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Schwartz-Jampel syndrome type 1 | RareConnect | RareConnect.io

/Schwartz-Jampel syndrome

/Schwartz-Jampel syndrome type 1

Schwartz-Jampel syndrome type 1

Rare Disease

MONDO:0100435

Also Known As

SJA syndromeSJS1Schwartz-Jampel syndrome type 1Chondrodystrophic myotoniaSchwartz-Jampel syndrome 1Schwartz-Jampel syndrome, type 1

Patient-Friendly Information

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:255800 ↗

Related Diseases

Stüve-Wiedemann syndrome 1

MONDO:0800043

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