Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
MONDO:0018216Mondo
Findings
No curated finding names Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
5 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.
- Feeding difficulties in infancyHPOHP:0008872
- HypotoniaHPOHP:0001252
- Intellectual disabilityHPOHP:0001249
- Long faceHPOHP:0000276
- Small for gestational ageHPOHP:0001518
Where it sits
Other names
3 names
Resolves to: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome
- Also called
- 17q21.31 recurrent microdeletion syndromeDel(17)(q21.31)monosomy 17q21.31