FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Zaki syndrome ID (Ontology) DOID:0070473 (Human Disease)
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.
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 Genes
 Zaki syndrome       1
 for disease ribbon | Zaki syndrome       1
 model of | Zaki syndrome       1
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Zaki syndrome  1 rec.
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Is a autosomal recessive disease
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MIM:619648