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GENATLAS PHENOTYPE
last update : 10-01-2009
Symbol MRAA
Location 19q13.1
Name mental retardation, ataxia and atrophy of brain
Corresponding gene PAFAH1B3
Main clinical features
  • coloboma of the left iris and congenital clubfeet, motor developmental delay, fine motor skills were impaired with clumsy hand movements, delayed speech development
  • generalized seizures; electroencephalography revealed multifocal spikes and sharp wave discharges; at CT scans, slight cortical and subcortical asymmetric atrophy of the brain
  • Genetic determination not applicable
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name platelet activating factor : acetylhydrolase,isoform 1b,gamma sununit,truncated and fused with CLK2 in translocation t(1;19) (q21.3;q13.2)
    Remark(s)