Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Choreoathetoid movements
Always present (100%)HP:0001266
Decreased urinary biopterin level
Always present (100%)HP:0040417
Decreased urinary neopterin level
Always present (100%)HP:0040420
Dystonic disease
Always present (100%)HP:0001332
Epilepsy
Always present (100%)HP:0001250
Feeding difficulties
Always present (100%)HP:0011968
Generalised decreased muscle tone
Always present (100%)HP:0001290
Hyperphenylalaninemia
Always present (100%)HP:0004923
Increased CSF phenylalanine concentration
Always present (100%)HP:0500223
Mental and motor retardation
Always present (100%)HP:0001263
Peripheral hypotonia
Always present (100%)HP:0001252
Poor sucking
Always present (100%)HP:0002033
Tremor
Always present (100%)HP:0001337
Appendicular hypertonia
HP:0002509
Deglutition disorder
HP:0002015
Elevated urinary sulfatide level
HP:6000120
Excessive salivation
HP:0003781
Eye movement issue
HP:0000496
Hyperkinetic movements
HP:0002487
Inactivity
HP:0001254
Intermittent fever
HP:0001954
Irritability
HP:0000737
Muscle rigidity
HP:0002063
Nonprogressive mental retardation
HP:0001249
Severe muscular hypotonia
HP:0006829
Worsening neurological symptoms
HP:0002344
Related Conditions
Quick Facts
- SNOMED CT
- 23447005
- UMLS CUI
- C0268467
- Fully Specified Name
- Guanosine triphosphate cyclohydrolase I deficiency (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.