Disease #04599 (SOTOS-1 (Sotos syndrome, type 1 (SOTOS-1)), OMIM:117550)

Official abbreviation SOTOS-1
Name Sotos syndrome, type 1 (SOTOS-1)
OMIM ID 117550
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 135
Phenotype entries for this disease 116
Associated with 1 gene NSD1
Associated tissues -
Disease features -
Remarks -


Individuals

135 entries on 2 pages. Showing entries 1 - 100.
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00080945 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - SOTOS-1 Sotos syndrome 1 (OMIM:117550) NSD1 NSD1 1 1 Daniel Trujillano
00081055 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - SOTOS-1 Sotos syndrome 1 (OMIM:117550) NSD1 NSD1 1 1 Daniel Trujillano
00081819 - - - - - Germany - - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00269370 - - - M ? Italy Caucasian - 0 - - SOTOS-1 dolichocephaly (HP:0000268), frontal bossing (HP:0002007), high anterior hairline (HP:0009890), downslanted palpebral fissures (HP:0000494), pointed chin (HP:0000307) NSD1 NSD1 1 1 Domenico Coviello
00269594 - - - M - Italy Caucasian - 0 - - SOTOS-1 Aortic root aneurysm HP:0002616 NSD1 NSD1 1 1 Domenico Coviello
00269595 - - - M - Italy Caucasian - 0 - - SOTOS-1 Aortic dilatation NSD1 NSD1 1 1 Domenico Coviello
00269598 - - - M - Italy Caucasian - 0 - - SOTOS-1 Aortic dilatation NSD1 NSD1 1 1 Domenico Coviello
00276093 - - - F yes Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00276096 - - - M - Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00276100 - - - M - Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00276108 - - - - - - - - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00276110 - - - M - Italy - - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00276111 - - - M - Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289364 - - - - - Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289365 - - - M - Italy - - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289366 - - - F - Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289367 - - - M - Italy - - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289368 - - - M - Italy - - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00289369 - - - M - Italy - - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00302571 - - - M - Italy Caucasian - - - - SOTOS-1 Prominent forehead,Long face, Intellectual disability NSD1 NSD1 1 1 Domenico Coviello
00302572 - - - F - Italy Caucasian - 0 - - SOTOS-1 Overgrowth NSD1 NSD1 1 1 Domenico Coviello
00302573 - - - M - Italy Caucasian - - - - SOTOS-1 Overgrowth,long face, intellectual disability NSD1 NSD1 1 1 Domenico Coviello
00302574 - - - M - (Italy) Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00302679 - - - M - Italy Caucasian - - - - SOTOS-1 Behavioral abnormality,long face,macrocephaly,overgrowth NSD1 NSD1 1 1 Domenico Coviello
00302724 - - - M no Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00302823 - - - M ? Italy Caucasian - 0 - - SOTOS-1 Macrocephaly, Intellectual disability, Coarctation of aorta NSD1 NSD1 1 1 Domenico Coviello
00302834 - - - F - Italy Caucasian - - - - SOTOS-1 Long face, Overgrowth NSD1 NSD1 1 1 Domenico Coviello
00302843 - - - M no Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00302844 - - - F no Italy Caucasian - - - - SOTOS-1 Poor coordination,Long face, Intellectual disability NSD1 NSD1 1 1 Domenico Coviello
00302845 - - - F no Italy Caucasian - - - - SOTOS-1 Long face, seizures, NSD1 NSD1 2 1 Domenico Coviello
00302846 - - - F no Italy Caucasian - - - - SOTOS-1 Behavioral abnormality, intellectual disability, long face,muscular hypotonia , NSD1 NSD1 1 1 Domenico Coviello
00302847 - - - M no Italy Caucasian - - - - SOTOS-1 Long face, behavioral abnormality, poor coordination, intellectual disability,abnormality of the cardiovascular system,abnormality of the kidney NSD1 NSD1 1 1 Domenico Coviello
00302848 - - - F no Italy Caucasian - - - - SOTOS-1 Poor coordination, long face NSD1 NSD1 1 1 Domenico Coviello
00302850 - - - M no Italy Caucasian - - - - SOTOS-1 Long face, intellectual disability, NSD1 NSD1 1 1 Domenico Coviello
00302851 - - - M no Italy Caucasian - - - - SOTOS-1 Long face, overgrowth NSD1 NSD1 1 1 Domenico Coviello
00302852 - - - M no Italy Caucasian - - - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249), NSD1 NSD1 1 1 Domenico Coviello
00302855 - - - M - Italy Caucasian - - - - SOTOS-1 Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00302856 - - - F no Italy Caucasian - - - Ivumir SOTOS-1 Behavioral abnormality(HP:0000708),poor motor coordination (HP:0002275),long face (HP:0000276),postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249),Abnormality of the kidney(HP:0000077),Hydronephrosis HP:0000126,Hypoplasia of the corpus callosum (HP:0002079) NSD1 NSD1 1 1 Domenico Coviello
00302857 - - - M no Italy Caucasian - - - - SOTOS-1 Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079) NSD1 NSD1 1 1 Domenico Coviello
00302858 - - - F no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00302859 - - - M no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00302860 - - - F - Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00302861 - - - F - Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00302862 - - - F no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00302863 - - - F no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00302864 - - - F no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079),Pes planus (HP:0001763) NSD1 NSD1 1 1 Domenico Coviello
00302865 - - - M no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077) NSD1 NSD1 1 1 Domenico Coviello
00302867 - - - M no Italy Caucasian - - - - SOTOS-1 Postnatal macrocephaly (HP:0005490),Behavioral abnormality(HP:0000708) NSD1 NSD1 1 1 Domenico Coviello
00302868 - - - M no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), NSD1 NSD1 1 1 Domenico Coviello
00302869 - - - M no Italy Caucasian - - - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00303082 - - - F - Italy Caucasian - 0 - - SOTOS-1 Behavioral abnormality(HP:0000708), Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Bone overgrowth( HP:0100774), NSD1 NSD1 1 1 Domenico Coviello
00303083 - - - M - Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276), Intellectual disability (HP:0001249), Abnormality of the cardiovascular system (HP:0001626), Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303084 - - - F - Italy Caucasian - - - - SOTOS-1 Abnormality of the cardiovascular system (HP:0001626),Hypoplasia of the corpus callosum NSD1 NSD1 1 1 Domenico Coviello
00303085 - - - F - Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303086 - - - F no Italy Caucasian - - - - SOTOS-1 Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00303091 - - - M no Italy Caucasian - - - - SOTOS-1 Long face (HP:0000276), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303092 - - - M no Australia Caucasian - - - - SOTOS-1 Postnatal macrocephaly (HP:0005490) NSD1 NSD1 1 1 Domenico Coviello
00303363 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276), Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303365 - - - ? - Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00303366 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Seizures (HP:0001250) NSD1 NSD1 1 1 Domenico Coviello
00303367 - - - F no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303368 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249), Hypoplasia of the corpus callosum NSD1 NSD1 1 1 Domenico Coviello
00303522 - - - M no Italy - - 0 - - SOTOS-1 Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303523 - - - M no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Hypoplasia of the corpus callosum, Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077) NSD1 NSD1 1 1 Domenico Coviello
00303524 - - - M - Italy - - 0 - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00303525 - - - F no Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00303526 - - - F - Italy - - 0 - - SOTOS-1 Long face (HP:0000276), Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303567 - - - M no Italy - - 0 - - SOTOS-1 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), NSD1 NSD1 1 1 Domenico Coviello
00303569 - - - F no Italy Caucasian - 0 - - SOTOS-1 Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303570 - - - F no Italy Caucasian - 0 - - SOTOS-1 Postnatal macrocephaly (HP:0005490),Intellectual disability (HP:0001249),Seizures (HP:0001250),Strabismus (HP:0000486) NSD1 NSD1 1 1 Domenico Coviello
00303571 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00303572 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00303573 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303574 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303575 - - - F no Italy Caucasian - 0 - - SOTOS-1 Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00303576 - - - F no Italy Caucasian - 0 - - SOTOS-1 Behavioral abnormality(HP:0000708),Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303577 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00303578 - - - F - Italy Caucasian - 0 - - SOTOS-1 Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303579 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303580 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303581 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00303582 - - - F - Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Bone overgrowth( HP:0100774),Abnormality of the cardiovascular system (HP:0001626) NSD1 NSD1 1 1 Domenico Coviello
00303583 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774),Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303584 - - - M - Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077) NSD1 NSD1 1 1 Domenico Coviello
00303607 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00303608 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303609 - - - F no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077) NSD1 NSD1 1 1 Domenico Coviello
00303610 - - - M no Italy Caucasian - 0 - - SOTOS-1 Behavioral abnormality(HP:0000708) ,Poor motor coordination (HP:0002275),Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303611 - - - F - Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303612 - - - F no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303613 - - - F no Italy Caucasian - 0 - - SOTOS-1 - NSD1 NSD1 1 1 Domenico Coviello
00303614 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276) NSD1 NSD1 1 1 Domenico Coviello
00303615 - - - M no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774) NSD1 NSD1 1 1 Domenico Coviello
00303616 - - - M no Egypt - - 0 - - SOTOS-1 Long face (HP:0000276), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303617 - - - M no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Seizures (HP:0001250) NSD1 NSD1 1 1 Domenico Coviello
00303964 - - - F no Italy Caucasian - 0 - - SOTOS-1 - - - 0 1 Domenico Coviello
00303965 - - - M no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077),Infantile muscular hypotonia( HP:0008947) NSD1 NSD1 1 1 Domenico Coviello
00303966 - - - F no Italy Caucasian - 0 - - SOTOS-1 Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303967 - - - M no Italy Caucasian - 0 - - SOTOS-1 Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
00303968 - - - F no Italy Caucasian - 0 - - SOTOS-1 Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249) NSD1 NSD1 1 1 Domenico Coviello
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