Phenotypes for disease #04599 (SOTOS1 (Sotos syndrome, type 1 (SOTOS-1)), OMIM:117550)

116 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000060514 Sotos syndrome 1 (OMIM:117550) - - Isolated (sporadic) - - - - - Daniel Trujillano 00080945
0000060624 Sotos syndrome 1 (OMIM:117550) - - Isolated (sporadic) - - - - - Daniel Trujillano 00081055
0000061470 - - - Unknown - - - - - Gemeinschaftspraxis für Humangenetik Dresden 00081819
0000207249 dolichocephaly (HP:0000268), frontal bossing (HP:0002007), high anterior hairline (HP:0009890), downslanted palpebral fissures (HP:0000494), pointed chin (HP:0000307) Suspected Sotos syndrome SOTOS1 Isolated (sporadic) 00y11m 01y09m - - - Domenico Coviello 00269370
0000207399 Aortic root aneurysm HP:0002616 - - Isolated (sporadic) - - - - - Domenico Coviello 00269594
0000207400 Aortic dilatation - - Isolated (sporadic) - - - - - Domenico Coviello 00269595
0000207401 Aortic dilatation - Sotos syndrome Unknown - - - - - Domenico Coviello 00269598
0000229760 Prominent forehead,Long face, Intellectual disability - - Isolated (sporadic) - - - - - Domenico Coviello 00302571
0000229761 Overgrowth - - Isolated (sporadic) - - - - - Domenico Coviello 00302572
0000229762 Overgrowth,long face, intellectual disability - - Isolated (sporadic) - - - - - Domenico Coviello 00302573
0000229763 Behavioral abnormality,long face,macrocephaly,overgrowth - - Isolated (sporadic) - - - - - Domenico Coviello 00302679
0000229808 - - - Isolated (sporadic) - - - - - Domenico Coviello 00302724
0000229905 Macrocephaly, Intellectual disability, Coarctation of aorta - - Isolated (sporadic) - - - - - Domenico Coviello 00302823
0000229915 Long face, Overgrowth - - Isolated (sporadic) - - - - - Domenico Coviello 00302834
0000229924 - - - Isolated (sporadic) - - - - - Domenico Coviello 00302843
0000229925 Poor coordination,Long face, Intellectual disability - - Isolated (sporadic) - - - - - Domenico Coviello 00302844
0000229926 Long face, seizures, - - Isolated (sporadic) - - - - - Domenico Coviello 00302845
0000229927 Behavioral abnormality, intellectual disability, long face,muscular hypotonia , - - Isolated (sporadic) - - - - - Domenico Coviello 00302846
0000229928 Long face, behavioral abnormality, poor coordination, intellectual disability,abnormality of the cardiovascular system,abnormality of the kidney - - Isolated (sporadic) - - - - - Domenico Coviello 00302847
0000229929 Poor coordination, long face - - Isolated (sporadic) - - - - - Domenico Coviello 00302848
0000229931 Long face, intellectual disability, - - Isolated (sporadic) - - - - - Domenico Coviello 00302850
0000229932 Long face, overgrowth - - Isolated (sporadic) - - - - - Domenico Coviello 00302851
0000229933 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249), - - Isolated (sporadic) - - - - - Domenico Coviello 00302852
0000229936 Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00302855
0000229937 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) - - Isolated (sporadic) - - - - - Domenico Coviello 00302856
0000229938 Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079) - - Isolated (sporadic) - - - - - Domenico Coviello 00302857
0000229939 Long face (HP:0000276), Intellectual disability (HP:0001249) - - Complex - - - - - Domenico Coviello 00302858
0000229940 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00302859
0000229941 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00302860
0000229942 Long face (HP:0000276),Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00302862
0000229943 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00302863
0000229944 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) - - Isolated (sporadic) - - - - - Domenico Coviello 00302864
0000229945 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077) - - Isolated (sporadic) - - - - - Domenico Coviello 00302865
0000229946 Postnatal macrocephaly (HP:0005490),Behavioral abnormality(HP:0000708) - - Isolated (sporadic) - - - - - Domenico Coviello 00302867
0000229947 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), - - Isolated (sporadic) - - - - - Domenico Coviello 00302868
0000230165 Behavioral abnormality(HP:0000708), Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Bone overgrowth( HP:0100774), - - Isolated (sporadic) - - - - - Domenico Coviello 00303082
0000230166 Long face (HP:0000276), Intellectual disability (HP:0001249), Abnormality of the cardiovascular system (HP:0001626), Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303083
0000230167 Abnormality of the cardiovascular system (HP:0001626),Hypoplasia of the corpus callosum - - Isolated (sporadic) - - - - - Domenico Coviello 00303084
0000230168 Long face (HP:0000276),Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303085
0000230169 Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303086
0000230175 Long face (HP:0000276), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303091
0000230176 Postnatal macrocephaly (HP:0005490) - - Isolated (sporadic) - - - - - Domenico Coviello 00303092
0000230441 Long face (HP:0000276), Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303363
0000230442 Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303366
0000230443 Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303367
0000230444 Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249), Hypoplasia of the corpus callosum - - Isolated (sporadic) - - - - - Domenico Coviello 00303368
0000230599 Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303522
0000230600 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) - - Isolated (sporadic) - - - - - Domenico Coviello 00303523
0000230601 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00303524
0000230602 Long face (HP:0000276), Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303526
0000230633 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490), - - Isolated (sporadic) - - - - - Domenico Coviello 00303567
0000230635 Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303569
0000230636 Postnatal macrocephaly (HP:0005490),Intellectual disability (HP:0001249),Seizures (HP:0001250),Strabismus (HP:0000486) - - Isolated (sporadic) - - - - - Domenico Coviello 00303570
0000230637 Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303571
0000230638 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303572
0000230639 Long face (HP:0000276),Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303573
0000230640 Long face (HP:0000276), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303574
0000230641 Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303575
0000230642 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00303577
0000230643 Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303578
0000230644 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303579
0000230645 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00303581
0000230646 Long face (HP:0000276),Bone overgrowth( HP:0100774),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303583
0000230647 Behavioral abnormality(HP:0000708),Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303576
0000230668 Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303580
0000230669 Poor motor coordination (HP:0002275),Bone overgrowth( HP:0100774),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303582
0000230670 Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774),Abnormality of the kidney(HP:0000077) - - Isolated (sporadic) - - - - - Domenico Coviello 00303584
0000230671 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00303607
0000230672 Long face (HP:0000276),Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303608
0000230673 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) - - Isolated (sporadic) - - - - - Domenico Coviello 00303609
0000230674 Behavioral abnormality(HP:0000708) ,Poor motor coordination (HP:0002275),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303610
0000230675 Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303611
0000230676 Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303612
0000230677 - - - Unknown - - - - - Domenico Coviello 00303613
0000230678 Long face (HP:0000276) - - Isolated (sporadic) - - - - - Domenico Coviello 00303614
0000230679 Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774) - - Isolated (sporadic) - - - - - Domenico Coviello 00303615
0000230680 Long face (HP:0000276), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303616
0000230681 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303617
0000231024 Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303965
0000231025 Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303966
0000231026 Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303967
0000231027 Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303968
0000231028 Poor motor coordination (HP:0002275),Postnatal macrocephaly (HP:0005490),Infantile muscular hypotonia( HP:0008947) - - Isolated (sporadic) - - - - - Domenico Coviello 00303969
0000231029 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774),Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303970
0000231030 Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Abnormality of the cardiovascular system (HP:0001626) - - Isolated (sporadic) - - - - - Domenico Coviello 00303971
0000231031 - - - Unknown - - - - - Domenico Coviello 00303973
0000231032 Long face (HP:0000276),Bone overgrowth( HP:0100774),Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303974
0000231033 - - - Isolated (sporadic) - - - - - Domenico Coviello 00303975
0000231036 Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303978
0000231037 Long face (HP:0000276),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303979
0000231038 Hypoplasia of the corpus callosum (HP:0002079),Abnormality of the cardiovascular system (HP:0001626),Long face (HP:0000276),Poor motor coordination (HP:0002275) - - Isolated (sporadic) - - - - - Domenico Coviello 00303980
0000231039 - - - Isolated (sporadic) - - - - - Domenico Coviello 00303981
0000231040 Long face (HP:0000276),Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303982
0000231041 Poor motor coordination (HP:0002275),Long face (HP:0000276),Postnatal macrocephaly (HP:0005490) - - Isolated (sporadic) - - - - - Domenico Coviello 00303983
0000231042 Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),Abnormality of the cardiovascular system (HP:0001626),Abnormality of the kidney(HP:0000077) - - Isolated (sporadic) - - - - - Domenico Coviello 00303984
0000231043 - - - Isolated (sporadic) - - - - - Domenico Coviello 00303985
0000231044 Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249),Seizures (HP:0001250) - - Isolated (sporadic) - - - - - Domenico Coviello 00303986
0000231045 Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303987
0000231046 - - - Isolated (sporadic) - - - - - Domenico Coviello 00303988
0000231047 Long face (HP:0000276), Intellectual disability (HP:0001249) - - Isolated (sporadic) - - - - - Domenico Coviello 00303989
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