Sotos'i ja ülekasvuhäirete sündroomid

Mida diagnoos muudab

Wenn Sie davon wissen, lassen sich damit verbundene Probleme überwachen, darunter ein mäßig erhöhtes Risiko für bestimmte Tumoren im Kindesalter.

Analüüsitud geenid

Tuntud ka nimetustena

cerebral gigantism; cerebral gigantism syndrome; chromosome 5q35 deletion syndrome; distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; NSD1 Sotos syndrome; Sotos syndrome 1; Sotos syndrome caused by mutation in NSD1; Sotos syndrome type 1; Sotos' syndrome; SOTOS1

Analüüsitud geenid

Tuntud ka nimetustena

camptodactyly - overgrowth - unusual facies; camptodactyly-overgrowth-unusual facies syndrome; EZH2 related overgrowth; intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate; mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate; overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly; Weaver like syndrome; Weaver Smith syndrome; Weaver Williams syndrome; WVS

Analüüsitud geenid

Tuntud ka nimetustena

DNMT3A-related overgrowth syndrome; tall stature-intellectual disability-facial dysmorphism syndrome; TATTON-BROWN-Rahman syndrome; TBRS

Analüüsitud geenid

Tuntud ka nimetustena

Malan syndrome; Sotos syndrome 2; Sotos syndrome type 2; SOTOS2