Overview
Sterol-C4-methyl oxidase deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Blepharitis
Always present (100%)HP:0000498
Cataract, congenital
Always present (100%)HP:0000519
Decreased body height
Always present (100%)HP:0004322
Decreased circulating cholesterol level
Always present (100%)HP:0003146
Decreased HDL cholesterol concentration
Always present (100%)HP:0003233
Decreased LDL cholesterol concentration
Always present (100%)HP:0003563
Decreased size of cranium
Always present (100%)HP:0000252
Elevated circulating dimethyl sterol concentration
Always present (100%)HP:6000754
Elevated circulating monomethyl sterol concentration
Always present (100%)HP:6000753
Ichthyosiform abnormality of the skin
Always present (100%)HP:0008064
Poor weight gain
Always present (100%)HP:0001508
Psoriasiform dermatitis
Always present (100%)HP:0003765
Psychomotor development deficiency
Always present (100%)HP:0001263
Retarded ossification
Always present (100%)HP:0002750
Arthritic pain
HP:0002829
Delayed puberty
HP:0000823
Elevated circulating methysterol concentration
HP:6001113
Mental retardation, mild
HP:0001256
Related Conditions
Disorder of cholesterol synthesis(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of the visual system(parent)
Inborn error of lipoprotein metabolism(parent)
Psoriasiform dermatitis(parent)
Congenital cataract(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 1172683008
- UMLS CUI
- C5567510
- Fully Specified Name
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.