Yuan-Harel-Lupski Syndrome (YUHAL)
Alias:
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
17p11.2p12 Microduplication Syndrome
Trisomy 17p11.2-P12
Trisomy 17p11.2p12
Dup(17)(p11.2p12)
Yuhal Syndrome
Yuhal
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Yuan-Harel-Lupski Syndrome, also known as pmp22-rai1 contiguous gene duplication syndrome, is related to charcot-marie-tooth disease, demyelinating, type 1a and autism. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include spinal cord and heart, and related phenotypes are global developmental delay and delayed speech and language development
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
AD
Infant
<1/1000000
1
5
5
Medical Symptom
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Description
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No data available
Gene & Mutation
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MGI
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References Literature
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No Data Found!
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Comparison
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