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Human Disease

Zaki syndrome

Term ID
DOID:0070473
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. (2)
References
Ontology
Human Disease   ( DOID:0070473 )
Relationships
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Genes Involved
Zebrafish Models