chromosome 6q11-q14 deletion syndrome
MONDO:0013299Mondo
Findings
No curated finding names chromosome 6q11-q14 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- High palateHPOHP:0000218
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 4 reported patients
- Long philtrumHPOHP:0000343
- 4 of 4 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- Primary microcephalyHPOHP:0011451
- 1 of 1 reported patient
Show the remaining 12
- Prominent nasal bridgeHPOHP:0000426
- 2 of 2 reported patients
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Smooth philtrumHPOHP:0000319
- 5 of 5 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 5 of 5 reported patients
- Sacral dimpleHPOHP:0000960
- 2 of 4 reported patients
- Umbilical herniaHPOHP:0001537
- 2 of 5 reported patients
Where it sits
Other names
1 name
Resolves to: chromosome 6q11-q14 deletion syndrome
- Also called
- chromosome 6q11-q14 deletion syndrome, isolated cases