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bn:02711025n
Noun Concept
Categories: Syndromes affecting the nervous system, Enzyme defects, Congenital disorders of glycosylation, Muscular dystrophy, Autosomal recessive disorders
EN
Walker–Warburg syndrome  cerebroocular dysplasia-muscular dystrophy syndrome  Walker Warburg syndrome  cerebroocular dysgenesis  Chemke syndrome
EN
Walker–Warburg syndrome, also called Warburg syndrome, Chemke syndrome, HARD syndrome, Pagon syndrome, cerebroocular dysgenesis or cerebroocular dysplasia-muscular dystrophy syndrome, is a rare form of autosomal recessive congenital muscular dystrophy. Wikipedia
Definitions
Relations
Sources
EN
Walker–Warburg syndrome, also called Warburg syndrome, Chemke syndrome, HARD syndrome, Pagon syndrome, cerebroocular dysgenesis or cerebroocular dysplasia-muscular dystrophy syndrome, is a rare form of autosomal recessive congenital muscular dystrophy. Wikipedia
Rare form of autosomal recessive congenital muscular dystrophy Wikidata
IS A
rare disease
genetic disease
dominance
congenital muscular dystrophy
autosomal recessive disease
GENETIC ASSOCIATION
POMGNT1
POMT1
HEALTH SPECIALTY
neurology
ophthalmology
medical genetics
NAMED AFTER
Arthur Earl Walker
Mette Warburg
Wikipedia
EN
Walker–Warburg syndrome
Wikidata
EN
Walker–Warburg syndrome
Wikipedia Redirections
EN
cerebroocular dysgenesis, cerebroocular dysplasia-muscular dystrophy syndrome, Chemke syndrome, COD-MD syndrome, HARD +/- E syndrome, HARD syndrome, HARDE syndrome, Pagon syndrome, Walker-Warburg syndrome, Walker Warburg syndrome, Walker Warburg Syndrome, Warburg syndrome
Wikidata Alias
EN
cerebroocular dysgenesis, cerebroocular dysplasia-muscular dystrophy syndrome, Chemke syndrome, Cod-Md Syndrome, HARD syndrome, Hydrocephalus, Agyria, and Retinal Dysplasia, MDDGA1, Pagon syndrome, Walker-Warburg syndrome, Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related, Warburg syndrome, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1

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