Disease #00860 (NTD (neural tube defects, susceptibility to (NTD)), OMIM:182940)

Official abbreviation	NTD
Name	neural tube defects, susceptibility to (NTD)
OMIM ID	182940
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	88
Phenotype entries for this disease	63
Associated with 5 genes	CCL2, FUZ, T, VANGL1, VANGL2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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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Operator	Column type	Example	Matches
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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'
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!=""	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'

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88 entries on 1 page. Showing entries 1 - 88.

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
00057254	-	-	-	M	no	Italy	-	-	-	-	-	NTD	-	TNIP1	TNIP1	1	1	Eugenio Sangiorgi
00057255	-	-	-	M	no	Italy	-	-	-	-	-	NTD	-	TNIP1	TNIP1	1	1	Eugenio Sangiorgi
00100372	-	-	-	-	-	-	-	-	-	-	-	NTD	Myelomeningocele	GRHL3	GRHL3	1	8	Philippe Lemay
00100500	-	-	-	F	yes	-	-	-	-	-	-	NTD	1 Child has Cleft lip/palate, scoliosis 1 Child has Renal cyst, scoliosis	GRHL3	GRHL3	1	2	Philippe Lemay
00100501	-	-	-	M	?	-	-	-	-	-	-	NTD	Myelomeningocele with renal cyst and scoliosis	GRHL3	GRHL3	1	1	Philippe Lemay
00100502	-	-	-	F	?	-	-	-	-	-	-	NTD	Myelomeningocele	GRHL3	GRHL3	1	1	Philippe Lemay
00100503	-	-	-	F	?	-	-	-	-	-	-	NTD	Myelomeningocele	GRHL3	GRHL3	1	1	Philippe Lemay
00100504	-	-	-	M	?	Italy	-	-	-	-	-	NTD	Myelomeningocele	GRHL3	GRHL3	1	1	Philippe Lemay
00100505	-	-	-	F	?	Italy	-	-	-	-	-	NTD	Myelomeningocele	GRHL3	GRHL3	1	1	Philippe Lemay
00100506	-	-	-	F	?	Italy	-	-	-	-	-	NTD	Myelomeningocele with neurogenic bladder	GRHL3	GRHL3	1	1	Philippe Lemay
00106647	-	-	-	F	-	China	Chinese	-	-	-	-	NTD	Neural tube defects; Anencephalus, occipital cervical thoracic lumbal spinal bifida aperta, left eye exophthalmos, lung lobe deformity	DACT1	DACT1	1	1	Yunping Lei
00106648	-	-	-	F	-	China	Chinese	-	-	-	-	NTD	Neural tube defects; Complete anencephalus, whole spinal bifida aperta; absence of neck; thorax deformity; both upper limb overlength; lung lobe deformity (both lungs deformity of having one lobe each), atelectasis	DACT1	DACT1	1	1	Yunping Lei
00106649	-	-	-	F	-	China	Chinese	-	-	-	-	NTD	Neural tube defects; Anencephalus, cervial occipital spina bifida aperta; atrial septal defect; left lung lobe deformity; bilateral adrenal dysplasia; atelectasis	DACT1	DACT1	1	1	Yunping Lei
00106650	-	-	-	F	-	China	Chinese	-	-	-	-	NTD	Neural tube defects	DACT1	DACT1	1	1	Yunping Lei
00106651	-	-	-	-	-	China	Chinese	-	-	-	-	NTD	Neural tube defects	DACT1	DACT1	1	1	Yunping Lei
00107757	-	-	-	M	-	China	Han Chinese	-	-	-	-	NTD	anencephaly; neural tube defects	SEC24B	SEC24B	1	1	Hongyan Wang
00107758	-	-	-	F	-	China	Chinese	-	-	-	-	NTD	lumbosacral myelomenigocele, hydrocephalus; neural tube defects	SEC24B	SEC24B	1	1	Hongyan Wang
00107759	-	-	-	M	-	China	Chinese	-	-	-	-	NTD	occipital encephalocele, bilateral atelectasis, visceral congestion; neural tube defects	SEC24B	SEC24B	1	1	Hongyan Wang
00107760	-	-	-	M	-	China	Chinese	-	-	-	-	NTD	lumbosacral myelocystocele, talipes equinovarus, lung lobe branching malformation, chest deformity; neural tube defects	SEC24B	SEC24B	1	1	Hongyan Wang
00107853	-	-	-	M	-	Italy	Italian	-	-	-	-	NTD	Myelomeningocele	FZD3	FZD3	1	1	Patrizia De Marco
00107855	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	Lumbo-sacral MMC, Chiari malformation type II, hydrocephalus, hydromyelia, low spinal cord, severe scoliosis, paraparesis, genitourinary abnormalities.	FZD3	FZD3	1	1	Patrizia De Marco
00107856	-	-	-	M	-	Italy	Italian	-	-	-	-	NTD	Myelomeningocele	FZD3	FZD3	1	1	Patrizia De Marco
00107858	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux	FZD6	FZD6	3	1	Patrizia De Marco
00107859	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	Lumbo-sacral LipoMMC	FZD6	FZD6	3	1	Patrizia De Marco
00107861	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	Myelomeningocele and hydrocephalus	FZD6	FZD6	1	1	Patrizia De Marco
00107863	-	-	Maternal third-degree relative has open Neural Tube DefectTD; parents are first- degree cousins.	F	yes	Italy	Italian	-	-	-	-	NTD	Lumbo-sacral myelomeningocele, hydrocephalus	FZD6	FZD6	1	1	Patrizia De Marco
00107864	-	-	-	M	-	Canada	white	-	-	-	-	NTD	MMC, sphincteric incontinence, neurogenic bladder	FZD6	FZD6	1	1	Patrizia De Marco
00107865	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	MMC, Chiari malformation type II	FZD6	FZD6	1	1	Patrizia De Marco
00107866	-	-	-	M	-	Italy	Italian	-	-	-	-	NTD	sacral agenesis, spondilo-costal dysplasia, meningocele, tethered cord, hydromyelia, club foot, left kidney agenesis, convex dorso-lumbar scoliosis	FZD6	FZD6	1	1	Patrizia De Marco
00107868	-	-	-	F	-	Italy	Italian	-	-	-	-	NTD	Right anterior thoracic-MC, hydromyelia, intra-dural lipoma, spondilo-costal dysplasia, complex scoliosis	FZD6	FZD6	1	1	Patrizia De Marco
00107870	-	-	maternal aunt died for hydrocephalus	-	-	Canada	white	-	-	-	-	NTD	Occipital encephalocele	FZD6	FZD6	1	1	Patrizia De Marco
00107871	-	-	-	M	-	Canada	white	-	-	-	-	NTD	Meningocele, dermal sinus, tethered cord	FZD6	FZD6	1	1	Patrizia De Marco
00108621	-	submitted, EJHG	two affected sibs, detected prenatally	M	no	United States	-	-	-	-	-	NTD	this is an affected male fetus with spina bifida, rib abnormalities along with other minor abnormalities noted; a second fetus to the same parents had the same features	-	APAF1	2	2	Michael Friez
00117541	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117549	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117554	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117557	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117558	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117559	-	-	-	-	-	-	-	-	-	-	-	NTD	spinal bifida;neural tube defects	SCRIB	SCRIB	1	1	Yunping Lei
00117790	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117791	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117794	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117795	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117796	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117798	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117799	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117800	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117801	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117804	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117810	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117812	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00117817	-	-	-	-	?	United States	-	-	-	-	-	NTD	myelomeningocele	CELSR1	CELSR1	1	1	Yunping Lei
00165298	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165300	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165301	-	PubMed: Lei 2019, Journal: Lei 2019	-	?	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165302	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165303	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165304	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165307	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165308	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165309	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165310	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165311	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00165312	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174404	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174405	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174406	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174407	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174408	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174409	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174410	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174411	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174412	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174413	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00174414	-	PubMed: Lei 2019, Journal: Lei 2019	-	-	-	-	China	-	-	-	-	NTD	-	PTK7	PTK7	1	1	Yunping Lei
00240064	-	-	-	-	-	United States	-	-	-	-	-	NTD	myelomeningocele	LRP6	LRP6	1	1	Yunping Lei
00240065	-	-	-	-	-	United States	-	-	-	-	-	NTD	myelomeningocele	LRP6	LRP6	1	1	Yunping Lei
00240066	-	-	myelomeningocele	-	-	United States	-	-	-	-	-	NTD	-	LRP6	LRP6	1	1	Yunping Lei
00240067	-	-	-	-	-	United States	-	-	-	-	-	NTD	myelomeningocele	LRP6	LRP6	1	1	Yunping Lei
00305389	153960	-	-	F	?	Germany	-	-	-	-	-	NTD	Spina bifida	PKP2	PKP2	1	1	Andreas Laner
00416321	Pat4	PubMed: Han 2022	analysis 140 isolated spina bifida cases	F	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Yunping Lei
00416322	Pat8	PubMed: Han 2022	analysis 140 isolated spina bifida cases	F	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Yunping Lei
00419201	Pat1	PubMed: Han 2022	analysis 140 isolated spina bifida cases	M	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Johan den Dunnen
00419202	Pat2	PubMed: Han 2022	analysis 140 isolated spina bifida cases	M	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Johan den Dunnen
00419203	Pat3/7	PubMed: Han 2022	analysis 140 isolated spina bifida cases	M	-	-	-	-	-	-	-	NTD	-	CIC	CIC	2	1	Johan den Dunnen
00419204	Pat5	PubMed: Han 2022	analysis 140 isolated spina bifida cases	M	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Johan den Dunnen
00419205	Pat6	PubMed: Han 2022	analysis 140 isolated spina bifida cases	M	-	-	-	-	-	-	-	NTD	-	CIC	CIC	1	1	Johan den Dunnen
00434790	twins	PubMed: Mutairi 2018	family, monozygotic twin pair	F	-	Saudi Arabia	-	-	-	-	-	NTD	see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney	-	SMARCC1	1	2	Johan den Dunnen

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Global Variome shared LOVD

SMARCA1 (SWI/SNF related, matrix associated, actin ...)