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Intellectual developmental disorder 60 with seizures

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MENTAL RETARDATION, AUTOSOMAL DOMINANT 60, WITH SEIZURES

Summary

Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AP50, CLAPM1, MRD60, mu2, AP2M1
    Summary: adaptor related protein complex 2 subunit mu 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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