Rare Disease Library

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Distal anoctaminopathy

MMD3 · Miyoshi muscular dystrophy type 3

Multiminicore myopathy

MmD · Multiminicore disease

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 4

MMDS4

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5