BROWN-VIALETTO-VAN LAERE SYNDROME 1

BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS

http://purl.bioontology.org/ontology/OMIM/211530

BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS

BVVLS1

PONTOBULBAR PALSY WITH DEAFNESS

C0796274

20p13

C20orf54

RFT2

BVVLS1

SLC52A3

http://purl.bioontology.org/ontology/OMIM/MTHU027732

http://purl.bioontology.org/ontology/OMIM/MTHU000344

http://purl.bioontology.org/ontology/OMIM/MTHU027738

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU027742

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU024041

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU000990

http://purl.bioontology.org/ontology/OMIM/MTHU002561

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU003173

http://purl.bioontology.org/ontology/OMIM/MTHU004798

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU027729

http://purl.bioontology.org/ontology/OMIM/MTHU003762

http://purl.bioontology.org/ontology/OMIM/MTHU010471

http://purl.bioontology.org/ontology/OMIM/MTHU027733

http://purl.bioontology.org/ontology/OMIM/MTHU037277

http://purl.bioontology.org/ontology/OMIM/MTHU027739

http://purl.bioontology.org/ontology/OMIM/MTHU027731

http://purl.bioontology.org/ontology/OMIM/MTHU027737

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU036444

http://purl.bioontology.org/ontology/OMIM/MTHU014952

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU027740

http://purl.bioontology.org/ontology/OMIM/MTHU027730

http://purl.bioontology.org/ontology/OMIM/MTHU027743

http://purl.bioontology.org/ontology/OMIM/MTHU005584

http://purl.bioontology.org/ontology/OMIM/MTHU002951

http://purl.bioontology.org/ontology/OMIM/MTHU001707

http://purl.bioontology.org/ontology/OMIM/MTHU010738

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU037278

Phenotype description, molecular basis known.

211530

3

pound

BROWN-VIALETTO-VAN LAERE SYNDROME 1

Deafness tends to occur before other neurologic signs, except in patients with very early onset [MISCELLANEOUS]

Death usually due to respiratory failure [MISCELLANEOUS]

Onset in infancy and third decade had been reported [MISCELLANEOUS]

Caused by mutation in the solute carrier family 52 (riboflavin transporter), member 3 gene (SLC52A3, 613350.0001) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

Variable age at onset, most often in second decade [MISCELLANEOUS]

Earlier onset is associated with more rapid progression [MISCELLANEOUS]

T047