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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 66

Intellectual developmental disorder, autosomal dominant 66

Synonyms
MENTAL RETARDATION, AUTOSOMAL DOMINANT 66

Summary

Autosomal dominant intellectual developmental disorder-66 (MRD66) is characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay. The phenotype and severity are highly variable. Some patients have behavioral problems or autism spectrum disorder, and about 50% have variable types of seizures. Additional features may include nonspecific dysmorphic facial features, tall or short stature, and mild skeletal anomalies (Rahimi et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRD66, PMCA1, PMCA1kb, ATP2B1
    Summary: ATPase plasma membrane Ca2+ transporting 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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