" /> 3-phosphoglycerate dehydrogenase deficiency - CISMeF





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;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :

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

Nous contacter.
09/07/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.