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DO Term : congenital muscular dystrophy-dystroglycanopathy type A10 [DOID:0111239] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
  • synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10,
  • MDDGA10,
  • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related,
  • 615041,
  • OMIM:615041
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