| 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/, https://pmc.ncbi.nlm.nih.gov/articles/PMC4970675/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1204415006 |
| SKOS |
exactMatch MIM:614707 |
| Alternateids |
DOID:0111612 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spinocerebellar ataxia 3 [RELATED] autosomal recessive spinocerebellar ataxia type 3 [RELATED] SCABD2 [EXACT] SCAR3 [RELATED] spinocerebellar ataxia with blindness and deafness 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |