/RAB23-related Carpenter syndrome

RAB23-related Carpenter syndrome

Rare Disease

MONDO:0008710

Also Known As

ACPS 2Carpenter syndromeacrocephalopolysyndactyly type 2Carpenter syndrome 1Carpenter syndrome caused by mutation in RAB23Carpenter syndrome type 1RAB23 Carpenter syndromeRAB23-related Carpenter syndromeCARPENTER syndrome 1CRPT1

Definition

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.

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Associated Genes

RAB23 ↗

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

External Resources

OMIM

OMIM:201000 ↗

GARD

GARD:15128 ↗

Related Diseases

MEGF8-related Carpenter syndrome

MONDO:0013998

Rare

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