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GENATLAS PHENOTYPE
last update : 14-10-2015
Symbol MRD35
Location 6p21.1
Name mental retardation, autosomal dominant 35
Corresponding gene PPP2R5D
Main clinical features
  • global developmental delay, seizures, ventriculomegaly, narrow forehead, downslanted palpebral fissures, pyloric stenosis, and macrocephaly, deeply set eyes, myopia, strabismus, and generalized hypotonia
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    Type disease
    Remark(s)