Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Central hypotonia
Always present (100%)HP:0001252
Delay in head control
Always present (100%)HP:0002421
Poor school performance
Always present (100%)HP:0001249
Psychomotor development deficiency
Always present (100%)HP:0001263
Abnormality of movement
Very frequent (80-99%)HP:0100022
Autoagression
Very frequent (80-99%)HP:0100716
Behavioral changes
Very frequent (80-99%)HP:0000708
Gout
Very frequent (80-99%)HP:0001997
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Moderate mental retardation
Very frequent (80-99%)HP:0002342
Paralysis or weakness of one side of body
Very frequent (80-99%)HP:0004374
Blood in urine
Frequent (30-79%)HP:0000790
Increased calcium level in kidney
Frequent (30-79%)HP:0000121
Low number of red blood cells or hemoglobin
Frequent (30-79%)HP:0001903
Renal failure in adulthood
Frequent (30-79%)HP:0000083
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Seizures
Occasional (5-29%)HP:0001250
Arc de cercle
HP:0002179
Choreoathetoid movements
HP:0001266
Decreased body height
HP:0004322
Deglutition disorder
HP:0002015
Difficulty articulating speech
HP:0001260
Dystonic movements
HP:0001332
Extrapyramidal syndrome
HP:0002071
Gout of big toe
HP:0001854
High urine uric acid level
HP:0003149
Increased reflexes
HP:0001347
Kidney stones
HP:0000787
Quick Facts
- SNOMED CT
- 10406007
- UMLS CUI
- C0023374
- Fully Specified Name
- Lesch-Nyhan syndrome (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.