Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Angiokeratomas
Always present (100%)HP:0001014
Beaking of vertebral bodies
Always present (100%)HP:0004568
Brisk deep tendon reflexes
Always present (100%)HP:0001348
Bruising susceptibility
Always present (100%)HP:0000978
Bullet vertebral body
Always present (100%)HP:0003300
CNS hypomyelination
Always present (100%)HP:0003429
Concave bridge of nose
Always present (100%)HP:0005280
Decreased body height
Always present (100%)HP:0004322
Delayed gross motor development
Always present (100%)HP:0002194
Dystonic disease
Always present (100%)HP:0001332
Flexion contractures
Always present (100%)HP:0001371
Glycopeptiduria
Always present (100%)HP:0012067
Increased distance between eyes
Always present (100%)HP:0000316
Intellectual deterioration
Always present (100%)HP:0001268
Low intelligence
Always present (100%)HP:0001249
Low-set ears
Always present (100%)HP:0000369
Muscle atrophy, generalised
Always present (100%)HP:0003700
Muscle weakness
Always present (100%)HP:0001324
Paralysis on one side of body
Always present (100%)HP:0002301
Petechiae
Always present (100%)HP:0000967
Psychomotor regression in infants
Always present (100%)HP:0002376
Reduced circulating alpha-L-fucosidase activity
Always present (100%)HP:0034727
Scoliosis
Always present (100%)HP:0002650
Spastic walk
Always present (100%)HP:0002064
Anterior tongue-like protrusion of lumbar vertebral bodies
Very frequent (80-99%)HP:0008430
Atrophy of fat
Very frequent (80-99%)HP:0100578
Bulging forehead
Very frequent (80-99%)HP:0011220
Cognitive delay
Very frequent (80-99%)HP:0001263
Deformity of face
Very frequent (80-99%)HP:0001999
Dysostosis multiplex
Very frequent (80-99%)HP:0000943
Quick Facts
- SNOMED CT
- 64716005
- UMLS CUI
- C0016788
- Fully Specified Name
- Fucosidosis (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.