congenital myopathy 4A

Summary
Synonym
  • CFTD
  • congenital fiber-type disproportion
Definition
A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.
Super Class
autosomal dominant disease congenital myopathy physical disorder
External Links
Disease Ontology
DOID:0080102
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
952 CD38 CD38 molecule
1120 CHKB choline kinase beta
2218 FKTN fukutin
4534 MTM1 myotubularin 1
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
64419 MTMR14 myotubularin related protein 14
The Human Phenotype Ontology
Displaying entries 1 - 10 of 57 in total
HPO ID HPO Term
HP:0000218 High palate
HP:0000276 Long face
HP:0000347 Micrognathia
HP:0000602 Ophthalmoplegia
HP:0000678 Dental crowding
HP:0000767 Pectus excavatum
HP:0001252 Hypotonia
HP:0001270 Motor delay
HP:0001284 Areflexia
HP:0001315 Reduced tendon reflexes
Displaying 1 entry
Gene ID Gene Symbol Description
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024