Warburg Micro syndrome [OMIM #600118] is a rare autosomal recessive condition characterized by ocular and neurodevelopmental abnormalities and hypothalamic hypogonadism. Key clinical features include microphthalmia, microcornia, congenital cataracts, optic atrophy, microcephaly, cortical dysplasia and atrophy, congenital hypotonia, severe intellectual disability, and spastic diplegia. Progressive joint contractures, growth failure, kyphoscoliosis and hypertrichosis have also been described in a proportion of affected individuals. In addition to the characteristic ocular findings, common facial features include deep set eyes, wide nasal bridge and a narrow mouth. Brain magnetic resonance imaging (MRI) of affected individuals consistently shows polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, thin corpus callosum and increased subdural spaces. Mutations in RAB3GAP1, RAB3GAP2 and RAB18 have been identified in individuals with Warburg Micro syndrome.
Our Warburg Micro Sequencing Panel includes sequence analysis of the following 4 genes: RAB18, RAB3GAP1, RAB3GAP2, TBC1D20.
Any gene in the Warburg Micro Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.