Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
blind hypertensive eye
MONDO:0001363
vitreous syneresis
MONDO:0001377
degenerative myopia
MONDO:0001383
choroidal sclerosis
MONDO:0004885
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
MONDO:0008023
Krabbe disease
MONDO:0009499