Warburg Micro Syndrome Panel

Warburg Micro syndrome 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 individual. 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. This panel includes sequence and deletion/duplication analysis of all the listed genes.