Succinic Semialdehyde Dehydrogenase Deficiency

Preferred Label : Succinic Semialdehyde Dehydrogenase Deficiency;

NCIt synonyms : SSADHD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ALDH5A1 gene, encoding succinate-semialdehyde dehydrogenase, mitochondrial. It is characterized by intellectual disability, developmental delay, and hypotonia.;

Details

Origin ID

C206527;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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