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Associated Genes SLC52A3 (Withdrawn symbols: C20orf54, RFVT3, bA371L19.1, hRFT2 )
Mouse Orthologs Slc52a3 (Withdrawn symbols: 2310046K01Rik )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)