Overview
3q23 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.
Blepharophimosis
Very frequent (80-99%)HP:0000581
Epicanthus inversus
Very frequent (80-99%)HP:0000537
Eye drop
Very frequent (80-99%)HP:0000508
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Abnormal lacrimal duct morphology
Frequent (30-79%)HP:0011481
Abnormality of refraction
Frequent (30-79%)HP:0000539
Decreased height of philtrum
Frequent (30-79%)HP:0000322
Decreased tear secretion
Frequent (30-79%)HP:0000633
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Lacrimal gland aplasia
Frequent (30-79%)HP:0007656
Low-set ears
Frequent (30-79%)HP:0000369
Wandering eye
Frequent (30-79%)HP:0000646
Decreased fertility
Occasional (5-29%)HP:0000144
Decreased serum estradiol
Occasional (5-29%)HP:0008214
Decreased serum progesterone
Occasional (5-29%)HP:0008233
Ectopic lacrimal punctum
Occasional (5-29%)HP:0010748
Elevated circulating follicle stimulating hormone level
Occasional (5-29%)HP:0008232
Elevated circulating luteinizing hormone level
Occasional (5-29%)HP:0011969
Everted eyelid
Occasional (5-29%)HP:0000656
Female infertility
Occasional (5-29%)HP:0008222
Hypoplastic lacrimal gland
Occasional (5-29%)HP:0007732
Light or infrequent menstrual periods
Occasional (5-29%)HP:0000876
Polycystic ovary disease
Occasional (5-29%)HP:0000147
Premature menopause
Occasional (5-29%)HP:0008209
Previous menstrual periods stop
Occasional (5-29%)HP:0000869
Primary hypogonadism
Occasional (5-29%)HP:0000815
S-shaped eyes
Occasional (5-29%)HP:0007835
Squint
Occasional (5-29%)HP:0000486
Stenosis of the lacrimal punctum
Occasional (5-29%)HP:0025572
Streak ovary
Occasional (5-29%)HP:0010464
Quick Facts
- SNOMED CT
- 890180006
- UMLS CUI
- C5437588
- Fully Specified Name
- Blepharophimosis epicanthus inversus ptosis syndrome plus (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.