Septooptic dysplasia is an autosomal recessive or dominant disorder with variable penetrance caused by mutations of the HESX1 gene. Clinically it is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. Only 30% presents with alls these abnormalities.
The disease is associated with younger maternal age and its incidence 1 in 10,000 life births.[Error: Macro 'ref' doesn't exist]
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