MFM2

ALPHA-B CRYSTALLINOPATHY

MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE

MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY

MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED

http://purl.bioontology.org/ontology/OMIM/608810

MFM2

ALPHA-B CRYSTALLINOPATHY

MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE

MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY

MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED

C1837317

11q22.3-q23.1

CRYA2

CTRCT16

CMD1II

CRYAB

CTPP2

MFM2

http://purl.bioontology.org/ontology/OMIM/MTHU038926

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU033373

http://purl.bioontology.org/ontology/OMIM/MTHU000345

http://purl.bioontology.org/ontology/OMIM/MTHU000724

http://purl.bioontology.org/ontology/OMIM/MTHU000421

http://purl.bioontology.org/ontology/OMIM/MTHU001666

http://purl.bioontology.org/ontology/OMIM/MTHU001667

http://purl.bioontology.org/ontology/OMIM/MTHU001664

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU001663

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU000347

http://purl.bioontology.org/ontology/OMIM/MTHU001662

http://purl.bioontology.org/ontology/OMIM/MTHU000797

http://purl.bioontology.org/ontology/OMIM/MTHU001661

http://purl.bioontology.org/ontology/OMIM/MTHU001665

http://purl.bioontology.org/ontology/OMIM/MTHU031268

Phenotype description, molecular basis known.

608810

3

pound

MYOPATHY, MYOFIBRILLAR, 2

Caused by mutation in the alpha-B-crystallin gene (CRYAB, 123590.0001) [MOLECULAR BASIS]

Slowly progressive [MISCELLANEOUS]

Adult onset [MISCELLANEOUS]

Two patients without cardiomyopathy or cataracts have been reported [MISCELLANEOUS]

Clinical variability [MISCELLANEOUS]

T047