Definition

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.

Synonyms

congenital muscular dystrophy LARGE-related
congenital muscular dystrophy type 1D

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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muscular dystrophy-dystroglycanopathy type B6

muscular dystrophy-dystroglycanopathy type B6

Associated Genes

Associated Alleles

Associated Models