Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

fatal infantile hypertonic myofibrillar myopathy | RareConnect | RareConnect.io

/myofibrillar myopathy

/fatal infantile hypertonic myofibrillar myopathy

fatal infantile hypertonic myofibrillar myopathy

Rare Disease

MONDO:0013472

Also Known As

alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathyfatal infantile hypertonic myofibrillar myopathyMFM, fatal infantile hypertonic, alpha-B crystallin-relatedmyofibrillar myopathy type 7myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:613869 ↗

Orphanet

Orphanet:280553 ↗

GARD

Related Diseases

central core myopathy

MONDO:0007294

myofibrillar myopathy 1

MONDO:0011076

myofibrillar myopathy 3

MONDO:0012215

myofibrillar myopathy 4

MONDO:0012277

myofibrillar myopathy 5

MONDO:0012289

myofibrillar myopathy 6

MONDO:0013061

← Back to All Diseases