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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 82

Intellectual developmental disorder, autosomal recessive 82

Summary

Autosomal recessive intellectual developmental disorder-82 (MRT82) is characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities (Mattioli et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 4933414E04Rik, ARL5B-AS1, MRT82, NOPD1, NSUN6
    Summary: NOP2/Sun RNA methyltransferase 6

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