PSAT1, phosphoserine aminotransferase 1, 29968

N. diseases: 285; N. variants: 9
Disease: Congenital microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.110 Biomarker disease BEFREE We report on two new cases of serine deficiency due respectively to 3-phosphoglycerate dehydrogenase (PHGDH) deficiency (Patient 1) and phosphoserine aminotransferase (PSAT1) deficiency (Patient 2), presenting with congenital microcephaly (<3rd centile at birth) and encephalopathy with spasticity. 26610677 2016
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.110 Biomarker disease HPO