DCX)
• Subcortical laminar heterotopia (PAFAH1B1)