Mental Retardation, X-Linked 30

Alternative Names

  • MRX30
  • Mental Retardation, X-Linked 47
  • MRX47
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Mental retardation

OMIM Number

300558

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq23

Description

Mental Retardation, X-Linked 30 is a form of nonsyndromic X-linked mental retardation, caused by mutations in the gene encoding p21-activated kinase-3.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300558.1United Arab EmiratesMale Intellectual disability; Macrocephaly; O...NM_001128166.2:c.1279T>CHemizygousX-linkedAl-Shamsi et al. 2016; Saleh et al. 2021; Hertecant et al. 2017
300558.2United Arab EmiratesMale Intellectual disability; Macrocephaly; D...NM_001128166.2:c.1279T>CHemizygousX-linkedAl-Shamsi et al. 2016; Saleh et al. 2021; Hertecant et al. 2017 Monozygotic twin of ...
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