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GAPO syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112249
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
