orofaciodigital syndrome VIII

Summary
Synonym
  • OFD8
Definition
An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance.
Super Class
X-linked recessive disease orofaciodigital syndrome
External Links
Disease Ontology
DOID:0060378
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
952 CD38 CD38 molecule
2523 FUT1 fucosyltransferase 1 (H blood group)
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024