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neurometabolic disorder due to serine deficiency

Disease Summary
Associated Targets (4)
Tbio

3

Tchem

1


Mondo Description Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
Mondo Term and Equivalent IDs
MONDO:0018162:  neurometabolic disorder due to serine deficiency
Orphanet:35705: 
UMLS:CN227274: