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sepiapterin reductase deficiency

MeSH: C562657ORPHA: 70594

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 sepiapterin reductase deficiency, sourced from HPO and Orphanet clinical annotations.

Hypomimic faceAbnormality of the nosePtosisAtypical behaviorDelayed speech and language developmentHyperhidrosisIntellectual disabilityMotor delayMuscle weaknessDystoniaTremorHyperreflexiaRigidityBradykinesiaDrowsinessSleep disturbanceLimb hypertoniaTemperature instabilityAxial hypotoniaOculogyric crisisCognitive impairmentMicrocephalySeizureGrowth delaySmall for gestational ageCerebral palsy

Classification & Codes

MeSH Code

C562657

Orphanet Code

ORPHA:70594
sepiapterin reductase deficiency
MeSHC562657
OrphanetORPHA:70594
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO