| Metadata | |
|---|---|
| ID | DOID:0070473 |
| Name | Zaki syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/34587386/, https://pubmed.ncbi.nlm.nih.gov/37005218/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |