Disease_Mapped_To_Gene
Sturge-Weber Syndrome
A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits.
A rare, congenital disorder that affects the brain, skin, and eyes. Abnormal blood vessel growth occurs in the trigeminal nerve in the face and the meninges (covering) of the brain. This abnormal growth causes red or purple skin discoloration (sometimes called a port wine stain), usually on one side of the face, and can also cause seizures, learning disabilities, and glaucoma.
C0038505
C3391
Disease or Syndrome
Encephalotrigeminal Syndrome
NICHD
SWS
Sturge-Weber Disease
Sturge-Weber Syndrome
Sturge-Weber Syndrome
Sturge-Weber syndrome
Sturge-Weber_Syndrome
GNAQ Gene
Phakomatosis
NICHD Terminology
Neonatal Research Network Terminology