syndromic X-linked intellectual disability Hedera type (DOID:0060806)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic, Hedera type; MRXE; MRXSH; X-linked mental retardation with epilepsy
Alt IDs: OMIM:300423, ORDO:93952
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.