Overview
17q23.1q23.2 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.
Global developmental delay, mild
Very frequent (80-99%)HP:0011342
Increased length of toes
Very frequent (80-99%)HP:0010511
Long fingers
Very frequent (80-99%)HP:0100807
Psychomotor retardation, moderate
Very frequent (80-99%)HP:0011343
Speech and language difficulties
Very frequent (80-99%)HP:0000750
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Frontal protuberance
Frequent (30-79%)HP:0002007
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
PDA
Frequent (30-79%)HP:0001643
Primary pulmonary hypertension
Frequent (30-79%)HP:0002092
Anomaly of the epiphyses
Occasional (5-29%)HP:0005930
Atria septal defect
Occasional (5-29%)HP:0001631
Behavioral symptoms
Occasional (5-29%)HP:0000708
Bilateral single transverse palmar creases
Occasional (5-29%)HP:0007598
Blepharitis
Occasional (5-29%)HP:0000498
Central hypotonia
Occasional (5-29%)HP:0001252
Chronic middle ear infection
Occasional (5-29%)HP:0000389
Cleft nose
Occasional (5-29%)HP:0011803
Congenital joint contractures
Occasional (5-29%)HP:0002803
Coxa magna
Occasional (5-29%)HP:0003279
Depressed nasal root/bridge
Occasional (5-29%)HP:0005280
Dropped arches
Occasional (5-29%)HP:0001763
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
Hearing impairment
Occasional (5-29%)HP:0000365
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of eyelashes
Occasional (5-29%)HP:0000527
Increased reflexes
Occasional (5-29%)HP:0001347
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Narrow mouth
Occasional (5-29%)HP:0000160
Quick Facts
- SNOMED CT
- 719584008
- UMLS CUI
- C4304591
- Fully Specified Name
- 17q23.1q23.2 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.