OBO ID: DOID:0060379
Term Name: acrofacial dysostosis Search Ontology:
Synonyms:
Definition: A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis
References:
Ontology: Human Disease   (DOID:0060379)
OTHER acrofacial dysostosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None