brachycephaly, trichomegaly, and developmental delay
BTDD
related
brachycephaly, trichomegaly, and developmental delay
exact
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
SPBP4H10.13 SPAC23C11.02c