syndromic X-linked intellectual disability Hedera type

Term ID

DOID:0060806

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. (2)

References

• OMIM:300423
• ORDO:93952

Ontology

Human Disease   ( DOID:0060806 )