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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 50

Intellectual disability, autosomal dominant 50

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES; MENTAL RETARDATION, AUTOSOMAL DOMINANT 50

Summary

Autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities (MRD50) is characterized by variable levels of impaired intellectual development, delayed speech and motor milestones, and behavioral abnormalities, most commonly autism spectrum disorder (ASD). Some patients may also have mild craniofacial dysmorphism, congenital cardiac anomalies, or seizures (summary by Cheng et al., 2019). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Ga19, MRD50, NARG1, NAT1P, NATH, TBDN, TBDN100, NAA15
    Summary: N-alpha-acetyltransferase 15, NatA auxiliary subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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