Preferred Label : 3-phosphoglycerate dehydrogenase deficiency;
ICD-11 definition : 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive
form of serine deficiency syndrome characterized 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 behavioral
disorders in the juvenile form;
Origin ID : 460538363;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Validated automatic mappings to BTNT
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive
form of serine deficiency syndrome characterized 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 behavioral
disorders in the juvenile form
