Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated circulating creatine concentration
Always present (100%)HP:0034291
Reduced brain creatine level by MRS
Always present (100%)HP:0025051
Abnormality of creatine metabolism
Very frequent (80-99%)HP:0012113
Cognitive delay
Very frequent (80-99%)HP:0001263
Mental-retardation
Very frequent (80-99%)HP:0001249
Seizures
Very frequent (80-99%)HP:0001250
Speech delay
Very frequent (80-99%)HP:0000750
Aganglionic megacolon
Frequent (30-79%)HP:0002251
Apraxia of speech
Frequent (30-79%)HP:0011098
ASD
Frequent (30-79%)HP:0000729
Ataxia
Frequent (30-79%)HP:0001251
Athetoid movements
Frequent (30-79%)HP:0002305
Cachexia
Frequent (30-79%)HP:0004326
Choreatic disease
Frequent (30-79%)HP:0002072
Decreased body height
Frequent (30-79%)HP:0004322
Dyschezia
Frequent (30-79%)HP:0002019
Hyperactive behaviour
Frequent (30-79%)HP:0000752
Hypertonia
Frequent (30-79%)HP:0001276
Ileus
Frequent (30-79%)HP:0002595
Long Q-T syndrome
Frequent (30-79%)HP:0001657
Muscular hypotonia
Frequent (30-79%)HP:0001252
Self-mutilation
Frequent (30-79%)HP:0000742
Slack jawed appearance
Frequent (30-79%)HP:0000194
Truncal hypotonia
Frequent (30-79%)HP:0008936
Undergrowth
Frequent (30-79%)HP:0001508
Wide based walk
Frequent (30-79%)HP:0002136
Zygomatic flattening
Frequent (30-79%)HP:0000272
Decreased size of cranium
Occasional (5-29%)HP:0000252
Loose redundant skin
Occasional (5-29%)HP:0001582
Loose-jointedness
Occasional (5-29%)HP:0001382
Quick Facts
- SNOMED CT
- 698290008
- UMLS CUI
- C1845862
- Fully Specified Name
- X-linked creatine deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.