lacrimoauriculodentodigital syndrome 3

Term ID

DOID:0081372

Synonyms

• Lacrimo-auriculo-dento-digital syndrome 3

Definition

A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. https://pubmed.ncbi.nlm.nih.gov/16630169/

References

• OMIM:620193

Ontology

Human Disease   ( DOID:0081372 )