Term Name: | syndromic X-linked intellectual disability Hedera type |
---|---|
Synonyms: | mental retardation, X-linked, syndromic, Hedera type, MRXE, MRXSH, X-linked mental retardation with epilepsy |
Definition: | A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. |
Ontology: | Human Disease [DOID:0060806] ( DOID:0060806 ) |