Mental Retardation, Autosomal Recessive 39; Mrt39

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 39; Mrt39

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Strabismus
  • Abnormal facial shape
  • Delayed speech and language development
  • Abnormality of the dentition
And another 13 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 39; Mrt39 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 AR type 39 (sequence analysis of TTI2 gene).

By CGC Genetics in Portugal.

TTI2
Specificity
100 %
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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Mental retardation, autosomal recessive type 39.

By Centogene AG - the Rare Disease Company in Germany.

TTI2
Specificity
100 %
Genes
100 %
TTI2.

By Fulgent Genetics Fulgent Genetics in United States.

TTI2
Specificity
100 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, STXBP1, TUSC3, ACSL4, SLC6A8, ARX, MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, PQBP1, TBL1XR1, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, TUSC3, ST3GAL3, NRXN1, CNTNAP2, NSUN2, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, VLDLR, TTI2, TAF2, NDST1, WASHC4, FMN2, CRADD, ANK3, TECR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

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