3-phosphoserine phosphatase deficiency, infantile/juvenile form

Orpha code: 79350OMIM code: 614023

Definition

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Disease data
Classification

Etiological subtype

Synonyms
PSPH deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
ORPHA code
79350
OMIM code
614023
ICD10 code
E72.8
ICD11 code
-

No additional description.

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