Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autismus

Austismus ist eine neurologisce Entwicklungsstörung, die sich vor allem in einer gestörten sozialen Interaktion zeigt. Dazu gehört eine gestörte verbale und nicht-verbale Kommunication. Verschiedene genetische Störungen sind für ein solche Fehlentwicklung verantwortlich gemacht worden.

Gliederung

Erbliche Nervenerkrankungen
Alzheimer Erkrankung
Autismus
Aniridie-Wilms-Tumor-Syndrom
PAX6
WT1
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
FOXP1
Williams-Beuren-Syndrome
ELN
X-chromosomale Veranlagung für Autismus
MECP2
Autosomal dominante zerebelläre Ataxie mit Schwerhörigkeit und Narkolepsie
Autosomal rezessive spastische Paraplegie 44
Brunner-Syndrom
Hereditäre distale Motorneuronen-Neuropathie Typ 5A
Hereditäre sensorisch-autonome Neuropathie Typ 2A
Hereditäre sensorische Neuropathie Typ 1E
Hypokalämische periodische Paralyse 1
Hypomyelinisierte Leukodystrophy 2
Idiopathische Kalzifikation der Basalganglien 1
Inkludionskörpermyopathie 2
Nemaline-Myopathy 5
Neonatale Enzephalopathie mit Mikrozephalie
Nonaka-Myopathie
Porenzephalie
Rett-Syndrom
Spastische Paraplegie 17 mit Amyotrophie der Hände und Füße
Syndrom der Intelligenzminderung mit stark verzögerter Sprachentwicklung und milden Dysmorphien
X-chromosomale syndromale mentale Retardierung 13
Zerebrale Mikroangiopathie mit Blutung

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