Hyperprolinaemia type 2 (Q56822)
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Hyperprolinaemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1574091524 |
||
| English | Hyperprolinaemia type 2 |
Hyperprolinaemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. |
Statements
CID11:ID_1574091524
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dki-india-ID_1574091524
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