ErkrankungMikrozephalie mit Polymikrogyrie, Differentialdiagnose

NGS +

Heterogene Gruppe zerebraler Kortikalisfehlbildungen: exzessive kortikale Faltung, abnorme kortikale Schichtung, abhängig von topographischer Verteilung, variable Kombinationen neurologischer Symptome, unterschiedlicher Schweregrad, Epilepsie, Entwicklungsverzögerung, intellektuelle Behinderung, motorische Dysfunktion (Spastizität), pseudobulbäre Lähmung

• Alias: Microcephaly combined with polymicrogyria
• Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Migraine, familial basilar (ATP1A2)
• Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria + dysmorphic facies (ATP1A2)
• Lissencephaly 3 (TUBA1A1)
• Martsolf syndrome (RAB3GAP2)
• Mental retardation, AD 13 (DYNC1H1)
• Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
• Microcephaly 5, primary, AR (ASPM)
• Microcephaly, short stature, polymicrogyria with seizures (RTTN)
• Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (POMGNT1)
• Neurodevelopmental disorder, microcephaly, cortical malformations + spasticity (TMX2)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)