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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 61

Intellectual disability, autosomal recessive 61

Synonyms
ALWADEI SYNDROME; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61

Summary

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Iporin, MRT61, RUSC2
    Summary: RUN and SH3 domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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