acrofacial dysostosis Preis type
http://purl.obolibrary.org/obo/MONDO_0021764
Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ PMID:7625437 https://orcid.org/0000-0001-5208-3432 ]
Term info
- GARD:0000495 (MONDO:equivalentTo)
gard_rare, n_of_one
Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder.
MONDO:0021764
https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type