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creatine transporter deficiency

MeSH: C535598ORPHA: 52503

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 creatine transporter deficiency, sourced from HPO and Orphanet clinical annotations.

Open mouthMicrocephalyMalar flatteningMask-like faciesPtosisAutistic behaviorSelf-mutilationDelayed speech and language developmentIntellectual disabilitySeizureAtaxiaHypotoniaGlobal developmental delayHypertoniaDystoniaConstipationChoreaHyperactivityRedundant skinAganglionic megacolonAthetosisIleusShort statureCachexiaAbnormal circulating creatine concentrationJoint hypermobility

Classification & Codes

MeSH Code

C535598

Orphanet Code

ORPHA:52503
creatine transporter deficiency
MeSHC535598
OrphanetORPHA:52503
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO