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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 30

Intellectual disability, autosomal dominant 30

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES

Summary

Autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities (MRD30) is characterized by developmental delay apparent from early infancy. Cognitive impairment is variable; many patients are able to attend special schools. Behavioral abnormalities, including ADHD, autistic features, and aggression are commonly observed. Additional features may include various types of seizures, hypotonia, mild skeletal defects, feeding difficulties, and dysmorphic features (Yates et al., 2020; Oates et al., 2021). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRAM1, BS69, MRD30, ZMYND11
    Summary: zinc finger MYND-type containing 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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