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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-10-2015
Symbol MRD7
Location 21q22.13
Name mental retardation, autosomal dominant 7
Corresponding gene DYRK1A
Main clinical features
  • primary microcephaly (-3 SD), severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip
  • mental retardation, microcephaly, epilepsy, and language delay are the more specific features
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
    Remark(s)