Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 26-01-2022
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
  • in any cases, associated with congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) (PMID: 31263215))
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease