Version: 8.0.0
Date: Tue Jan 28 2025
Zaki syndrome
DOID:0070473
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

      Model
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