OBO ID: DOID:0060806
Term Name: syndromic X-linked intellectual disability Hedera type Search Ontology:
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)
OTHER syndromic X-linked intellectual disability Hedera type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6AP2 Intellectual developmental disorder, X-linked syndromic, Hedera type 300423
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None