Term Name: GAPO syndrome
Synonyms: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Definition: A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3.
Ontology: Human Disease [DOID:0112249]   ( DOID:0112249 )

Relationships
is a type of: autosomal recessive disease syndrome