GAPO syndrome

Term ID

DOID:0112249

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. (2)

References

• OMIM:230740
• ORDO:2067

Ontology

Human Disease   ( DOID:0112249 )