Details of Disease

General Information of Disease (ID: DISLK2OE)

• Disease Name: Syndromic X-linked intellectual disability Hedera type
• Synonyms: mental retardation, X-linked, with epilepsy; intellectual disability, X-linked, with epilepsy; X-linked intellectual disability, Hedera type; MRXE; intellectual disability, X-linked, syndromic, Hedera type; mental retardation, X-linked, syndromic, Hedera type; intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive; MRXSH; X-linked intellectual disability with epilepsy; X-linked mental retardation with epilepsy
• Definition: X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
• Disease Hierarchy:
  DISIM2J4: X-linked intellectual disability-epilepsy syndrome
  DISJP8P3: ATP6AP2-related disorder
  DISLK2OE: Syndromic X-linked intellectual disability Hedera type
• Disease Identifiers:
  MONDO ID: MONDO_0010319
  MESH ID: C564516
  UMLS CUI: C1845543
  OMIM ID: 300423
  MedGen ID: 337257
  Orphanet ID: 93952
  SNOMED CT ID: 726727003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6AP2	OT0IABVV	Strong	X-linked	[1]

References

• [1] A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3.