Overview
Deficiency of cerebroside-sulfatase 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.
Abnormality of the cerebral white matter
HP:0002500
Ataxia
HP:0001251
Bulbar palsies
HP:0001283
Choreiform movements
HP:0002072
Decreased nerve conduction velocity
HP:0000762
Delusions
HP:0000746
Difficulty articulating speech
HP:0001260
Dystonic disease
HP:0001332
Elevated csf protein
HP:0002922
EMG: neuropathic changes
HP:0003445
Emotional lability
HP:0000712
Extensor plantar responses
HP:0003487
Gait disturbance
HP:0001288
Gallbladder dysfunction
HP:0005609
Gallbladder inflammation
HP:0001082
Generalised decreased muscle tone
HP:0001290
Hallucinations
HP:0000738
Hyporeflexia
HP:0001265
Impaired cerebroside sulfate hydrolysis
HP:0034687
Increased reflexes
HP:0001347
Intellectual deterioration
HP:0001268
Loss of speech
HP:0002371
Low intelligence
HP:0001249
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
Seizures
HP:0001250
Quick Facts
- SNOMED CT
- 66521008
- UMLS CUI
- C2713319
- Fully Specified Name
- Deficiency of cerebroside-sulfatase (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.