Disease: Brown-Vialetto-Van Laere Syndrome 1

Name Brown-Vialetto-Van Laere Syndrome 1

Synonyms BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS , PONTOBULBAR PALSY WITH DEAFNESS

Classification developmental, eye, genetic, neurological, otorhinolaryngological, sucking/swallowing

Phenotypes Abnormal cerebellum morphology; Ankle clonus; Ataxia; Autosomal recessive inheritance; Bulbar palsy; Clumsiness; Cranial nerve motor loss; Diaphragmatic weakness; Dysphagia; External ophthalmoplegia; Facial palsy; Hand muscle atrophy; Juvenile onset; Knee clonus; Kyphosis; Muscular hypotonia; Myopathic facies; Neck muscle weakness; Nocturnal hypoventilation; Peripheral neuropathy; Progressive; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorineural hearing impairment; Stridor; Tongue atrophy; Tongue fasciculations; Vocal cord paralysis; Weak voice

Associated Genes SLC52A3 (Withdrawn symbols: C20orf54, RFVT3, bA371L19.1, hRFT2 )

Mouse Orthologs Slc52a3 (Withdrawn symbols: 2310046K01Rik )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)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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