Mental Retardation, Autosomal Recessive 36; Mrt36

Clinical Features

Phenotypes and symptoms related to Mental Retardation, Autosomal Recessive 36; Mrt36

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Ventriculomegaly
  • Delayed myelination
  • Esotropia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Mental Retardation, Autosomal Recessive 36; Mrt36 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, autosomal recessive 36 (sequence analysis of ADAT3 gene).

By CGC Genetics in Portugal.

ADAT3
Specificity
100 %
Genes
100 %
Mental retardation, autosomal recessive 36 (sequence analysis of ADAT3 gene).

By CGC Genetics in Portugal.

ADAT3
Specificity
100 %
Genes
100 %
Intellectual Disability via ADAT3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADAT3
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 %
Mental retardation, autosomal recessive type 36.

By Centogene AG - the Rare Disease Company in Germany.

ADAT3
Specificity
100 %
Genes
100 %
ADAT3.

By Fulgent Genetics Fulgent Genetics in United States.

ADAT3
Specificity
100 %
Genes
100 %

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