Conditions / Syndrome
orofaciodigital syndrome XVII
info · Syndrome
An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
Signs and symptoms
- Decreased body weight
- Micropenis
- Hearing impairment
- Delayed speech and language development
- Renal hypoplasia
- Short stature
- Median cleft upper lip
- Prominent metopic ridge
- Short neck
- Inverted nipples