- ... syndrome. Learn more about the gene associated with Sturge-Weber syndrome GNAQ Inheritance Sturge-Weber syndrome is not inherited. ...
- Sturge-Weber syndrome (SWS) is a rare disorder that is present at birth. A child with this condition will ... Organization for Rare Disorders -- rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations NIH Genetic and Rare Diseases Information ...
- Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port ... seizures or learning disorders are also associated with Sturge-Weber syndrome.
- ... stains in the face may be seen in Sturge-Weber syndrome, which may also include glaucoma, retinal detachment, calcification ...
- ... signaling pathways. Health Conditions Related to Genetic Changes Sturge-Weber syndrome At least one mutation in the GNAQ gene has been found to cause Sturge-Weber syndrome. Sturge-Weber syndrome is a condition that affects ...
- ... published></health-condition-summary><health-condition-summary ><name >Sturge-Weber syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... Liberski PP, Alwasiak J, Wegrzyn Z, et al. Sturge-Weber syndrome with a unilateral developmental anomaly of the cerebral ... 6312438 ] 56. Bendl BJ, Bashir R, Dowling AD. Sturge-Weber syndrome. Cutis. 1983 Mar; 31 (3):286–94. X- ...
- ... focal cortical increase of interictal glucose metabolism in Sturge-Weber syndrome: implications for epileptogenesis. Epilepsia. 2011 Jul;52(7): ... Karia S, et al. Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatr Neurol. 2011 Jun;44(6):443–9. ...
- ... Stuart-Prower factor deficiency, see Factor X deficiency Sturge-Weber syndrome Sturge-Weber-Dimitri syndrome, see Sturge-Weber syndrome Sturge-Weber-Krabbe syndrome, see Sturge-Weber syndrome ...
- ... life. Large capillary malformations are not typical. GNAQ Sturge-Weber syndrome (SWS) (OMIM 185300 ) See footnote 2. Intracranial vascular ... of GNAQ has been reported in individuals with Sturge-Weber syndrome [ Shirley et al 2013 ]. 3. Leptomeningeal angiomatosis most ...
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