DISEASES

Disease-gene associations mined from literature

Human genes for craniofrontonasal syndrome

Craniofrontonasal syndrome [DOID:14737]

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.

Synonyms:  craniofrontonasal syndrome,  craniofrontonasal disease,  craniofrontonasal disorder,  craniofrontonasal syndromes,  DOID:14737 ...

Linkouts:  OMIM