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megaconial type congenital muscular dystrophy
Summary
- Synonym
-
- congenital megaconial myopathy
- congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
- congenital muscular dystrophy with mitochondrial structural abnormalities
- megaconial congenital muscular dystrophy
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0110632
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001324 | Muscle weakness |
| HP:0003593 | Infantile onset |
| HP:0001249 | Intellectual disability |
| HP:0100297 | Increased endomysial connective tissue |
| HP:0003198 | Myopathy |
| HP:0000252 | Microcephaly |
| HP:0003391 | Gowers sign |
| HP:0001270 | Motor delay |
| HP:0008064 | Ichthyosis |
| HP:0002465 | Poor speech |
