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

• MIM:619648

Ontology

Human Disease   ( DOID:0070473 )