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Details of CRYAB gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608810 |
Cataract, posterior polar, 2 (CTPP2) [MIM:613763]: A subcapsular opacity, usually disk-shaped, located at the back of the lens. It can have a marked effect on visual acuity. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613763 |
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB) [MIM:613869]: A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613869 |
