PSAT deficiency
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0018162
neurometabolic disorder due to serine deficiency
is_a
PSAT deficiency
exact
PSATD
related
phosphoserine aminotransferase deficiency
exact
SPAC1F12.07