Intellectual Developmental Disorder, Autosomal Dominant 46 (MRD46)

Alias:

Autosomal Dominant Intellectual Developmental Disorder 46

Mrd46

Mental Retardation, Autosomal Dominant, Type 46

Intellectual Disability, Autosomal Dominant 46

Mental Retardation, Autosomal Dominant 46

Autosomal Dominant Mental Retardation 46

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 46, also known as autosomal dominant intellectual developmental disorder 46, is related to paternal uniparental disomy of chromosome 6 and neonatal diabetes. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 46 is KCNQ5 (Potassium Voltage-Gated Channel Subfamily Q Member 5). Affiliated tissues include brain, and related phenotypes are intellectual disability and hypotonia

Related ID：

MALACARDS：INT555

OMIM：617601

MESH：D008607