Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 09-10-2017
Symbol MRX88
Location Xq23
HGNC id 7266
Name mental retardation, 88
Corresponding gene AGTR2
Main clinical features
  • with autistic behavior, profound mental retardation, epileptic seizures, restlesness, hyperactivity, disturbed development of speech
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Gene product
    Name angiotensin II receptor, type 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function (G21V)(I53F) in Finnish population
    Remark(s)