Mowat-Wilson syndrome

Mowat-Wilson syndrome
an autosomal dominant complex developmental disorder caused by a microdeletion or mutation in the long arm of chromosome 2 (2q22). It is characterized by a typical facies; mental retardation; delayed motor development; epilepsy; and multiple congenital anomalies, including agenesis of the corpus callosum and genital, cardiac, and eye defects. Hirschsprung disease is often present.

Medical dictionary. 2011.

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  • Syndrome de Mowat-Wilson — Référence MIM 235730 Transmission Dominante Chromosome 2q22 Gène ZEB2 Mutation Délétion Ponctuelle …   Wikipédia en Français

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