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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 3

Intellectual disability, autosomal recessive 3

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 3

Summary

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. [from MONDO]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Aki-1, FREUD-1, Freud-1/Aki1, Lgd2, MRT3, TAPE, CC2D1A
    Summary: coiled-coil and C2 domain containing 1A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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