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GENATLAS PHENOTYPE
last update : 29-04-2011
Symbol WARBM1
Location 2q21.3
Name Warburg micro syndrome 1
Other name(s) micro syndrome
Corresponding gene RAB3GAP1
Main clinical features
  • microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism, agenesis of corpus callosum, abnormal gyration, and spastic cerebral palsy
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    eye
    neurology
    Type MCA/MR
    Gene product
    Name RAB3 GTPase activating protein, p130 catalytic subunit
    Remark(s)