All individuals with variants in gene SMARCC2

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.

61 entries on 1 page. Showing entries 1 - 61.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00183691	27620904-Pat36	PubMed: Martinez 2017, Journal: Martinez 2017	-	-	-	Spain	-	-	-	-	-	ID	severe developmental delay; absence of language; behavioral abnormalities; hypotonia; seizures; no movement disorder; MRI normal; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; hypertrichosis; thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; kyphosis; no ardiovascular abnormality; no inguinal hernia; no skin problems	1	1	Johan den Dunnen
00210696	30580808-Pat1	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	mild developmental delay; no speech impairment; no behavioral abnormalities ; hypotonia; no seizures; no movement disorder; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; n/a; no inguinal hernia; no skin problems	1	1	Johan den Dunnen
00210697	30580808-Pat2	PubMed: Machol 2018	affected father/son	M	-	-	-	-	-	-	-	?	mild developmental delay; speech delay; behavioral abnormalities; spasticity; no seizures; movement disorder; MRI two discrete hyperintens white matter lesions; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hypo pigmented hair, cafe au lait macules	1	2	Johan den Dunnen
00210698	30580808-Pat3	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	mild developmental delay; no speech impairment; behavioral abnormalities; hypotonia; no seizures; no movement disorder; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; no skin problems	1	1	Johan den Dunnen
00210699	Pat5;Pat125	PubMed: Machol 2018, PubMed: Chen 2022	-	M	-	-	-	-	-	-	-	?	severe developmental delay; absence of language; behavioral abnormalities; hypotonia, spasticity; seizures; no movement disorder; MRI thinning of corpus callosum and splenium, periventricular white matter loss; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; scoliosis; inguinal hernia; undescended testis; eczema	1	1	Johan den Dunnen
00210700	30580808-Pat6	PubMed: Machol 2018	-	F	-	-	-	-	-	-	-	?	severe developmental delay; absence of language; no behavioral abnormalities ; hypotonia; no seizures; movement disorder; MRI generalized cerebral atrophy, hypointensity globus pallidus; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; no hypertrichosis; thick eyebrows; no long eyelashes; ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; scoliosis; left coronary distension; no inguinal hernia; eczema, scleroderma	1	1	Johan den Dunnen
00210701	30580808-Pat7	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	severe developmental delay; absence of language; behavioral abnormalities; hypotonia; seizures; no movement disorder; MRI generalized cerebral atrophy, hypo-myelination; failure to thrive; sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; thick eyebrows; no long eyelashes; ptosis; no thin upper lip vermilion; thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; scoliosis; non-progressive mild aortic dilatation (Z score=2.54).; inguinal hernia; undescended testis; no skin problems	1	1	Johan den Dunnen
00210702	30580808-Pat8	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	severe developmental delay (DQ=20); absence of language; behavioral abnormalities; hypotonia; no seizures; no movement disorder; MRI normal; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; inguinal hernia; no undescended testis; no skin problems	1	1	Johan den Dunnen
00210703	Pat9;Pat127	PubMed: Machol 2018, PubMed: Chen 2022	-	M	-	-	-	-	-	-	-	?	moderate intellectual disability; absence of language; no behavioral abnormalities ; hypotonia; no seizures; no movement disorder; MRI normal; failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; hypertrichosis; thick eyebrows; long eyelashes; no ptosis; thin upper lip vermilion; thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; hypo-melanotic macula	1	1	Johan den Dunnen
00210704	Pat74;Pat10	PubMed: Zhu 2015, PubMed: Machol 2018	-	M	-	United States	-	-	-	-	-	?	moderate developmental delay, moderate-severe ID; minimal speech; no behavioral abnormalities ; hypotonia; no seizures; no movement disorder; MRI normal; failure to thrive; sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; long eyelashes; ptosis; no thin upper lip vermilion; no thick lower lip vermilion; abnormal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; vitiligo (present in unaffected father)	1	1	Johan den Dunnen
00210705	30580808-Pat11	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	moderate-severe developmental delay; absence of language; no behavioral abnormalities ; no hypotonia; seizures; no movement disorder; MRI abnormal corpus callosum; no failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; no hypertrichosis; thick eyebrows; long eyelashes; ptosis; no thin upper lip vermilion; thick lower lip vermilion; abnormal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hyper pigmented irregular skin on back	1	1	Johan den Dunnen
00210706	30580808-Pat12	PubMed: Machol 2018	-	F	-	-	-	-	-	-	-	?	moderate developmental delay, moderate intellectual disability; speech delay; behavioral abnormalities; hypotonia; no seizures; no movement disorder; MRI slightly small corpus callosum, prominent perivascular spaces; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; thin upper lip vermilion; no thick lower lip vermilion; normal palate; nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; scoliosis; no ardiovascular abnormality; no inguinal hernia; eczema	1	1	Johan den Dunnen
00210707	30580808-Pat13	PubMed: Machol 2018	-	M	-	-	-	-	-	-	-	?	moderate-severe developmental delay; speech delay; behavioral abnormalities; hypotonia; no seizures; no movement disorder; MRI normal; no failure to thrive; no sucking/feeding difficulty; no thin/sparse scalp hair; hypertrichosis; no thick eyebrows; long eyelashes; no ptosis; thin upper lip vermilion; thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; n/a; no inguinal hernia; no undescended testis; no skin problems	1	1	Johan den Dunnen
00210708	30580808-Pat14	PubMed: Schön 2006	-	M	-	-	-	-	-	-	-	?	mild intellectual disability; speech delay; behavioral abnormalities; hypotonia; no seizures; no movement disorder; MRI normal; failure to thrive; sucking/feeding difficulty; no thin/sparse scalp hair; hypertrichosis; thick eyebrows; long eyelashes; ptosis; no thin upper lip vermilion; no thick lower lip vermilion; abnormal palate; no nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; no skin problems	1	1	Johan den Dunnen
00210709	30580808-Pat15	PubMed: Schön 2006	-	M	-	-	-	-	-	-	-	?	mild developmental delay; speech abnormalities; behavioral abnormalities; hypotonia; no seizures; no movement disorder; no failure to thrive; sucking/feeding difficulty; no thin/sparse scalp hair; no hypertrichosis; no thick eyebrows; no long eyelashes; no ptosis; no thin upper lip vermilion; no thick lower lip vermilion; normal palate; no nose upturned/anteverted nostrils; no 5th finger or toe/nails abnormaliy; no scoliosis; no inguinal hernia; no skin problems	1	1	Johan den Dunnen
00434647	patient	PubMed: Yi 2022	2-generation family, 1 affected, unaffected non carrier parents	F	-	China	-	-	-	-	-	CSS	see paper; ..., feeding difficulty, dysphagia, vomiting, hypotonia, delayed mental development	1	1	Johan den Dunnen
00434648	F6	PubMed: Carss 2014	affected fetus	F	-	United Kingdom (Great Britain)	-	-	-	-	-	?	abdominal situs inversus (HP:0003363); asplenia (HP:0001746); abnormality of the liver (HP:0001392); right atrial isomerism (HP:0011536); abnormality of the left ventricle (HP:0001711); abnormality of the coronary sinus (HP:0011642); ventricular septal defect (HP:0001629); atrioventricular canal defect (HP:0006695); double outlet right ventricle (HP:0001719); abnormality of the pulmonary veins (HP:0011718); right aortic arch (HP:0012020); persistent left superior vena cava (HP:0005301); abnormality of the heart (HP:0001627); small chin (HP:0000331); flat forehead (HP:0004425); flat nose (HP:0000457); micrognathia (HP:0000347); abnormality of the head (HP:0000234); hypoplasia of the thymus (HP:0000778); bilateral trilobed lungs (HP:0011861)	1	1	Johan den Dunnen
00434649	patient	PubMed: Neale 2012	-	-	-	-	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00434655	Pat1	PubMed: Li 2022	-	F	-	United States	-	-	-	-	-	CSS	see paper; ..., severe developmental delay, 4y-walk; 8y-no speech; short stature; hypotonia; thin corpus callosum; seizures; macrocephaly; hypertelorism	1	1	Johan den Dunnen
00434656	patient	PubMed: Li 2022	adopted	F	-	United States	-	-	-	-	-	CSS	see paper; ..., severe developmental delay, 14y-not walking independently; 14y-no speech; short stature; hypotonia; early-onset seizures; no macrocephaly; no hypertelorism	1	1	Johan den Dunnen
00434781	Pat123	PubMed: Chen 2022	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434782	Pat124	PubMed: Chen 2022	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434783	Pat126	PubMed: Chen 2022	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434808	?;Pat5	PubMed: Scott 2022, PubMed: Gofin 2022	2-generation family, deceased fetus, unaffected non carrier parents	F	-	United States	-	<00y00m00d	-	-	-	CSS	-	1	1	Johan den Dunnen
00434809	twins	PubMed: Lo 2022	2-generation family, affected twin pair, unaffected carrier mother/sister	M	-	Japan	-	-	-	-	-	autism	-	1	1	Johan den Dunnen
00434810	Pat18	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434811	Pat7	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	milder symptoms	1	1	Johan den Dunnen
00434812	Pat8	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	milder symptoms	1	1	Johan den Dunnen
00434813	Pat43	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	milder symptoms	1	1	Johan den Dunnen
00434814	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434815	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434816	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434817	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434818	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434819	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434820	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434821	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434822	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434823	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434824	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434825	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434826	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434827	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434828	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434829	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434830	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434831	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434832	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434833	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434834	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434835	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434836	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434837	-	Journal: Bosch 2023	family, 5 affected sibs	-	-	-	-	-	-	-	-	NDD	-	1	5	Johan den Dunnen
00434838	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434839	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434840	-	Journal: Bosch 2023	family, 2 affected sibs	-	-	-	-	-	-	-	-	NDD	-	1	2	Johan den Dunnen
00434841	-	Journal: Bosch 2023	sib	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434842	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434843	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00434844	-	Journal: Bosch 2023	-	-	-	-	-	-	-	-	-	NDD	-	1	1	Johan den Dunnen
00464038	twins	PubMed: Li 2025	2-generation family, affected twin pair, unaffected heterozygous carrier parents	M	no	China	-	-	-	-	-	NDD	see paper; ..., 3y-moderate developmental delay, moderate intellectual disability, language delay (could not speak long or complex sentences); epilepsy (3y, 18y), cryptorchidism; 13y-strabismus; prominent forehead, small left eye, epicanthus, low-set ears, wide nose, thick lower lip	1	2	Johan den Dunnen

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