Disease: Absence of septum pellucidum and septo-optic dysplasia

A rare birth defect where a thin membrane in the middle of the brain is missing. This brain abnormality is never present on it's own but is a characteristic of septo-optic dysplasia where the patient also has optic disk abnormalities and pituitary deficiencies.

Source: http://www.rightdiagnosis.com

Absence of septum pellucidum and septo-optic dysplasia is a collection of genetic birth defects linked to mutations in the HESX1, OTX2, and SOX2 genes.

Source: http://www.rightdiagnosis.com

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