Autosomal Dominant Intellectual Developmental Disorder 13 (MRD13)

Autosomal Dominant Intellectual Developmental Disorder 13(来自ICD-11)

别称:

Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects

Autosomal Dominant Non-Syndromic Intellectual Disability 13

Autosomal Dominant Mental Retardation 13

Mrd13

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Autosomal Dominant Intellectual Developmental Disorder 13, also known as mental retardation, autosomal dominant 13, with neuronal migration defects, is related to cortical dysplasia, complex, with other brain malformations 13 and distal hereditary motor neuronopathy type 7. An important gene associated with Autosomal Dominant Intellectual Developmental Disorder 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways is Lissencephaly gene (LIS1) in neuronal migration and development. Related phenotypes are cerebellar vermis hypoplasia and frontal polymicrogyria

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