※ PTMD 2.0 database Online Browse Options
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
Reference
Wiki: Walker-Warburg syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01277 | O43505 | 11041 | B4GAT1 | Beta-1,4-glucuronyltransferase 1 | Homo sapiens |
