Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of cholesterol metabolism
Always present (100%)HP:0003107
Cognitive delay
Always present (100%)HP:0001263
Decreased body height
Always present (100%)HP:0004322
Elevated circulating desmosterol concentration
Always present (100%)HP:0034937
Hypoplastic or absent corpus callosum
Always present (100%)HP:0007370
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Absence of the septum pellucidum
Very frequent (80-99%)HP:0001331
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Distal arthrogryposis
Very frequent (80-99%)HP:0005684
Feeding difficulties
Very frequent (80-99%)HP:0011968
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Muscle rigidity
Very frequent (80-99%)HP:0002063
Muscle stiffness
Very frequent (80-99%)HP:0003552
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Reduced cerebral white matter volume
Very frequent (80-99%)HP:0034295
Retrognathia
Very frequent (80-99%)HP:0000278
Short stature, severe
Very frequent (80-99%)HP:0003510
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Submucous cleft hard palate
Very frequent (80-99%)HP:0000176
Undergrowth
Very frequent (80-99%)HP:0001508
Uvula bifida
Very frequent (80-99%)HP:0000193
Very poor growth
Very frequent (80-99%)HP:0001510
Abnormal earlobe morphology
Frequent (30-79%)HP:0000363
Ambiguous genitalia due to virilization
Frequent (30-79%)HP:0000061
Ambiguous genitalia in males
Frequent (30-79%)HP:0000033
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Capuchin ears
Frequent (30-79%)HP:0000378
Quick Facts
- SNOMED CT
- 709490002
- UMLS CUI
- C1865596
- Fully Specified Name
- Desmosterolosis (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.