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Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Disease definition

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.

ORPHA:352687

Classification level: Group of disorders
  • Synonym(s):
    • Lissencephaly type 2 with muscular and ocular involvement
    • MDDGA
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12588
  • MedDRA: -

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