← Back to Conditions
Autosomal recessive spastic paraplegia type 53
disorderSNOMED 723823004CUI C3539494
Overview
Autosomal recessive spastic paraplegia type 53 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased reflexes
Always present (100%)HP:0001347
Lower limb hypertonia
Always present (100%)HP:0006895
Clonus
Very frequent (80-99%)HP:0002169
Upper limb hyperreflexia
Very frequent (80-99%)HP:0007350
Delayed language development
Frequent (30-79%)HP:0000750
Hunched back
Frequent (30-79%)HP:0002808
Increased hair growth on body
Frequent (30-79%)HP:0000998
Joint instability
Frequent (30-79%)HP:0001382
Pectus carinatum
Frequent (30-79%)HP:0000768
Upper limb hypertonia
Frequent (30-79%)HP:0200049
Dystonic disease
Occasional (5-29%)HP:0001332
Hearing impairment
Occasional (5-29%)HP:0000365
Impaired vibratory sensation
Occasional (5-29%)HP:0002495
Limb dystonia
Occasional (5-29%)HP:0002451
Abnormality of the auditory canal
Very rare (1-4%)HP:0000372
Cortical dysplasia
Very rare (1-4%)HP:0002539
Decreased size of cranium
Very rare (1-4%)HP:0000252
Dilated cerebral ventricle
Very rare (1-4%)HP:0002119
Impaired proprioception
Very rare (1-4%)HP:0010831
Poor weight gain
Very rare (1-4%)HP:0001508
Cognitive deficits
HP:0100543
Gait disturbance
HP:0001288
Mental and motor retardation
HP:0001263
Spastic paraplegia
HP:0001258
Quick Facts
- SNOMED CT
- 723823004
- UMLS CUI
- C3539494
- Fully Specified Name
- Autosomal recessive spastic paraplegia type 53 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.