Mental Retardation, Autosomal Recessive 49; Mrt49

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 49; Mrt49

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Delayed speech and language development
  • Dysarthria
  • Hyperreflexia
And another 8 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, Autosomal Recessive 49; Mrt49 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Mental retardation, autosomal recessive type 49.

By Centogene AG - the Rare Disease Company in Germany.

GPT2
Specificity
100 %
Genes
100 %
GPT2.

By Fulgent Genetics Fulgent Genetics in United States.

GPT2
Specificity
100 %
Genes
100 %

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