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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 65

Intellectual developmental disorder, autosomal dominant 65

Synonyms
MENTAL RETARDATION, AUTOSOMAL DOMINANT 65

Summary

Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed (Duncan et al., 2020). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JMJD2B, MRD65, TDRD14B, KDM4B
    Summary: lysine demethylase 4B

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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