Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Extensor plantar responses
Very frequent (80-99%)HP:0003487
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Muscle weakness
Very frequent (80-99%)HP:0001324
Spastic walk
Very frequent (80-99%)HP:0002064
Anal incontinence
Frequent (30-79%)HP:0002607
Extrapyramidal syndrome
Frequent (30-79%)HP:0002071
Loss of ambulation
Frequent (30-79%)HP:0002505
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Optic atrophy
Frequent (30-79%)HP:0000648
Spastic/hyperactive bladder
Frequent (30-79%)HP:0005340
Ataxia
Occasional (5-29%)HP:0001251
Blood clot in artery of lung
Occasional (5-29%)HP:0002204
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Mental retardation, mild
Occasional (5-29%)HP:0001256
respiratory infections, recurrent
Occasional (5-29%)HP:0002205
Sensory neuropathy
Occasional (5-29%)HP:0000763
Cerebellar signs
HP:0001317
Degeneration of the lateral corticospinal tracts
HP:0002314
Dysmetria
HP:0001310
Flexion contractures
HP:0001371
Lower limb muscle weakness
HP:0007340
Muscle atrophy, neurogenic
HP:0003202
Pes cavus
HP:0001761
Spastic paraplegia
HP:0001258
Spasticity of lower limb
HP:0002061
Spinocerebellar tract degeneration
HP:0002503
Quick Facts
- SNOMED CT
- 723622007
- UMLS CUI
- C0751604
- Fully Specified Name
- X-linked spastic paraplegia type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.