Thoracolumbosacral spina bifida cystica with hydrocephalus (Q64718): Difference between revisions

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Latest revision as of 12:25, 14 August 2026

A condition caused by failure of the neural tube to correctly develop during the antenatal period. This condition is characterised by nerve damage and hydrocephalus. This condition may also present with syringomyelia, hip dislocation, headache, nausea, vomiting, blurry vision, balance problems, bladder control problems, or mental impairment. This disease may be associated with mutations in the FUZ gene.

Language	Label	Description	Also known as
default for all languages	ID_239087239
English	Thoracolumbosacral spina bifida cystica with hydrocephalus	A condition caused by failure of the neural tube to correctly develop during the antenatal period. This condition is characterised by nerve damage and hydrocephalus. This condition may also present with syringomyelia, hip dislocation, headache, nausea, vomiting, blurry vision, balance problems, bladder control problems, or mental impairment. This disease may be associated with mutations in the FUZ gene.