has material basis in germline mutation in ISCA2 eye degenerative disorder multiple mitochondrial dysfunctions syndrome 4 https://www.malacards.org/card/multiple_mitochondrial_dysfunctions_syndrome_4 multiple mitochondrial dysfunctions syndrome 4 Orphanet:457406 OMIM:616370 MONDO:0014611 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. MMDS4 GARD:0017809 DOID:0080136 MEDGEN:899010 multiple mitochondrial dysfunctions syndrome type 4 ISCA2 fatal multiple mitochondrial dysfunctions syndrome UMLS:C4225348 fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2 fatal multiple mitochondrial dysfunctions syndrome leukodystrophy