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"

11 matching diseasesClear search ×

Qualitative or quantitative defects of alpha-dystroglycan

Dystroglycanopathy · Alpha-dystroglycanopathy

ORPHA:371024

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

ORPHA:352687

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy

ORPHA:98910

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

ORPHA:280333

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

ORPHA:62

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

ORPHA:370953

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

ORPHA:219

Primary qualitative or quantitative defects of alpha-dystroglycan

Primary alpha-dystroglycanopathy · Primary dystroglycanopathy

ORPHA:371040

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Secondary alpha-dystroglycanopathy · Secondary dystroglycanopathy

ORPHA:207113

Qualitative or quantitative defects of sarcoglycan

Sarcoglycanopathy

ORPHA:207052