Intellectual Developmental Disorder, Autosomal Dominant 7 (MRD7)

Alias:
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
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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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Basic Information

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Reference
MALACARDS
AD
Unknown
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12
62
46

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Gene & Mutation

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References Literature

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