Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Very frequent (80-99%)HP:0001538
Abnormal atrioventricular valve physiology
Very frequent (80-99%)HP:0031650
Abnormality of cardiovascular system morphology
Very frequent (80-99%)HP:0030680
Decreased body height
Very frequent (80-99%)HP:0004322
Diffusely thickened skin
Very frequent (80-99%)HP:0001072
Expressive language delay
Very frequent (80-99%)HP:0002474
Growth delay as children
Very frequent (80-99%)HP:0008897
Gum enlargement
Very frequent (80-99%)HP:0000212
Husky voice
Very frequent (80-99%)HP:0001609
No development of motor milestones
Very frequent (80-99%)HP:0001270
Restricted chest movement
Very frequent (80-99%)HP:0006596
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Umbilical hernia
Very frequent (80-99%)HP:0001537
Abnormal mitral valve morphology
Frequent (30-79%)HP:0001633
Abnormality of the thoracic cavity
Frequent (30-79%)HP:0045027
Cognitive deficits
Frequent (30-79%)HP:0100543
Coxa valga deformity
Frequent (30-79%)HP:0002673
Deformity of the skull
Frequent (30-79%)HP:0001363
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Flat facial shape
Frequent (30-79%)HP:0012368
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Inability to walk
Frequent (30-79%)HP:0002540
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Low chest circumference
Frequent (30-79%)HP:0000774
Mitral regurgitation
Frequent (30-79%)HP:0001653
Obstructive sleep apnea
Frequent (30-79%)HP:0002870
Otitis media
Frequent (30-79%)HP:0000388
Poor speech
Frequent (30-79%)HP:0002465
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Puolmonary valve insufficiency
Frequent (30-79%)HP:0010444
Related Conditions
Pseudo-Hurler polydystrophy(child)
Recessive hereditary disorder (autosomal)(parent)
Mucolipidosis(parent)
Disorder of glycoprotein metabolism(parent)
Lipid storage disease(parent)
Dysostosis multiplex group(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 70199000
- UMLS CUI
- C0020725
- Fully Specified Name
- I-cell disease (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.