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Metadata
ID DOID:0080786
Name Brown-Vialetto-Van Laere syndrome 2
Definition A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.
https://pubmed.ncbi.nlm.nih.gov/20206331/
Xrefs

OMIM:614707

Parent Relationships

is_a autosomal recessive disease

is_a Brown-Vialetto-Van Laere syndrome

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