| Term Name: | Zaki syndrome |
|---|---|
| Synonyms: | |
| Definition: | A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. |
| Ontology: | Human Disease [DOID:0070473] ( DOID:0070473 ) |