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.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • Mowat-Wilson syndrome — Classification and external resources Mowat Wilson Syndrome, clinical features of Patient 2 at age: (A) 1 year and 6 months; (B C) 3 years and 5 months; (D E) 8 years and 1 month. OMIM …   Wikipedia

  • Syndrome de mowat-wilson — Autre nom Maladie de Hirschsprung Retard mental Référence MIM …   Wikipédia en Français

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

  • Síndrome de Mowat-Wilson — Clasificación y recursos externos OMIM 235730 DiseasesDB 32975 …   Wikipedia Español

  • Syndrome de goldberg-shprintzen — Voir aussi la page d homonymie Syndrome de Shprintzen Syndrome de Goldberg Shprintzen Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Syndrome de Goldberg-Shprintzen — Voir aussi la page d homonymie Syndrome de Shprintzen Syndrome de Goldberg Shprintzen Référence MIM 609460 Transmission Récessive Chromosome 10q21.1 Gène KIAA1279 …   Wikipédia en Français

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Mild androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

  • Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”