neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
MONDO:0018131Mondo
Findings
No curated finding names neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
90 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.
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Long palpebral fissureHPOHP:0000637
- Very frequent (80% to 99% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- BruxismHPOHP:0003763
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Exaggerated median tongue furrowHPOHP:0002711
- Frequent (30% to 79% of cases)
- Gray matter heterotopiaHPOHP:0002282
- Frequent (30% to 79% of cases)
Show the remaining 78
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- Frequent (30% to 79% of cases)
- Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
- Increased nuchal translucencyHPOHP:0010880
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion
- Also called
- 9q21 microdeletion syndromeDel(9)(q21)