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Human Disease

orofaciodigital syndrome IX

Term ID
DOID:0060382
Synonyms
  • OFD9
  • orofaciodigital syndrome with retinal abnormalities
Definition
An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (2)
References
Ontology
Human Disease   ( DOID:0060382 )
Relationships
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Genes Involved
Zebrafish Models