Search Ontology:
Human Disease
Zaki syndrome
- Term ID
- DOID:0070473
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0070473 )
- is a type of
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Genes Involved
Zebrafish Models