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- HIDEA syndrome is a syndrome characterised by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. It is...3 KB (303 words) - 20:17, 17 May 2023
- Glutaminase deficiency is a rare genetic disorder that presents in childhood. It is associated with epilepsy and usually results in an early demise. This...3 KB (297 words) - 13:18, 7 May 2023