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Disease Walker-Warburg Syndrome

Name Walker-Warburg Syndrome
Synonyms alpha Dystroglycanopathies | alpha-Dystroglycanopathies | Cerebromuscular Dystrophy, Fukuyama Type | Cerebroocular Dysplasia Muscular Dystrophy Syndrome | Cerebroocular Dysplasia-Muscular Dystrophy Syndrome | Chemke Syndrome | CMD, Fukuyama | COD MD Syndrome | COD-MD Syndrome | COD-MD Syndromes | Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 | Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 | Disease, POMT1-Related Muscle-Eye-Brain | Diseases, POMT1-Related Muscle-Eye-Brain | Dystrophy, Fukuyama Muscular | FCMD | Fukuyama CMD | Fukuyama Congenital Muscular Dystrophy | Fukuyama Muscular Dystrophy | Fukuyama Syndrome | Fukuyama Type Congenital Muscular Dystrophy | HARD Syndrome | HARD Syndromes | Hydrocephalus, Agyria, And Retinal Dysplasia | LGMD2K | MDDGA1 | MDDGA2 | MDDGA3 | MDDGA4 | MDDGA5 | MDDGA6 | MEB (Muscle-Eye-Brain) Syndrome | Muscle Eye Brain Disease | Muscle-Eye-Brain Disease | Muscle Eye Brain Disease, POMT1 Related | Muscle-Eye-Brain Disease, POMT1-Related | Muscle-Eye-Brain Diseases | Muscle-Eye-Brain Diseases, POMT1-Related | Muscular Dystrophy, Congenital, Fukuyama Type | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 | Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 | Muscular Dystrophy, Fukuyama | Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation | Muscular Dystrophy, Limb-Girdle, Type 2K | Pagon Syndrome | Pagon Syndromes | POMT1-Related Muscle-Eye-Brain Disease | POMT1-Related Muscle-Eye-Brain Diseases | Syndrome, Chemke | Syndrome, COD-MD | Syndrome, Fukuyama | Syndrome, HARD | Syndrome, Pagon | Syndromes, COD-MD | Syndromes, HARD | Syndromes, Pagon | Syndrome, Walker-Warburg | Syndrome, Warburg | Walker Warburg Syndrome | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED | WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED | Warburg Syndrome
Definition 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.
Categories Congenital abnormality | Eye disease | Genetic disease (inborn) | Nervous system disease
MeSH® ID D058494
OMIM® IDs 236670 | 253280 | 253800 | 613150 | 613153 | 613154

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes Walker-Warburg Syndrome Has associated chemicals Has associated genes
2. DiseasesEye Diseases Has associated chemicals Has associated genes Has associated exposure references Eye Diseases, Hereditary Has associated chemicals Has associated genes Walker-Warburg Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Cobblestone Lissencephaly Has associated chemicals Has associated genes Walker-Warburg Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Muscular Dystrophies Has associated chemicals Has associated genes Walker-Warburg Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Walker-Warburg Syndrome Has associated chemicals Has associated genes
  COD (cerebroocular dysgenesis)
  Muscular dystrophy, congenital, with central nervous system involvement
  Walker-Warburg Syndrome, Fktn-Related