labyrinthine aplasia, microtia and microdontia
labyrinthine aplasia, microtia and microdontia
An autosomal recessive condition (OMIM:610706) characterised by type-I microtia, microdontia and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia or inner ear agenesis).Molecular pathology
LAMM is caused by a mutation of FGF3 on chromosome 11q13, which encodes fibroblast growth factor 3.