Sotos ir augimo sutrikimų sindromai

Ką keičia diagnozė

Žinojimas leidžia stebėti susijusias problemas, įskaitant kiek padidėjusią riziką susirgti tam tikrais vaikystės navikais.

Tiriami genai

Taip pat žinoma kaip

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

Tiriami genai

Taip pat žinoma kaip

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

Tiriami genai

Taip pat žinoma kaip

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

Tiriami genai

Taip pat žinoma kaip

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