Leber congenital amaurosis with early-onset deafness (DOID:0112240)
Alliance: disease page
Synonyms: LCAEOD
Alt IDs: OMIM:617879
Definition: A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.