/Roifman syndrome

Roifman syndrome

Rare Disease

MONDO:0014722

Also Known As

RFMNRoifman syndromespondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiencyspondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndromespondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

RNU4ATAC ↗

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

External Resources

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MONDO:0003393

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Roifman syndrome

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases