Conditions / Syndrome
orofaciodigital syndrome XVI
info · Syndrome
An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Signs and symptoms
- Inguinal hernia
- Postaxial hand polydactyly
- Hypotonia
- Global developmental delay
- Short palpebral fissure
- Motor delay
- Depressed nasal bridge
- Postaxial foot polydactyly
- Retrognathia
- Low-set ears