Conditions / Syndrome
Van Maldergem syndrome 2
info · Syndrome
A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.
Signs and symptoms
- Epicanthus
- Hearing impairment
- Renal hypoplasia
- Hypotonia
- Prominent forehead
- Micropenis
- Hypoplasia of the corpus callosum
- Feeding difficulties
- Full cheeks
- Global developmental delay