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
Delayed language development
Very frequent (80-99%)HP:0000750
Epilepsy
Very frequent (80-99%)HP:0001250
Mental deficiency
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Aganglionic megacolon
Frequent (30-79%)HP:0002251
Ataxia
Frequent (30-79%)HP:0001251
Athetoid movements
Frequent (30-79%)HP:0002305
Autism spectrum disorder
Frequent (30-79%)HP:0000729
Cachexia
Frequent (30-79%)HP:0004326
Choreatic disease
Frequent (30-79%)HP:0002072
Constipation
Frequent (30-79%)HP:0002019
Decreased body height
Frequent (30-79%)HP:0004322
hyperkinetic disorder
Frequent (30-79%)HP:0000752
Hypotrophic malar bone
Frequent (30-79%)HP:0000272
Ileus
Frequent (30-79%)HP:0002595
Long Q-T syndrome
Frequent (30-79%)HP:0001657
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Self-mutilation
Frequent (30-79%)HP:0000742
Slack jawed appearance
Frequent (30-79%)HP:0000194
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Speech dyspraxia
Frequent (30-79%)HP:0011098
Truncal hypotonia
Frequent (30-79%)HP:0008936
Wide based walk
Frequent (30-79%)HP:0002136
Decreased size of cranium
Occasional (5-29%)HP:0000252
Ligamentous laxity
Occasional (5-29%)HP:0001382
Loose redundant skin
Occasional (5-29%)HP:0001582
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.