Rare Disease Library

OBSOLETE: Shy-Drager syndrome

OBSOLETE: MSA-urinary dysfunction syndrome · OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome

Multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

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

Multiple mitochondrial dysfunctions syndrome type 6

PMPCB deficiency

Multiple system atrophy

MSA · Multisystem atrophy

Multisystemic smooth muscle dysfunction syndrome

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: Syndromic macular dystrophy