Term Name: | Zaki syndrome |
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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 ) |