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Zaki syndrome
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070473
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
