Overview
Curatolo Cilio Pessagno 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.
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Cerebral white matter hypoplasia
Very frequent (80-99%)HP:0012430
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased reflexes
Very frequent (80-99%)HP:0001347
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Mental deficiency
Very frequent (80-99%)HP:0001249
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Unibrow
Frequent (30-79%)HP:0000664
Thumb-in-palm pattern
Occasional (5-29%)HP:0001181
Quick Facts
- SNOMED CT
- 783703004
- UMLS CUI
- C2931292
- Fully Specified Name
- White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.