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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 81

Intellectual developmental disorder, autosomal recessive 81

Summary

Autosomal recessive intellectual developmental disorder-81 (MRT81) is characterized by a variable neurobehavioral and neuromuscular phenotype (summary by Nair et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASC1p200, HELIC1, MRT81, RNAH, ASCC3
    Summary: activating signal cointegrator 1 complex subunit 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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