Overview
1q44 microdeletion 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.
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Central hypotonia
Very frequent (80-99%)HP:0001252
Cupid-bow shaped upper lip
Very frequent (80-99%)HP:0002263
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Generalized tonic-clonic seizure (without specification of onset)
Very frequent (80-99%)HP:0002069
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Speech delay
Very frequent (80-99%)HP:0000750
Decreased body height
Frequent (30-79%)HP:0004322
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Flat philtrum
Frequent (30-79%)HP:0000319
Heart septal defect
Frequent (30-79%)HP:0001671
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Mongoloid slant
Frequent (30-79%)HP:0000582
Palpebronasal fold
Frequent (30-79%)HP:0000286
Squint
Frequent (30-79%)HP:0000486
Very poor growth
Frequent (30-79%)HP:0001510
Biparietal narrowing
Occasional (5-29%)HP:0004422
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Frontal protuberance
Occasional (5-29%)HP:0002007
High arched palate
Occasional (5-29%)HP:0000218
High forehead
Occasional (5-29%)HP:0000348
Horseshoe kidney
Occasional (5-29%)HP:0000085
Hypoplastic optic discs
Occasional (5-29%)HP:0007766
Intestinal malrotation
Occasional (5-29%)HP:0002566
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Prominent frontal suture
Occasional (5-29%)HP:0005487
Related Conditions
Quick Facts
- SNOMED CT
- 719649004
- UMLS CUI
- C4304540
- Fully Specified Name
- 1q44 microdeletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.