chromosome 17q23.1-q23.2 deletion syndrome
MONDO:0013238Mondo
Findings
No curated finding names chromosome 17q23.1-q23.2 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0013238), read 2026-09-29. CC BY 4.0.
- Inheritance
- Contiguous gene syndrome · Sporadic
HPO, annotations 2026-09-02
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Long fingersHPOHP:0100807
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Long toeHPOHP:0010511
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Slender fingerHPOHP:0001238
- 6 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Mild global developmental delayHPOHP:0011342
- Very frequent (80% to 99% of cases)
Show the remaining 46
- Patent ductus arteriosusHPOHP:0001643
- 3 of 7 reported patients
- Frequent (30% to 79% of cases)
- Pulmonary arterial hypertensionHPOHP:0002092
- 3 of 7 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 1 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
Where it sits
Other names
5 names
Resolves to: chromosome 17q23.1-q23.2 deletion syndrome
- Also called
- 17q23.1q23.2 microdeletion syndromechromosome 17q23.1-q23.2 deletion syndrome, isolated casesDel(17)(q23.1q23.2)monosomy 17q23.1-q23.2monosomy 17q23.1q23.2