Visualize Submit Comment

Metadata
ID	DOID:0080785
Name	Brown-Vialetto-Van Laere syndrome 1
Definition	A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. https://pubmed.ncbi.nlm.nih.gov/20206331/
Xrefs	MIM:211530
Parent Relationships	is_a Brown-Vialetto-Van Laere syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance