Term Name: Zaki syndrome
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.
Ontology: Human Disease [DOID:0070473]   ( DOID:0070473 )

Relationships
is a type of: autosomal recessive disease syndrome