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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3(MDDGA3)

MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
Synonyms: MDDGA3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
 
OMIM®: 253280; 606822

Definition

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

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