PSPH deficiency
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0018162
neurometabolic disorder due to serine deficiency
is_a
PSPH deficiency
exact
PSPHD
exact
phosphoserine phosphatase deficiency
exact
SPBC3H7.07c