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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.
推出的年份: 2011
副标题
树号: C10.500.507.450.499.249.500, C11.270.881, C16.131.666.507.450.499.249.500, C16.320.577.750
MeSH 单一 ID: D058494
进入的组:
  • Syndrome, Walker-Warburg
  • Walker Warburg Syndrome
  • Chemke Syndrome
  • Syndrome, Chemke
  • Warburg Syndrome
  • Syndrome, Warburg
  • HARD Syndrome
  • HARD Syndromes
  • Syndrome, HARD
  • Hydrocephalus, Agyria, And Retinal Dysplasia
  • Pagon Syndrome
  • Pagon Syndromes
  • Syndrome, Pagon
  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome
  • COD-MD Syndrome
  • COD MD Syndrome
  • COD-MD Syndromes
  • Syndrome, COD-MD
  • Muscular Dystrophy, Limb-Girdle, Type 2K
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
  • LGMD2K
  • Fukuyama Type Congenital Muscular Dystrophy
  • Fukuyama CMD
  • CMD, Fukuyama
  • Fukuyama Congenital Muscular Dystrophy
  • Fukuyama Muscular Dystrophy
  • Dystrophy, Fukuyama Muscular
  • Muscular Dystrophy, Fukuyama
  • Muscular Dystrophy, Congenital, Fukuyama Type
  • Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
  • Walker-Warburg Syndrome, Fktn-Related
  • Fktn-Related Walker-Warburg Syndrome
  • Fktn-Related Walker-Warburg Syndromes
  • Syndrome, Fktn-Related Walker-Warburg
  • Walker Warburg Syndrome, Fktn Related
  • Cerebromuscular Dystrophy, Fukuyama Type
  • Fukuyama Syndrome
  • Syndrome, Fukuyama
  • Muscle-Eye-Brain Disease
  • Muscle-Eye-Brain Diseases
  • Muscle Eye Brain Disease
  • MEB (Muscle-Eye-Brain) Syndrome
  • Muscle-Eye-Brain Disease, POMT1-Related
  • Disease, POMT1-Related Muscle-Eye-Brain
  • Muscle Eye Brain Disease, POMT1 Related
  • Muscle-Eye-Brain Diseases, POMT1-Related
  • POMT1-Related Muscle-Eye-Brain Disease
  • POMT1-Related Muscle-Eye-Brain Diseases
  • Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
  • Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
  • Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
  • MDDGA1
  • alpha-Dystroglycanopathies
  • alpha Dystroglycanopathies
早前的内容:
  • Cobblestone Lissencephaly (2007-2010)
  • Muscular Dystrophies/congenital (1979-2010)

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