has material basis in germline mutation in RPS23 hereditary disease brachycephaly, trichomegaly, and developmental delay https://www.malacards.org/card/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}). MEDGEN:1374289 BTDD MONDO:0044311 UMLS:C4479431 DOID:0070415 OMIM:617412 brachycephaly, trichomegaly, and developmental delay