PMP22-RAI1 contiguous gene duplication syndrome
MONDO:0014723Mondo
Findings
No curated finding names PMP22-RAI1 contiguous gene duplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
64 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.
- Delayed speech and language developmentHPOHP:0000750
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- 12 of 13 reported patients
- HypotoniaHPOHP:0001252
- 15 of 17 reported patients · Infantile onset
- AreflexiaHPOHP:0001284
- 12 of 14 reported patients
- Delayed ability to walkHPOHP:0031936
- 11 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Demyelinating peripheral neuropathyHPOHP:0007108
- 9 of 12 reported patients
- Chronic constipationHPOHP:0012450
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 52
- Failure to thriveHPOHP:0001508
- 11 of 17 reported patients
- Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormal renal morphologyHPOHP:0012210
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
Where it sits
Other names
6 names
Resolves to: PMP22-RAI1 contiguous gene duplication syndrome
- Also called
- 17p11.2p12 microduplication syndromedup(17)(p11.2p12)trisomy 17p11.2-p12trisomy 17p11.2p12Yuan-Harel-Lupski syndromeYUHAL