Overview
Distal monosomy 1q 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 body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Epilepsy
Very frequent (80-99%)HP:0001250
Flat philtrum
Very frequent (80-99%)HP:0000319
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Low-set ears
Very frequent (80-99%)HP:0000369
Mental-retardation
Very frequent (80-99%)HP:0001249
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Protruding forehead
Very frequent (80-99%)HP:0011220
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Round facies
Very frequent (80-99%)HP:0000311
Related Conditions
Quick Facts
- SNOMED CT
- 717633007
- UMLS CUI
- C4273897
- Fully Specified Name
- Distal monosomy 1q 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.