Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
brachydactyly type E1
MONDO:0007223
brachydactyly, type E, with atrial septal defect, type 2
MONDO:0007224