Term Name: Leber congenital amaurosis with early-onset deafness
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 )

Relationships
is a type of: autosomal dominant disease sensory system disease