Brachycephaly, trichomegaly, and developmental delay
Brachycephaly, trichomegaly, and developmental delay
Definition
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 — per MONDO