Overview
CAMOS syndrome 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.
Ataxia
Very frequent (80-99%)HP:0001251
Cerebellar hypoplasia/atrophy
Very frequent (80-99%)HP:0007360
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dermatopathy
Very frequent (80-99%)HP:0000951
Mental-retardation
Very frequent (80-99%)HP:0001249
No development of motor milestones
Very frequent (80-99%)HP:0001270
Optic atrophy
Very frequent (80-99%)HP:0000648
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Progressive extrapyramidal movement disorder
Very frequent (80-99%)HP:0007153
Brain degeneration
Frequent (30-79%)HP:0012444
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Epilepsy
Frequent (30-79%)HP:0001250
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Nephrosis
Frequent (30-79%)HP:0000100
Renal insufficiency
Frequent (30-79%)HP:0000083
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Early onset cerebellar ataxia(parent)
Inherited optic neuropathy(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Cutaneous vascular malformation(parent)
Congenital atrophy of optic nerve(parent)
Hereditary ataxia(parent)
Congenital anomaly of optic nerve(parent)
Hereditary degenerative disease of central nervous system(parent)
Congenital degeneration of nervous system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 726031001
- UMLS CUI
- C4511633
- Fully Specified Name
- Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.