Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the cerebral white matter
HP:0002500
Ataxia
HP:0001251
Bulbar muscle weakness
HP:0001283
Choreatic disease
HP:0002072
Decreased nerve conduction velocity
HP:0000762
Delusions
HP:0000746
Difficulty articulating speech
HP:0001260
Dull intelligence
HP:0001249
Dystonic disease
HP:0001332
Elevated csf protein
HP:0002922
EMG: neuropathic changes
HP:0003445
Emotional lability
HP:0000712
Epilepsy
HP:0001250
Extensor plantar responses
HP:0003487
Gait disturbance
HP:0001288
Gallbladder dysfunction
HP:0005609
Gallbladder inflammation
HP:0001082
Generalised decreased muscle tone
HP:0001290
Hyporeflexia
HP:0001265
Impaired cerebroside sulfate hydrolysis
HP:0034687
Increased reflexes
HP:0001347
Intellectual deterioration
HP:0001268
Loss of speech
HP:0002371
Muscular hypotonia
HP:0001252
Optic atrophy
HP:0000648
Peripheral demyelination
HP:0011096
Progressive polyneuropathy
HP:0007133
Quadriplegia
HP:0002445
Reduced leukocyte arylsulfatase A activity
HP:0034863
Sensory hallucination
HP:0000738
Related Conditions
Quick Facts
- SNOMED CT
- 238031009
- UMLS CUI
- C2713319
- Fully Specified Name
- Arylsulfatase A deficiency (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.