This report describes general characteristics of the group of diseases classified as Warburg micro syndrome (WARBM). A list of WARBM subtypes, as defined by OMIM, can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Feb. 2021 by FlyBase; FBrf0222196]
Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010; pubmed:20512159). [from MIM:600118; 2021.02.02]
RAB3GAP1 and RAB3GAP2 form a binary 'RAB3GAP' complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18. Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP1, RAB3GAP2, or TBC1D20. (Handley et al., 2015; pubmed:26063829).
