All individuals with variants in gene CUL4B

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.

49 entries on 1 page. Showing entries 1 - 49.

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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00016965	19377133-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016966	19377134-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016967	19377135-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016968	19377136-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016969	19377137-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016970	19377138-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00016971	19377139-Pat?	PubMed: Tarpey 2009	-	M	-	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	-	1	1	Lucy Raymond
00017006	Fam5	PubMed: Tzschach 2015	2-generation family, affected boy and maternal uncle, unaffected heterozygous carrier mother/grandmother	M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, macrocephaly (OFC 60 cm, >97th centile), short stature (height 163 cm, <3rd centile), cryptorchidism, submucous cleft palate surgically corrected, bilateral partial optic atrophy without deleterious effects on vision; maternal uncle similar clinical problems, no cleft palate, no optic atrophy	1	2	Andreas Tzschach
00017007	Fam6	PubMed: Tzschach 2015	2-generation family, 2 affected brothers, unaffected heterozygous carrier mother	M	-	-	?	-	-	-	-	MRX;IDX	moderate intellectual disability, macrocephaly, obesity	1	2	Andreas Tzschach
00017008	Pat14	PubMed: Tzschach 2015	-	M	-	Turkey	?	-	-	-	-	MRX;IDX	intellectual disability, borderline short stature (height 142 cm, 3rd centile), borderline microcephaly (OFC 52 cm, 3rd-10th centile), normal weight (40 kg, 25th centile), body proportions gave impression central obesity; 12y-hearing loss; coarse face, small ears, broad nose, bulbous nasal tip, epicanthus, thick lips, everted lower lip, brachydactyly, bilateral 2/3 toe syndactyly, sandal gap	1	1	Andreas Tzschach
00022446	-	-	-	M	no	Netherlands	white	-	-	yes	-	MRXSC	-	1	3	Anneke Vulto-van Silfhout
00022447	-	-	-	M	?	Germany	-	-	-	yes	-	MRXSC	-	1	3	Anneke Vulto-van Silfhout
00022448	-	-	-	M	-	(France)	-	-	-	-	-	MRXSC	-	1	3	Anneke Vulto-van Silfhout
00022449	-	-	-	M	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00022450	-	-	-	M	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00022451	-	-	-	-	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00022452	-	-	-	M	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00022453	-	-	-	-	-	-	-	-	-	-	-	MRXSC	-	1	2	Anneke Vulto-van Silfhout
00022454	-	-	-	-	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00022455	-	-	-	-	-	-	-	-	-	-	-	MRXSC	-	1	2	Anneke Vulto-van Silfhout
00022456	-	-	-	-	-	-	-	-	-	-	-	MRXSC	-	1	1	Anneke Vulto-van Silfhout
00024220	-	PubMed: Wibley 2010	4-generation family, 7 affecteds, unafected carrier females	M	no	-	-	-	-	-	-	MRX;IDX	moderate ID, nonsyndromic	1	7	Johan den Dunnen
00154950	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Poor speech (HP:0002465); Aggressive behavior (HP:0000718); Relative macrocephaly (HP:0004482)	1	1	IMGAG
00180165	29286531-Pat17	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	-	-	-	?	Epilepsy (in infancy) (HP:0001250), moderate intellectual disability (HP:0002342), short stature (HP:0004322), facial dysmorphism (HP:0001999).	1	1	Johan den Dunnen
00183096	25644381-FamD112	PubMed: Hu 2016	family, 3 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00183097	25644381-FamP142	PubMed: Hu 2016	family, 2 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00183142	25644381-FamD203	PubMed: Hu 2016	family, 3 affected, 3 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00183143	25644381-FamD102	PubMed: Hu 2016	family, 2 affected, 1 unaffected heterozygous carrier female	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00183144	25644381-FamP194	PubMed: Hu 2016	family, 2 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00183145	25644381-FamN146	PubMed: Hu 2016	family, 2 affected, 1 unaffected heterozygous carrier female	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00183146	25644381-FamT131	PubMed: Hu 2016	family, 2 affected, 2 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00183147	25644381-FamD287	PubMed: Hu 2016	family, 2 affected, 3 unaffected heterozygous carrier females	M	-	-	-	-	-	-	-	MRX;IDX	-	1	2	Johan den Dunnen
00271297	ED2150	Ritelli et al., 2020 submitted	-	M	no	Italy	-	-	-	-	-	LFIT2, MRXSC, SOPH	-	1	1	Marco Ritelli
00296771	APN-137	PubMed: Redin 2014	analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother	M	-	France	-	-	-	-	-	ID	severe intellectual disability	1	1	Johan den Dunnen
00302983	Pat28	PubMed: Helbig 2016	-	-	-	United States	-	-	-	-	-	seizures	Fever related seizures; age onset childhood	1	1	Johan den Dunnen
00302984	Pat29	PubMed: Helbig 2016	-	-	-	United States	-	-	-	-	-	seizures	Unclassified epilepsy; age onset childhood	1	1	Johan den Dunnen
00307731	UK10K_FINDWGA5410685	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307732	UK10K_FINDWGA5411353	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307733	UK10K_FINDWGA5410803	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307734	UK10K_FINDWGA5411451	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307735	UK10K_FINDWGA5411038	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00374287	S-2427	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Neuroregression, global developmental delay, autistic features and mild dysmorphism.	1	1	Johan den Dunnen
00374707	S-2834	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00387775	M8600013	PubMed: Hu 2019	family, 3 affected individuals, first cousin parents	-	yes	-	Turkmenistan	-	-	-	-	ID	syndromic intellectual disability, no microcephaly	1	3	Johan den Dunnen
00414789	203088	-	-	M	no	Germany	-	-	-	-	-	MRXSC	Intellectual disability, mild, Sleep disturbance, Lipoma, EEG abnormality, Seizure	1	1	Andreas Laner
00440346	Pat10;PED1314.1	PubMed: Thevenon 2016, PubMed: Nambot 2018	family, several affected	M	-	France	-	-	-	-	-	NDD	epilepsy	1	1	Johan den Dunnen
00449827	-	-	-	M	-	- (not applicable)	white	-	-	-	-	autism	HP:0000717, HP:0002342, HP:0001250, HP:0000256	1	1	Marketa Wayhelova

Legend

How to query

Global Variome shared LOVD

CUL4B (cullin 4B)