Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Big calvaria
Always present (100%)HP:0000256
Excessive face hair
Always present (100%)HP:0009937
Frontal protuberance
Always present (100%)HP:0002007
Heparan sulphate excretion in urine
Always present (100%)HP:0002159
Increased distance between eyes
Always present (100%)HP:0000316
Lingual hyperplasia
Always present (100%)HP:0000158
Mental and motor retardation
Always present (100%)HP:0001263
Speech delay
Always present (100%)HP:0000750
Trouble sleeping
Always present (100%)HP:0002360
Abnormal development of end part of bone
Frequent (30-79%)HP:0002656
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Achilles tendon contracture
Frequent (30-79%)HP:0001771
Aggression
Frequent (30-79%)HP:0000718
Agitation
Frequent (30-79%)HP:0000713
Brisk deep tendon reflexes
Frequent (30-79%)HP:0001348
Broad alveolar processes of jaw
Frequent (30-79%)HP:0000187
Broad palm
Frequent (30-79%)HP:0001169
Coarse face
Frequent (30-79%)HP:0000280
Concave bridge of nose
Frequent (30-79%)HP:0005280
Deafness
Frequent (30-79%)HP:0000365
Decreased body height
Frequent (30-79%)HP:0004322
Degeneration of cerebellum
Frequent (30-79%)HP:0001272
Deglutition disorder
Frequent (30-79%)HP:0002015
Difficulties with night vision
Frequent (30-79%)HP:0000662
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Enlarged liver
Frequent (30-79%)HP:0002240
Enophthalmos
Frequent (30-79%)HP:0000490
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Gait disturbance
Frequent (30-79%)HP:0001288
hyperkinetic disorder
Frequent (30-79%)HP:0000752
Related Conditions
Quick Facts
- SNOMED CT
- 15892005
- UMLS CUI
- C0086650
- Fully Specified Name
- Mucopolysaccharidosis III-D (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.