What is the SPATA5 gene defect?
The SPATA5 gene defect is a rare genetic disorder caused by mutations in the SPATA5 gene. Affected children usually show severe developmental delays, hypotonic musculature (low muscle tone), epilepsy, speech and movement disorders and sometimes additional problems such as hearing loss.
Aids that are frequently used for the SPATA5 gene defect:
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You can find more helpful information about CDKL5 here:
www.cdkl5-verein.de