Conditions / Syndrome
Mowat-Wilson syndrome
info · Syndrome
A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Signs and symptoms
- Tooth malposition
- Severe intellectual disability
- Low hanging columella
- Delayed speech and language development
- Abnormal corpus callosum morphology
- Generalized hypotonia
- Microcephaly
- Abnormal hippocampus morphology
- Seizure
- Delayed eruption of teeth
Also known as: Hirschsprung disease mental retardation syndrome; microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease