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Summary
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (BVVLS2)
614707
OMIM = Online Medalian Inheritance of Men
8q24.3
rare
autosomal recessive
mutation in the SLC52A2 gene
symptoms
abnormal movement
areflexia
ataxia
behavior. aggressive
blindness, visual loss, visual impairment
clumsiness, coordination defect or unsteadiness
dysphagia
early death
hearing defect, deafness
hypotonia
muscle weakness
neuropathy
nystagmus
onset, childhood
optic atrophy
respiratory insufficiency
skoliosis, kyphoskoliosis
laboratory finding
Acylcarnitine -Ámol/lserum
Literature
Mucha BE,et al.TBC1D24-Related DisordersGeneReviews-« Internet002015