Mental Retardation, Autosomal Recessive 44; Mrt44

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 44; Mrt44

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment
  • Depressed nasal bridge
  • Anteverted nares
  • Long philtrum
  • Syndactyly
  • Pes planus

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Mental Retardation, Autosomal Recessive 44; Mrt44 Recommended genes panels

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

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
METTL23.

By Fulgent Genetics Fulgent Genetics (United States).

METTL23
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VERHEIJ SYNDROME; VRJS MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD SIALURIA LIEBENBERG SYNDROME; LBNBG ARGININOSUCCINIC ACIDURIA HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6

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