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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder 61

Intellectual developmental disorder 61

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MENTAL RETARDATION, AUTOSOMAL DOMINANT 61

Summary

Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARC250, DRIP250, HSPC221, MRD61, THRAP1, TRAP240, MED13
    Summary: mediator complex subunit 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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