Overview
Craniotelencephalic dysplasia 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.
Craniosyostosis
Very frequent (80-99%)HP:0001363
Frontal protuberance
Very frequent (80-99%)HP:0002007
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormally small eyeball
Frequent (30-79%)HP:0000568
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Arrhinencephaly
Frequent (30-79%)HP:0002139
De Morsier syndrome
Frequent (30-79%)HP:0100842
Decreased size of cranium
Frequent (30-79%)HP:0000252
Fewer or absent grooves in brain
Frequent (30-79%)HP:0001339
Frontoethmoidal encephalocele
Frequent (30-79%)HP:0007330
Impaired vision
Frequent (30-79%)HP:0000505
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Optic atrophy
Frequent (30-79%)HP:0000648
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Small cerebellum
Frequent (30-79%)HP:0001321
Related Conditions
Quick Facts
- SNOMED CT
- 715422002
- UMLS CUI
- C1857471
- Fully Specified Name
- Craniotelencephalic dysplasia (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.