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Epilepsy, microcephaly, skeletal dysplasia syndrome
disorderSNOMED 733031004CUI C2931579
Overview
Epilepsy, microcephaly, skeletal dysplasia 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.
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Epilepsy
Very frequent (80-99%)HP:0001250
Hirsutism
Very frequent (80-99%)HP:0001007
Mental deficiency
Very frequent (80-99%)HP:0001249
Scoliosis
Very frequent (80-99%)HP:0002650
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Related Conditions
Multiple malformation syndrome with facial defects as major feature(parent)
Epilepsy(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of nervous system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 733031004
- UMLS CUI
- C2931579
- Fully Specified Name
- Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 7
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.