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Leber congenital amaurosis with early-onset deafness
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease sensory system disease
External Links
- Disease Ontology
- DOID:0112240
- Mondo Disease Ontology
- OMIM
