Mental Retardation, Autosomal Dominant 47; Mrd47

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 47; Mrd47

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Feeding difficulties
  • Delayed speech and language development
  • Cerebral atrophy
  • Encephalopathy
  • Gastroesophageal reflux
And another 4 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.


Mendelian

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Mental Retardation, Autosomal Dominant 47; Mrd47 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Prostate cancer.

By Centogene AG - the Rare Disease Company in Germany.

STAG1
Specificity
100 %
Genes
100 %
STAG1.

By Fulgent Genetics Fulgent Genetics in United States.

STAG1
Specificity
100 %
Genes
100 %
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 %

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