Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060806 )
Relationships
is a type of
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Genes Involved
Zebrafish Models