Sotos-like syndrome

GPTKB entity

Statements (31)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:associatedWith gptkb:KMT2D
gptkb:NSD1
gptkb:CREBBP
gptkb:EP300
gptkb:APC2
gptkb:SETD2
gptkb:EZH2
gptkb:PTEN
gptkb:DNMT3A
gptkb:KMT2A
GRB10
NFIX
NSD2
BRWD3
PHF6
gptkbp:causedBy genetic disorder
https://www.w3.org/2000/01/rdf-schema#label Sotos-like syndrome
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 617921
gptkbp:similarTo gptkb:Sotos_syndrome
gptkbp:symptom hypotonia
intellectual disability
developmental delay
macrocephaly
distinctive facial features
overgrowth
behavioral problems
advanced bone age
gptkbp:bfsParent gptkb:KMT3B
gptkbp:bfsLayer 7