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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 67

Intellectual developmental disorder, autosomal dominant 67

Synonyms
MENTAL RETARDATION, AUTOSOMAL DOMINANT 67

Summary

Autosomal dominant intellectual developmental disorder-67 (MRD67) is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties. Brain imaging is normal (Ismail et al., 2022). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLUH1, GLUR1, GLURA, GluA1, HBGR1, MRD67, MRT76, GRIA1
    Summary: glutamate ionotropic receptor AMPA type subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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