syndromic X-linked intellectual disability Hedera type

Summary
Synonym
  • MRXE
  • MRXSH
  • X-linked mental retardation with epilepsy
  • mental retardation, X-linked, syndromic, Hedera type
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.
Super Class
syndromic X-linked intellectual disability
Disease Ontology
DOID:0060806
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
170302 ARX aristaless related homeobox
Displaying 1 entry
Gene ID Gene Symbol Description Source
41104 ATP6AP2 ATPase H+ transporting accessory protein 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 45 in total
HPO ID HPO Term
HP:0000338 Hypomimic face
HP:0000750 Delayed speech and language development
HP:0001249 Intellectual disability
HP:0001270 Motor delay
HP:0001272 Cerebellar atrophy
HP:0001288 Gait disturbance
HP:0001310 Dysmetria
HP:0001350 Slurred speech
HP:0001513 Obesity
HP:0001621 Weak voice
Displaying 1 entry
Gene ID Gene Symbol Description
10159 ATP6AP2 ATPase H+ transporting accessory protein 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024