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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 69

Intellectual developmental disorder, autosomal dominant 69

Synonyms
MENTAL RETARDATION, AUTOSOMAL DOMINANT 69

Summary

Autosomal dominant intellectual developmental disorder-69 (MRD69) is characterized by developmental delay with variably impaired intellectual development. Additional features may include intention tremor in infancy and seizures in childhood, with remission of these in adolescence (Alkhater et al., 2019). [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: MRD69, MRT52, VIPL, LMAN2L
    Summary: lectin, mannose binding 2 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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