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Warburg microsyndrome 1 (WARBM1)
Genetics:
1) autosomal recessive
2) caused by defects in RAB3GAP1 gene
Clinical manifestations:
1) developmental anomaly involving
a) eye
b) central nervous system
2) microgenitalia
Related
Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kD subunit, Rab3-GAP p130, Rab3-GAP, RAB3GAP1, KIAA0066, RAB3GAP)
General
genetic syndrome (multisystem disorder)
References
OMIM :accession 600118