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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) MTDPS7
OHAHA SYNDROME SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET IOSCA
271245
OMIM = Online Medalian Inheritance of Men
1186
10q24.31
rare
autosomal recessive
mutation in the C10ORF2 gene
symptoms
ataxia
cerebellar atrophy or hypoplasia
defect of walking, running, rising or climbing
epilepsy
eye movements, abnormal
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
hypogonadism
hypotonia
learning disability
mental retardation
muscle weakness
nystagmus
onset, childhood
onset, infancy
ophthalmoplegia
optic atrophy
peripheral neuropathy
psychosis
seizures
laboratory finding
EEG abnormalities -
Literature
Boycott KM,et al.Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8Am J Hum Genet976886-8932015
Park JH,et al.SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationAm J Hum Genet. 2015 Dec 397(6):894-903976894-9032015
Riley LG,et al.A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disordersJ Inherit Metab Dis402261-2692017