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GENATLAS PHENOTYPE
last update : 13-07-2020
Symbol MRD44
Location 5p15.2
Name mental retardation, autosomal dominant 44
Corresponding gene TRIO
Main clinical features
  • mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal jointsX
  • most patients also have microcephaly
  • recurrent behavioral features seen across all individuals included stereotypies, poor attention, obsessive compulsive traits, autistic traits, and aggression (PMID: 32109419))
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    psychiatry disorder
    Type disease
    Remark(s) . potential genotype-phenotype correlation based on the location of the mutation; this correlation will serve as a useful adjunct for clinical evaluation and the interpretation of variant pathogenicity (PMID: 32109419))