Walker-Warburg Syndrome

Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.

Also Known As:

COD-MD Syndrome; Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Fukuyama CMD; Fukuyama Muscular Dystrophy; Fukuyama Syndrome; HARD Syndrome; Hydrocephalus, Agyria, And Retinal Dysplasia; LGMD2K; MDDGA1; MEB (Muscle-Eye-Brain) Syndrome; Muscle Eye Brain Disease; Muscle-Eye-Brain Disease, POMT1-Related; Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A; Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation; Muscular Dystrophy, Limb-Girdle, Type 2K; Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1; Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1; Pagon Syndrome; Walker-Warburg Syndrome, Fktn-Related; CMD, Fukuyama; COD MD Syndrome; COD-MD Syndromes; Cerebroocular Dysplasia Muscular Dystrophy Syndrome; Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Disease, POMT1-Related Muscle-Eye-Brain; Dystrophy, Fukuyama Muscular; Fktn-Related Walker-Warburg Syndrome; Fktn-Related Walker-Warburg Syndromes; HARD Syndromes; Muscle Eye Brain Disease, POMT1 Related; Muscle-Eye-Brain Diseases; Muscle-Eye-Brain Diseases, POMT1-Related; Muscular Dystrophy, Fukuyama; POMT1-Related Muscle-Eye-Brain Disease; POMT1-Related Muscle-Eye-Brain Diseases; Pagon Syndromes; Syndrome, COD-MD; Syndrome, Chemke; Syndrome, Fktn-Related Walker-Warburg; Syndrome, Fukuyama; Syndrome, HARD; Syndrome, Pagon; Syndrome, Walker-Warburg; Syndrome, Warburg; Walker Warburg Syndrome; Walker Warburg Syndrome, Fktn Related; alpha Dystroglycanopathies; Cerebromuscular Dystrophy, Fukuyama Type; Chemke Syndrome; Fukuyama Congenital Muscular Dystrophy; Fukuyama Type Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; Muscular Dystrophy, Congenital, Fukuyama Type; Warburg Syndrome; alpha-Dystroglycanopathies

Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Malformations of Cortical Development: 376
    - Group II Malformations of Cortical Development: 62
      - Lissencephaly: 236
        Cobblestone Lissencephaly: 22
        Walker-Warburg Syndrome: 277
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Walker-Warburg Syndrome: 277
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Malformations of Cortical Development: 376
      - Group II Malformations of Cortical Development: 62
        Lissencephaly: 236
        Cobblestone Lissencephaly: 22
        Walker-Warburg Syndrome: 277
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Walker-Warburg Syndrome: 277

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