Term Name: | Leber congenital amaurosis with early-onset deafness |
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Synonyms: | LCAEOD |
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. |
Ontology: | Human Disease [DOID:0112240] ( DOID:0112240 ) |