OBO ID: DOID:0060382
Term Name: orofaciodigital syndrome IX Search Ontology:
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)
OTHER orofaciodigital syndrome IX PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None