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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-10-2017
Symbol MRX21
Location Xp21.3
HGNC id 7251
Name mental retardation, 21
Corresponding gene IL1RAPL1
Other symbol(s) MRX34
Main clinical features
  • nonspecific X-linked mental retardation. obesity, hypogenitalism, autism
  • moderate mental retardation with no additional neurologic impairment, statural growth deficiency
  • developmental delay, features of autism, facial dysmorphism
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   truncated protein W487X, in exon 10, point mutation
    Remark(s) disruption of IL1RAPL1 having the potential of causing a wide spectrum of conditions ranging from mental retardation to high-functioning autism