Mental Retardation, Autosomal Dominant 44; Mrd44

Description

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 44; Mrd44

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Microcephaly
  • Micrognathia
  • Motor delay
  • Epicanthus
  • High palate
  • Feeding difficulties
And another 45 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 Dominant 44; Mrd44 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MECP2, STXBP1, TUSC3, ACSL4, SLC9A6, SLC6A8, ARX, FOXG1, MEF2C, SLC2A1, SMC1A, SCN2A, GRIN2B, CHD2, MBD5, TBC1D24, DEAF1, PQBP1, SCN8A, GRIN1 , (...)

View the complete list with 90 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 %
TRIO.

By Fulgent Genetics Fulgent Genetics in United States.

TRIO
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 Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, TBL1XR1, KANSL1, GRIN1, DYRK1A, SETBP1, ADNP, KIRREL3, EHMT1, ARID1B, CTNNB1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA2, APC, TP53, RET, FGFR2, CDH1, STK11, MET, LRRK2, S1PR2, CTNNB1, NOTCH1, SPEG, PIK3CA, FBXW7, PRKDC, ERBB2, MYC, DCC, TRIO , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
TRIO-Related Intellectual Disability: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRIO
Specificity
100 %
Genes
100 %


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