Klinische FragestellungCortex-Malformationen, Differentialdiagnose

NGS +

• Alias: Kortikale Dysplasie
• 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)
• Agenesis of corpus callosum, cardiac, ocular + genital syndrome (CDH2)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Meningioma (PTEN)
• Allelic: Mitral valve prolapse 2 (DCHS1)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Arrhythmogenic right ventricular dysplasia, familial, 14 (CDH2)
• Band heterotopia (EML1)
• Baraitser-Winter syndrome 1 (ACTB)
• Baraitser-Winter syndrome 2 (ACTG1)
• Bryant-Li-Bhoj neurodevelopmental syndrome 1 (H3-3A)
• CAPOS syndrome (ATP1A3)
• 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)
• Ciliary dyskinesia, primary, 47, and lissencephaly (TP73)
• 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 dysplasia, complex, with other brain malformations 9 (CTNNA2)
• Cortical malformations, occipital (LAMC3)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• Developmental and epileptic encephalopathy 101 (GRIN1)
• Developmental and epileptic encephalopathy 27 (GRIN2B)
• Developmental and epileptic encephalopathy 62 (SCN3A)
• Developmental and epileptic encephalopathy 99 (ATP1A3)
• Dystonia-12 (ATP1A3)
• Epilepsy, familial focal, with variable foci 1 (DEPDC5)
• Epilepsy, familial focal, with variable foci 2 (NPRL2)
• Epilepsy, familial focal, with variable foci 3 (NPRL3)
• Epilepsy, familial focal, with variable foci 4 (SCN3A)
• 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, AD 6, +/- seizures (GRIN2B)
• Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
• Intellectual developmental disorder, AR 74 (APC2)
• Intellectual developmental disorder, AR 75, neuropsychiatric features/variant lissencephaly (PIDD1)
• Intellectual developmental disorder, microcephaly with pontine + cerebellar hypoplasia (CASK)
• Intellectual developmental disorder, with/-out nystagmus (CASK)
• Lhermitte-Duclos disease (PTEN)
• 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)
• Macrocephaly/autism syndrome (PTEN)
• Martsolf syndrome 1 (RAB3GAP2)
• Martsolf syndrome 2 (RAB3GAP1)
• 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)
• Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 13 (B4GAT1)
• Neurodevelopmental disorder +/- hyperkinetic movements, seizures, AD (GRIN1)
• Neurodevelopmental disorder +/- hyperkinetic movements, seizures, AR (GRIN1)
• Neurodevelopmental disorder +/- variable brain abnormalities (MAPK8IP3)
• Neurodevelopmental disorder with spasticity, seizures + brain abnormalities (NSRP1)
• Okur-Chung neurodevelopmental syndrome (CSNK2A1)
• Orofaciodigital syndrome [MONDO:0015375] (TBC1D32)
• 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 8 (ARF1)
• Periventricular nodular heterotopia 9 (MAP1B)
• Peroxisome biogenesis disorder 1A [Zellweger] (Pex1)
• Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
• Polymicrogyria, bilateral frontoparietal + bilateral perisylvian (ADGRG1)
• Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
• Proud syndrome (ARX)
• Pseudo-TORCH syndrome 1 (OCLN)
• Ritscher-Schinzel syndrome 4 (DPYSL5)
• Schizencephaly (EMX2)
• Smith-Kingsmore syndrome (MTOR)
• Spastic paraplegia 84, AR (PI4KA)
• Subcortical laminal heterotopia, XL (DCX)
• Subcortical laminar heterotopia (PAFAH1B1)
• Van Maldergem syndrome 1 (DCHS1)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)