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Summary
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 SCAR25
617584
OMIM = Online Medalian Inheritance of Men
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6q21
very rare
autosoma recessive
mutation in the ATG5 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
cognitive impairment
defect of walking, running, rising or climbing
dysmetria
nystagmus
onset, infancy
psychomotor retardation
laboratory finding
Literature
Sharma P1,Sahay RNUnusual Complication of Multidrug Resistant TuberculosisCase Rep Nephrol002017
Karet FE,et al.Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosisProc Natl Acad Sci U S A95116337-63421998