"Walker-Warburg Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D058494
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| MeSH Number(s) |
C10.500.507.450.499.249.500 C11.270.881 C16.131.666.507.450.499.249.500 C16.320.577.750
|
| Concept/Terms |
Walker-Warburg Syndrome- Walker-Warburg Syndrome
- Syndrome, Walker-Warburg
- Walker Warburg Syndrome
- Muscle-Eye-Brain Disease, POMT1-Related
- Disease, POMT1-Related Muscle-Eye-Brain
- Diseases, 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
- Pagon Syndrome
- Pagon Syndromes
- Syndrome, Pagon
- Syndromes, Pagon
- Warburg Syndrome
- Syndrome, Warburg
- Hydrocephalus, Agyria, And Retinal Dysplasia
- MDDGA1
- Chemke Syndrome
- Syndrome, Chemke
- COD-MD Syndrome
- COD MD Syndrome
- COD-MD Syndromes
- Syndrome, COD-MD
- Syndromes, COD-MD
- Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
- Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
- HARD Syndrome
- HARD Syndromes
- Syndrome, HARD
- Syndromes, HARD
- Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
- Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Muscular Dystrophy, Limb-Girdle, Type 2K- Muscular Dystrophy, Limb-Girdle, Type 2K
- Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
- LGMD2K
Muscle-Eye-Brain Disease- Muscle-Eye-Brain Disease
- Muscle-Eye-Brain Diseases
- Muscle Eye Brain Disease
- MEB (Muscle-Eye-Brain) Syndrome
Fukuyama Type Congenital Muscular Dystrophy- Fukuyama Type Congenital Muscular Dystrophy
- Fukuyama CMD
- CMD, Fukuyama
- Muscular Dystrophy, Congenital, Fukuyama Type
- Fukuyama Muscular Dystrophy
- Dystrophy, Fukuyama Muscular
- Muscular Dystrophy, Fukuyama
- Fukuyama Syndrome
- Syndrome, Fukuyama
- Cerebromuscular Dystrophy, Fukuyama Type
- Fukuyama Congenital Muscular Dystrophy
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Below are MeSH descriptors whose meaning is more general than "Walker-Warburg Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Walker-Warburg Syndrome".
This graph shows the total number of publications written about "Walker-Warburg Syndrome" by people in this website by year, and whether "Walker-Warburg Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Walker-Warburg Syndrome" by people in Profiles.
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Spontaneous Spongiform Brainstem Degeneration in a Young Mouse Lemur (Microcebus murinus) with Conspicuous Behavioral, Motor, Growth, and Ocular Pathologies. Comp Med. 2018 12 01; 68(6):489-495.
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Congenital basis of posterior fossa anomalies. Neuroradiol J. 2015 Jun; 28(3):238-53.
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Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91.