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GENATLAS PHENOTYPE
last update : 09-10-2017
Symbol MRXSH
Location Xp11.4
Name mental retardation, X-linked, syndromic, Hedera type
Other name(s) mental retardation, with epilepsy
Corresponding gene ATP6AP2
Other symbol(s) XMRE
Main clinical features
  • mild to moderate mental retardation and epilepsy
  • delays in motor milestones and speech acquisition in infancy with generalized tonic-clonic seizures developed in all subjects between 4 and 14 months of age, additional drop attacks consisting of brief atonic or myoclonic seizures with loss of posture
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    Type disease
    Gene product
    Name ATPase, H+ transporting, lysosomal accessory protein 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/loss of function in a putative exonic splicing enhancer site resulted in inefficient inclusion of exon 4
    Remark(s)