Rare Disease Library

Alkaline ceramidase 3 deficiency

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

4H leukodystrophy

POLR-related leukodystrophy

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Severe early-childhood-onset retinal dystrophy

EOSRD · Early-onset severe retinal dystrophy