Disease - Warburg micro syndrome 2
- DefinitionA rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism.
- AcronymWARBM2
- Alternative names
- Cross references
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Browse 1 entry- Rab3 GTPase-activating protein non-catalytic subunit · Gene: RAB3GAP2 (KIAA0839) · Homo sapiens (Human) · 1393 amino acids · Evidence at protein level · Annotation score: 5/5