Warburg microsyndrome 1 (WARBM1)

Genetics

• autosomal recessive
• caused by defects in RAB3GAP1 gene

Clinical manifestations

• developmental anomaly involving
  • eye
  • central nervous system
• microgenitalia

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kD subunit, Rab3-GAP p130, Rab3-GAP, RAB3GAP1, KIAA0066, RAB3GAP)