Intellectual Developmental Disorder, Autosomal Dominant 7 (MRD7)

Intellectual Developmental Disorder, Autosomal Dominant 7(来自ICD-11)

别称:

Mrd7

Autosomal Dominant Intellectual Developmental Disorder 7

Mental Retardation, Autosomal Dominant 7

Dyrk1a Syndrome

Autosomal Dominant Non-Syndromic Intellectual Disability 7

Dyrk1a-Related Intellectual Disability Syndrome

Mental Retardation, Autosomal Dominant, Type 7

Autosomal Dominant Mental Retardation 7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 7, also known as mrd7, is related to dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion and intellectual disability syndrome due to a dyrk1a point mutation, and has symptoms including ataxia An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 7 is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A), and among its related pathways/superpathways are Neuroscience and DYRK1A involvement regarding cell proliferation in brain development. Affiliated tissues include eye and brain, and related phenotypes are delayed speech and language development and microcephaly

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