Rare Disease Library

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia