Rare Disease Library

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

Desminopathy

Desmin-related myofibrillar myopathy

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

KLHL9-related early-onset distal myopathy

OBSOLETE: LIMS2-related myopathy

RNF13-related severe early-onset epileptic encephalopathy

RNF13-related severe EOEE

SMPX-related distal myopathy

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM