OBO ID: DOID:0060342
Term Name: acromelic frontonasal dysostosis Search Ontology:
Synonyms:
Definition: A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. https://www.ncbi.nlm.nih.gov/pubmed/15264282
References:
Ontology: Human Disease   (DOID:0060342)
OTHER acromelic frontonasal dysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZSWIM6 Acromelic frontonasal dysostosis 603671
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)