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craniofrontonasal syndrome
Summary
- Synonym
-
- CFND
- CFNS
- craniofrontonasal dysostosis
- craniofrontonasal dysplasia
- Definition
- A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
- Super Class
- X-linked dominant disease syndrome
External Links
- Disease Ontology
- DOID:14737
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
