lacrimoauriculodentodigital syndrome 2

Term ID

DOID:0081371

Synonyms

• Lacrimo-auriculo-dento-digital syndrome 2

Definition

A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. https://pubmed.ncbi.nlm.nih.gov/16501574/

References

• OMIM:620192

Ontology

Human Disease   ( DOID:0081371 )