Human genes for trichorhinophalangeal syndrome type I
Trichorhinophalangeal syndrome type I [DOID:14743]
A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
Synonyms: trichorhinophalangeal syndrome type I, DOID:14743, trichorhinophalangeal syndrome type Is, trichorhinophalangeal syndrome type 1, type I trichorhinophalangeal syndrome ...
Linkouts: OMIM