Name
Brown-Vialetto-Van Laere Syndrome 1
Synonmys
BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS ,
PONTOBULBAR PALSY WITH DEAFNESS
Classification
developmental,
eye,
genetic,
neurological,
otorhinolaryngological
Associated Genes
SLC52A3
(Withdrawn symbols:
C20orf54,
RFT2,
RFVT3,
bA371L19.1,
hRFT2
)
Mouse Orthologs
Slc52a3
(Withdrawn symbols:
2310046K01Rik
)
Source
OMIM:211530 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)