PSPH deficiency
ORPHA: 79350
Overview
serine deficiency that has material basis in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with PSPH deficiency, sourced from HPO and Orphanet clinical annotations.
Global developmental delayModerate intellectual disabilityPostnatal growth retardationFeeding difficultiesHyposerinemiaHypospadiasWide mouthMicrocephalyFull cheeksBroad foreheadNarrow foreheadMicrognathiaHypertoniaAbnormal facial shapeGastroesophageal refluxBilateral tonic-clonic seizurePalpebral edemaEsophagitis
Classification & Codes
Orphanet Code
ORPHA:79350PSPH deficiency
| Orphanet | ORPHA:79350 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO