Brachycephaly, trichomegaly, and developmental delay

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).

Also known as: brachycephaly, trichomegaly, and developmental delay, BTDD, Macinnes syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Brachycephaly, trichomegaly, and developmental delay itself.