Mental Retardation, X-linked, Syndromic 11; Mrxs11

Description

X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked, Syndromic 11; Mrxs11

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Delayed speech and language development
  • Obesity
  • Coarse facial features
  • Macrotia
  • Intellectual disability, moderate
And another 11 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Mental Retardation, X-linked, Syndromic 11; Mrxs11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Mental Retardation, X-linked, Syndromic 11; Mrxs11 Is also known as shashi x-linked mental retardation syndrome;smrxs, mental retardation, x-linked, shashi type;syndromic x-linked intellectual disability type 11.


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