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GTR Home > Conditions/Phenotypes > Brachydactyly type A1

Summary

A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Available tests

20 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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