3-phosphoglycerate dehydrogenase deficiency (Q85499)
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3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_460538363 |
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| English | 3-phosphoglycerate dehydrogenase deficiency |
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterised clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioural disorders in the juvenile form |
