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Brown-Vialetto-van Laere syndrome 1

Synonyms
BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD; BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; PONTOBULBAR PALSY WITH DEAFNESS; Pontobulbar palsy and neurosensory deafness; Riboflavin Transporter Deficiency, Type 3 (Brown-Vialetto-Van Laere Syndrome 1)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q. [from OMIM]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, SLC52A3
    Summary: solute carrier family 52 member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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