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brachycephaly, trichomegaly, and developmental delay

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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}).
Uniprot Description An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients.
Mondo Term and Equivalent IDs
MONDO:0044311:  brachycephaly, trichomegaly, and developmental delay
UMLS:C4479431: