Disease #04599 (SOTOS1 (Sotos syndrome, type 1 (SOTOS-1)), OMIM:117550)

Official abbreviation	SOTOS1
Name	Sotos syndrome, type 1 (SOTOS-1)
OMIM ID	117550
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Digenic recessive
Individuals reported having this disease	136
Phenotype entries for this disease	117
Associated with 1 gene	NSD1
Associated tissues	-
Disease features	characteristic facial appearance, learning disability, overgrowth (height and/or head circumference ⩾98th percentile); advanced bone age; cardiac anomalies; cranial magnetic resonance; imaging or CT abnormalities; hyperlaxity/pes planus; maternal pre-eclampsia; neonatal hypotonia; neonatal jaundice; neonatal poor feeding; renal anomalies; scoliosis; seizures
Remarks	-
Date created	2015-09-23 10:25:23 +02:00 (CEST)
Date last edited	2024-05-23 22:12:11 +02:00 (CEST)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

136 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00080945	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	SOTOS1	Sotos syndrome 1 (OMIM:117550)	NSD1	NSD1	1	1	Daniel Trujillano
00081055	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	SOTOS1	Sotos syndrome 1 (OMIM:117550)	NSD1	NSD1	1	1	Daniel Trujillano
00081819	-	-	-	-	-	Germany	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00269370	-	-	-	M	?	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Aortic root aneurysm HP:0002616	NSD1	NSD1	1	1	Domenico Coviello
00269595	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	Aortic dilatation	NSD1	NSD1	1	1	Domenico Coviello
00269598	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	Aortic dilatation	NSD1	NSD1	1	1	Domenico Coviello
00276093	-	-	-	F	yes	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00276096	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00276100	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00276108	-	-	-	-	-	-	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00276110	-	-	-	M	-	Italy	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00276111	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289364	-	-	-	-	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289365	-	-	-	M	-	Italy	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289366	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289367	-	-	-	M	-	Italy	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289368	-	-	-	M	-	Italy	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00289369	-	-	-	M	-	Italy	-	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00302571	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	Prominent forehead,Long face, Intellectual disability	NSD1	NSD1	1	1	Domenico Coviello
00302572	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Overgrowth	NSD1	NSD1	1	1	Domenico Coviello
00302573	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	Overgrowth,long face, intellectual disability	NSD1	NSD1	1	1	Domenico Coviello
00302574	-	-	-	M	-	(Italy)	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00302679	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	Behavioral abnormality,long face,macrocephaly,overgrowth	NSD1	NSD1	1	1	Domenico Coviello
00302724	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00302823	-	-	-	M	?	Italy	white	-	-	-	-	SOTOS1	Macrocephaly, Intellectual disability, Coarctation of aorta	NSD1	NSD1	1	1	Domenico Coviello
00302834	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Long face, Overgrowth	NSD1	NSD1	1	1	Domenico Coviello
00302843	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00302844	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Poor coordination,Long face, Intellectual disability	NSD1	NSD1	1	1	Domenico Coviello
00302845	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face, seizures,	NSD1	NSD1	2	1	Domenico Coviello
00302846	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Behavioral abnormality, intellectual disability, long face,muscular hypotonia ,	NSD1	NSD1	1	1	Domenico Coviello
00302847	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Poor coordination, long face	NSD1	NSD1	1	1	Domenico Coviello
00302850	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face, intellectual disability,	NSD1	NSD1	1	1	Domenico Coviello
00302851	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face, overgrowth	NSD1	NSD1	1	1	Domenico Coviello
00302852	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Postnatal macrocephaly (HP:0005490),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00302856	-	-	-	F	no	Italy	white	-	-	-	Ivumir	SOTOS1	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	white	-	-	-	-	SOTOS1	Infantile muscular hypotonia( HP:0008947),Hypoplasia of the corpus callosum (HP:0002079)	NSD1	NSD1	1	1	Domenico Coviello
00302858	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00302859	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00302860	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626)	NSD1	NSD1	1	1	Domenico Coviello
00302861	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00302862	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00302863	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00302864	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Postnatal macrocephaly (HP:0005490),Behavioral abnormality(HP:0000708)	NSD1	NSD1	1	1	Domenico Coviello
00302868	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),	NSD1	NSD1	1	1	Domenico Coviello
00302869	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00303082	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Abnormality of the cardiovascular system (HP:0001626),Hypoplasia of the corpus callosum	NSD1	NSD1	1	1	Domenico Coviello
00303085	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303086	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Abnormality of the cardiovascular system (HP:0001626)	NSD1	NSD1	1	1	Domenico Coviello
00303091	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303092	-	-	-	M	no	Australia	white	-	-	-	-	SOTOS1	Postnatal macrocephaly (HP:0005490)	NSD1	NSD1	1	1	Domenico Coviello
00303363	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276), Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00303365	-	-	-	?	-	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00303366	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276), Postnatal macrocephaly (HP:0005490), Seizures (HP:0001250)	NSD1	NSD1	1	1	Domenico Coviello
00303367	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Poor motor coordination (HP:0002275), Bone overgrowth( HP:0100774), Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00303368	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	-	-	-	-	-	SOTOS1	Poor motor coordination (HP:0002275), Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303523	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	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	-	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00303525	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00303526	-	-	-	F	-	Italy	-	-	-	-	-	SOTOS1	Long face (HP:0000276), Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303567	-	-	-	M	no	Italy	-	-	-	-	-	SOTOS1	Long face (HP:0000276),Postnatal macrocephaly (HP:0005490),	NSD1	NSD1	1	1	Domenico Coviello
00303569	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303570	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Postnatal macrocephaly (HP:0005490),Intellectual disability (HP:0001249),Seizures (HP:0001250),Strabismus (HP:0000486)	NSD1	NSD1	1	1	Domenico Coviello
00303571	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Abnormality of the cardiovascular system (HP:0001626)	NSD1	NSD1	1	1	Domenico Coviello
00303573	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303574	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303575	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00303578	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Postnatal macrocephaly (HP:0005490), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303579	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00303580	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00303581	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00303582	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774),Infantile muscular hypotonia( HP:0008947)	NSD1	NSD1	1	1	Domenico Coviello
00303584	-	-	-	M	-	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00303608	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303609	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Behavioral abnormality(HP:0000708) ,Poor motor coordination (HP:0002275),Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303611	-	-	-	F	-	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774),Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303612	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	-	NSD1	NSD1	1	1	Domenico Coviello
00303614	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276)	NSD1	NSD1	1	1	Domenico Coviello
00303615	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Poor motor coordination (HP:0002275),Long face (HP:0000276),Bone overgrowth( HP:0100774)	NSD1	NSD1	1	1	Domenico Coviello
00303616	-	-	-	M	no	Egypt	-	-	-	-	-	SOTOS1	Long face (HP:0000276), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303617	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	-	-	-	-	1	Domenico Coviello
00303965	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	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	white	-	-	-	-	SOTOS1	Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303967	-	-	-	M	no	Italy	white	-	-	-	-	SOTOS1	Poor motor coordination (HP:0002275),Long face (HP:0000276),Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello
00303968	-	-	-	F	no	Italy	white	-	-	-	-	SOTOS1	Long face (HP:0000276),Bone overgrowth( HP:0100774), Intellectual disability (HP:0001249)	NSD1	NSD1	1	1	Domenico Coviello

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

RSPH9 (radial spoke head 9 homolog (Chlamydomonas))