Disease #00157 (NCBRS (Nicolaides-Baraitser syndrome (NCBRS)), OMIM:601358)

Official abbreviation	NCBRS
Name	Nicolaides-Baraitser syndrome (NCBRS)
OMIM ID	601358
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	94
Phenotype entries for this disease	62
Associated with 1 gene	SMARCA2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-06-27 15:22:58 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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

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\|	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
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>=	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
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Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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94 entries on 1 page. Showing entries 1 - 94.

Legend

How to query

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
00001508	Pat13	PubMed: Santen 2013	-	F	-	-	-	-	-	-	-	NCBRS	brith 38w, weight SD -2.5, OFC 30 cm; villous atrophy on intestinal biopsy (7m) with no celiac disease antibodies; MRI-brain TAC reported as normal; myopia 2D (HP:0000545); generalized hypotonia; feeding problems 6m; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small nails (-HP:0001792); no delayed bone age (-HP:0003799); prominent distal phalanges;; joint laxity (HP:0001388); villous atrophy; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); myopia (HP:0000545);	ARID1B, SMARCA2	SMARCA2	1	1	Gijs Santen
00001515	Pat22	PubMed: Santen 2013	-	F	-	-	-	-	-	-	-	NCBRS	brith 40w, weight SD -1.8, OFC 34 cm; advanced paternal age IVF pregnancy; seizures low frequency; generalized hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); mild intellectual disability; sparse scalp hair (HP:0002209); abnormal eyebrow (HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); corpus callosum agenesis (HP:0001274); myopia (HP:0000545);	ARID1B, SMARCA2	SMARCA2	3	1	Gijs Santen
00001544	Pat52	PubMed: Santen 2013	-	M	-	-	-	-	-	-	-	NCBRS	brith post term, weight SD 1; hair microscopy normal,Rarely sweats,Never had nails cut.,Reduced subcutaneous fat,Fetal pads,Long toes with bulbous tips,Coarse face; MRI-brain Increased perivascular spaces; seizures, initially just loss of consciousness, 2y6m 1st generalised tonic-clonic seizure; seizures onset 2y, 1 per 2m; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250), generalized tonic-clonic seizures (HP:0002069); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; active, tries to escape, erratic, no sense of danger, 8y-eating excessively, sleeps little, 10y-obsessive, does not like clothes; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); diarrhoea,umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no agenesis corpus callosum (-HP:0001274);	ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1	ARID1A, ARID1B, SMARCA2, SMARCA4	14	1	Gijs Santen
00001545	Pat53	PubMed: Santen 2013	-	F	-	-	-	-	-	-	-	NCBRS	brith 38w, weight SD -2.3, OFC 31.8 cm (9th centile); Hair microscopy normal, short anagen cycle,Sensitive to the sun. reduced sweating. Overheats.,Skin biopsy normal ie not cockayne,Reduced subcutaneous fat,Family history of x-linked ichthyosis,STS normal,Fetal pads on feet,Long fingers and toes,Red palms,Coarse face,EEG normal / west syndrome; one fused canine; MRI-brain Normal / reduced white matter / immature myelin; seizures onset 9m; generalized tonic-clonic seizures (HP:0002069); severe speech delay (HP:0000750); moderate intellectual disability; stubborn; anteverted nares (HP:0000463); wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156);; no hypoplastic phalanges fingers/toes; constipation; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483);	ARID1B, SMARCA4, SMARCB1	SMARCA2	1	1	Gijs Santen
00047976	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047977	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047978	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047979	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047980	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047981	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047982	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047983	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047984	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047985	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047986	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047987	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047988	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047989	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047990	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047991	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047992	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047993	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047994	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047995	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047996	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047997	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047998	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00047999	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00048000	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00048001	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00048002	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00048003	-	-	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	SIB - Livia Famiglietti
00174119	Pat19	PubMed: Tsurusaki 2012, PubMed: Sousa 2014	-	-	-	Japan	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174120	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174121	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174122	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174123	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174124	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174125	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174126	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174127	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174128	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174129	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174131	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174132	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174133	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174134	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174135	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174136	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174137	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174138	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174139	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174140	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174141	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174142	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174143	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174144	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174145	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174146	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174147	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174148	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174149	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174150	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174151	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174152	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174153	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174154	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174155	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174156	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174157	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174158	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174159	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174160	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174161	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174162	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174163	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174164	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174165	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174166	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174167	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174168	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174169	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174170	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174171	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174172	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174173	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174174	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174175	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174176	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174177	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174178	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00174179	-	PubMed: Sousa SB 2014	-	-	-	-	-	-	-	-	-	NCBRS	-	SMARCA2	SMARCA2	1	1	Julia Lopez
00318130	171343	-	-	F	-	Germany	-	-	-	-	-	NCBRS	clinical suspicion of Nicolaides-Baraitser syndrome or Coffin-Siris syndrome, developmental delay, IQ between 63 and 71, microcephaly, facial dysmorphia, peripheral pulmonary stenosis, PDA, PFO, muscle hypotension	SMARCA2	SMARCA2	1	1	Andreas Laner
00449857	-	-	-	M	-	- (not applicable)	white	-	-	-	-	NCBRS	HP:0008070, HP:0012758, HP:0011968, HP:0011297	-	SMARCA2	1	1	Marketa Wayhelova

Legend

How to query

Global Variome shared LOVD

IVD (isovaleryl-CoA dehydrogenase)