Mental Retardation, Autosomal Recessive 48; Mrt48

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 48; Mrt48

  • Intellectual disability
  • Global developmental delay
  • Intellectual disability, severe
  • Tremor
  • Long philtrum
  • Absent speech
  • Mandibular prognathia
  • Macrotia
  • Aggressive behavior
  • Blepharophimosis
And another 10 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 Recessive 48; Mrt48 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, UBE3A, HSD17B10, OCRL, HPRT1, NHS, MECP2, IDH2, STXBP1, TUBA1A, TUSC3, ALG6, D2HGDH, PDHA1, MAOA, ACSL4, SLC9A6, BCOR, ALDH5A1, L2HGDH , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
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 %
SLC6A17.

By Fulgent Genetics Fulgent Genetics in United States.

SLC6A17
Specificity
100 %
Genes
100 %

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