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Features include always present findings: Delayed speech and language development and Global developmental delay; and very common findings: Low muscle tone (hypotonia), Delayed ability to walk, Feeding difficulties, and Areflexia and others. 64 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 11 | Poor speech, Gait ataxia, Unsteady gait |
Phenotype severity distribution: 2 always present features, 7 very common features, 24 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for PMP22-RAI1 contiguous gene duplication syndrome.
1 publication has been identified in PubMed for PMP22-RAI1 contiguous gene duplication syndrome. Research spans Case Report / Case Series (100%).
Lee AJ (2025). [PMID: 40140366](https://pubmed.ncbi.nlm.nih.gov/40140366/). *Hum Genome Var*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about PMP22-RAI1 contiguous gene duplication syndrome
Heart and blood vessels |
6 |
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve |
Head and neck | 4 | Thin upper lip vermilion, High palate, Triangular face |
Arms and legs | 4 | Clinodactyly of the 5th finger, Abnormal foot morphology, Foot dorsiflexor weakness |
Muscles | 3 | Low muscle tone (hypotonia), Distal muscle weakness, Foot dorsiflexor weakness |
Digestive system | 3 | Chronic constipation, Feeding difficulties, Feeding difficulties in infancy |
Growth and development | 2 | Failure to thrive, Failure to thrive in infancy |
Eyes | 1 | Strabismus |
Ears | 1 | Hearing loss (hearing impairment) |
Bones and joints | 1 | Joint hypermobility |
Lungs and breathing | 1 | Sleep apnea |
Kidneys and urinary system | 1 | Abnormal renal morphology |
Age of onset: infancy.