has material basis in germline mutation in NSD1 syndromic disease nervous system disorder autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome partial deletion of the long arm of chromosome 5 skeletal dysplasia Sotos syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6321 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/sotos_syndrome https://www.malacards.org/card/sotos_syndrome_1 NCIT:C75019 Sotos syndrome type 1 Sotos' syndrome distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development OMIMPS:117550 MEDGEN:61232 MONDO:0019349 NSD1 Sotos syndrome Sotos syndrome caused by mutation in NSD1 chromosome 5q35 deletion syndrome MedDRA:10064387 NORD:1727 NANDO:1200679 GARD:0010091 DOID:14748 SOTOS1 cerebral gigantism icd11.foundation:1887392960 MESH:D058495 OMIM:117550 SCTID:75968004 DOID:0112103 Sotos syndrome NANDO:2200953 DECIPHER:17 Orphanet:821 Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. Sotos syndrome 1 cerebral gigantism syndrome UMLS:C0175695 overgrowth syndrome