Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

5 matching diseasesClear search ×

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

ORPHA:707983

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

ORPHA:399103

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

KLHL9-related early-onset distal myopathy

ORPHA:399081

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

ORPHA:314485