GAPO syndrome (DOID:0112249)
Alliance: disease page
Synonyms: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Alt IDs: OMIM:230740, ORDO:2067
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.