Phosphoserine aminotransferase deficiency, infantile/juvenile form

Orpha code: 284417OMIM code: 610992

Definition

A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.

Disease data
Classification

Etiological subtype

Synonyms
PSAT deficiency, infantile/juvenile form
Niedobór PSAT
ORPHA code
284417
OMIM code
610992
ICD10 code
E72.8
ICD11 code
-

No additional description.

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