Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed ability to walk
Always present (100%)HP:0031936
Nonverbal
Always present (100%)HP:0001344
Poor school performance
Always present (100%)HP:0001249
Cognitive deficits
Very frequent (80-99%)HP:0100543
Cognitive delay
Very frequent (80-99%)HP:0001263
Reduced tissue arginine:glycine amidinotransferase activity
Very frequent (80-99%)HP:6000572
Decreased CSF creatinine concentration
Frequent (30-79%)HP:0034597
Decreased serum creatinine
Frequent (30-79%)HP:0012101
Decreased urinary creatine level
Frequent (30-79%)HP:6000748
Decreased urine creatinine level
Frequent (30-79%)HP:6000115
Decreased urine guanidinoacetic acid level
Frequent (30-79%)HP:0034888
Muscle weakness
Frequent (30-79%)HP:0001324
Myopathy
Frequent (30-79%)HP:0003198
Reduced brain creatine level by MRS
Frequent (30-79%)HP:0025051
Reduced circulating creatine concentration
Frequent (30-79%)HP:0034292
Simple febrile seizures
Frequent (30-79%)HP:0011171
Behavioral changes
Occasional (5-29%)HP:0000708
Gait disturbance
Occasional (5-29%)HP:0001288
Muscular hypotonia
Occasional (5-29%)HP:0001252
Positive Gower sign
Occasional (5-29%)HP:0003391
Seizures
Occasional (5-29%)HP:0001250
Abnormal circulating creatinine concentration
Excluded (<1%)HP:0012100
Autism
HP:0000717
Organic aciduria
HP:0001992
Poor weight gain
HP:0001508
Speech and language difficulties
HP:0000750
Quick Facts
- SNOMED CT
- 702440000
- UMLS CUI
- C2675179
- Fully Specified Name
- Cerebral creatine deficiency syndrome 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.