Mental Retardation, X-linked, Syndromic 11; Mrxs11
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.
Genes related to Mental Retardation, X-linked, Syndromic 11; Mrxs11
Clinical FeaturesTop most frequent phenotypes and symptoms related to Mental Retardation, X-linked, Syndromic 11; Mrxs11
- Intellectual disability
- Hearing impairment
- Sensorineural hearing impairment
- Abnormal facial shape
- Delayed speech and language development
- Coarse facial features
- Intellectual disability, moderate
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 , (...)
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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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