Overview
1q41q42 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.
Abnormality of the face
Very frequent (80-99%)HP:0000271
Congenital hypotonia
Very frequent (80-99%)HP:0001319
Decreased body height
Very frequent (80-99%)HP:0004322
Frontal protuberance
Very frequent (80-99%)HP:0002007
Global developmental delay, severe
Very frequent (80-99%)HP:0011344
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Seizures
Very frequent (80-99%)HP:0001250
Very poor growth
Very frequent (80-99%)HP:0001510
Behavioral symptoms
Frequent (30-79%)HP:0000708
Broad, upturned nose
Frequent (30-79%)HP:0000455
Central nervous system disease
Frequent (30-79%)HP:0002011
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Enophthalmos
Frequent (30-79%)HP:0000490
Fetal foot inversion
Frequent (30-79%)HP:0001762
Mongoloid slant
Frequent (30-79%)HP:0000582
Prominent lips
Frequent (30-79%)HP:0012471
Small nail
Frequent (30-79%)HP:0001792
Small nasal alae
Frequent (30-79%)HP:0000430
Abnormality iris morphology
Occasional (5-29%)HP:0000525
Cleft of palate
Occasional (5-29%)HP:0000175
Cryptorchidism
Occasional (5-29%)HP:0000028
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Genital abnormalities
Occasional (5-29%)HP:0000078
Ocular hypotelorism
Occasional (5-29%)HP:0000601
Pelger-Huet anomaly
Occasional (5-29%)HP:0011447
Poorly developed lungs
Occasional (5-29%)HP:0002089
Primary hypogonadism
Occasional (5-29%)HP:0000815
Single brain ventricle
Occasional (5-29%)HP:0001360
Squint
Occasional (5-29%)HP:0000486
Related Conditions
Quick Facts
- SNOMED CT
- 716515000
- UMLS CUI
- C4274528
- Fully Specified Name
- 1q41q42 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.