Walker-Warburg Syndrome
About the Disease
Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as hard syndrome, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy type a5, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include eye, brain and pons, and related phenotypes are hydrocephalus and global developmental delay
Common Targets / Biomarkers
B4GAT1 | POMGNT1 | POMT1 | POMGNT2 | FKTN | CRPPA | POMT2 | LARGE1 | DAG1 | FKRP | DPM3 | B3GALNT2 | POMK
Other Diseases
Warsaw Breakage Syndrome | Weill-Marchesani Syndrome | Werner's Syndrome | Whipple's Disease | Wieacker-Wolff Syndrome | Wiedemann-Steiner Syndrome | Williams Syndrome | Wilson's Disease | Wiskott-Aldrich Syndrome | Withdrawal Syndrome | Wolcott-Rallison Syndrome | Wolff-Parkinson-White Syndrome | Wolfram Syndrome | Wolfram Syndrome 2 | Wolman Disease | Woodhouse-Sakati Syndrome | X-linked Acrogigantism | X-linked Charcot-Marie-Tooth Disease | X-linked Creatine Transporter Deficiency | X-linked Myotubular Myopathy | X-linked Sideroblastic Anemia | Xeroderma Pigmentosum | Xeroderma Pigmentosum Variant Type | Yellow Fever | Zellweger Syndrome | Zimmermann-Laband Syndrome | Zollinger-Ellison Syndrome | Zygomycosis
