FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term megaconial type congenital muscular dystrophy ID (Ontology) DOID:0110632 (Human Disease)
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.
Also Known As "congenital megaconial myopathy" ; "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" ; "congenital muscular dystrophy with mitochondrial structural abnormalities" (for all, see Synonyms field below)
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 Genes
 megaconial type congenital muscular dystrophy       1
 for disease ribbon | megaconial type congenital muscular dystrophy       1
 model of | megaconial type congenital muscular dystrophy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   megaconial type congenital muscular dystrophy  1 rec.
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Is a congenital muscular dystrophy
autosomal recessive disease
Part of
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Synonyms
  • "congenital megaconial myopathy" EXACT
    "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT
    "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT
    "megaconial congenital muscular dystrophy" EXACT
Secondary IDs
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ICD10CM:G71.2
MIM:602541
ORDO:280671