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}).
MONDO:0003847
hereditary disease
is_a
BTDD
related
brachycephaly, trichomegaly, and developmental delay
exact
SPAC23C11.02c SPBP4H10.13