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Browse result for Walker-Warburg syndrome

※ introduction

    Walker¨CWarburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.

Reference
Wiki: Walker-Warburg syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01277O4350511041
B4GAT1
Beta-1,4-glucuronyltransferase 1
Homo sapiens