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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02116 | Phosphoserine phosphatase deficiency | Phosphoserine phosphatase deficiency (PSPHD) has been reported in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome ... | Inherited metabolic disorder | PSPH [HSA:5723] [KO:K01079] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |