Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies. It is caused by an abnormality in the ZFHX1B gene. Anomalies that may be recognized at birth or 1st year of life include:
- CNS
- seizures
- intellectual disability
- distinct facial profile
- genitourinary abnormalities
- renal abnormalities
- male genital abnormalities
- Hirschsprung disease
- heart (cardiac) defects
- short stature
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