Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal peripheral nerve transmission
Very frequent (80-99%)HP:0003134
Developmental regression
Very frequent (80-99%)HP:0002376
Enlarged liver
Very frequent (80-99%)HP:0002240
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Impaired vision
Very frequent (80-99%)HP:0000505
Large spleen
Very frequent (80-99%)HP:0001744
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Rapid neurologic deterioration
Very frequent (80-99%)HP:0007307
Abnormality of RPE
Frequent (30-79%)HP:0007703
Broad bone of big toe
Frequent (30-79%)HP:0010059
Cataract
Frequent (30-79%)HP:0000518
Coarse hair texture
Frequent (30-79%)HP:0002208
Concave bridge of nose
Frequent (30-79%)HP:0005280
Decreased body height
Frequent (30-79%)HP:0004322
Flat philtrum
Frequent (30-79%)HP:0000319
Large head
Frequent (30-79%)HP:0000256
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Nostrils anteverted
Frequent (30-79%)HP:0000463
Optic atrophy
Frequent (30-79%)HP:0000648
Scarring or clouding of the cornea of the eye
Frequent (30-79%)HP:0007957
Seizures
Frequent (30-79%)HP:0001250
Sensorineural deafness
Frequent (30-79%)HP:0000407
Stiff joint
Frequent (30-79%)HP:0001387
Thick eyebrow
Frequent (30-79%)HP:0000574
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Decreased size of cranium
Occasional (5-29%)HP:0000252
Abnormality of the periventricular white matter
HP:0002518
Ataxia
HP:0001251
Broad big toe
HP:0010055
Broad thumbs
HP:0011304
Quick Facts
- SNOMED CT
- 54898003
- UMLS CUI
- C0268263
- Fully Specified Name
- Multiple sulfatase 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.