Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary gamma-glutamylphenylalanine level
Always present (100%)HP:6000281
Increased level of N-benzoylglycine in urine
Always present (100%)HP:0410066
Abnormal deposits of calcium in the brain
HP:0002514
Anxiety disease
HP:0000739
Blue irides
HP:0000635
Cataract
HP:0000518
Childhood attention deficit/hyperactivity disorder
HP:0007018
Decreased size of cranium
HP:0000252
Depressive episode
HP:0000716
Dry skin
HP:0000958
Eczema
HP:0000964
Epilepsy
HP:0001250
Fair skin
HP:0007513
Hyperactive behaviour
HP:0000752
Hyperphenylalaninemia
HP:0004923
Increased reflexes
HP:0001347
Irritability
HP:0000737
Nonprogressive mental retardation
HP:0001249
OCD
HP:0000722
Phenylalanine hydroxylase deficiency
HP:0005982
Phenylpyruvic acid high in urine
HP:0034458
Phenylpyruvic acidemia
HP:0004920
physical aggression
HP:0000718
Psychosis
HP:0000709
Scleroderma
HP:0100324
Self-mutilation
HP:0000742
Towhead (hair color)
HP:0002286
Quick Facts
- SNOMED CT
- 7573000
- UMLS CUI
- C0751434
- Fully Specified Name
- Classical phenylketonuria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.