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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Walker-Warburg Syndrome
Eye Diseases > Eye Diseases, Hereditary > Walker-Warburg Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Walker-Warburg Syndrome
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Walker-Warburg Syndrome
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Walker-Warburg Syndrome
... > Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Cobblestone Lissencephaly > Walker-Warburg Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group II > Lissencephaly > Cobblestone Lissencephaly > Walker-Warburg Syndrome

Terme préférentiel

Walker-Warburg Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
  • Chemke Syndrome
  • COD-MD Syndrome
  • HARD Syndrome
  • Hydrocephalus, Agyria, And Retinal Dysplasia
  • Pagon Syndrome
  • Warburg Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-K3536N0G-D

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 30/06/2021