SOTOS SYNDROME

SOTOS1, FORMERLY

http://purl.bioontology.org/ontology/OMIM/117550

SOTOS1, FORMERLY

CEREBRAL GIGANTISM

SOTOS SYNDROME 1, FORMERLY

CHROMOSOME 5q35 DELETION SYNDROME

SOTOS

C0175695

5q35

ARA267

NSD1

STO

SOTOS

http://purl.bioontology.org/ontology/OMIM/MTHU017248

http://purl.bioontology.org/ontology/OMIM/MTHU002088

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU019040

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU036548

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU019029

http://purl.bioontology.org/ontology/OMIM/MTHU001221

http://purl.bioontology.org/ontology/OMIM/MTHU019035

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU019039

http://purl.bioontology.org/ontology/OMIM/MTHU019033

http://purl.bioontology.org/ontology/OMIM/MTHU019037

http://purl.bioontology.org/ontology/OMIM/MTHU019041

http://purl.bioontology.org/ontology/OMIM/MTHU019031

http://purl.bioontology.org/ontology/OMIM/MTHU005725

http://purl.bioontology.org/ontology/OMIM/MTHU014444

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU002089

http://purl.bioontology.org/ontology/OMIM/MTHU006873

http://purl.bioontology.org/ontology/OMIM/MTHU000244

http://purl.bioontology.org/ontology/OMIM/MTHU002674

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU019034

http://purl.bioontology.org/ontology/OMIM/MTHU019032

http://purl.bioontology.org/ontology/OMIM/MTHU019038

http://purl.bioontology.org/ontology/OMIM/MTHU019028

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU018110

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU019042

http://purl.bioontology.org/ontology/OMIM/MTHU019036

http://purl.bioontology.org/ontology/OMIM/MTHU019030

http://purl.bioontology.org/ontology/OMIM/MTHU036368

Phenotype description, molecular basis known.

117550

3

pound

SOTOS SYNDROME

De novo mutation [MISCELLANEOUS]

Few familial (parent offspring) cases reported [MISCELLANEOUS]

Caused by mutation in the nuclear receptor binding SET domain protein 1 gene (NSD1, 606681.0001) [MOLECULAR BASIS]

Slight increased risk for malignancy [MISCELLANEOUS]

Majority of cases are sporadic [MISCELLANEOUS]

T047