Leber congenital amaurosis with early-onset deafness

Term ID

DOID:0112240

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. https://pubmed.ncbi.nlm.nih.gov/29198720/

References

• OMIM:617879

Ontology

Human Disease   ( DOID:0112240 )