All individuals with variants in gene COL4A1

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.

93 entries on 1 page. Showing entries 1 - 93.

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	-	-	0	-	-	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
00035316	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035317	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035318	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035319	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035320	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035321	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035322	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035323	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035324	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035325	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035326	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035327	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035328	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035329	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035330	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035331	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035332	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035333	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035334	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035335	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035336	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035337	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035338	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035339	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035340	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035341	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035342	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035343	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	mitochondrial myopathy	1	1	Andreas Laner
00035344	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035345	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035346	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035347	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035348	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035349	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035350	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035351	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035352	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035353	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035354	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035355	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035356	-	-	-	-	-	Germany	-	-	0	-	-	MEOAL	Multiple hemorrhagic porencephalic brain lesions, at birth transient platelet defiency with petechiae, mild facial dysmorphism	1	1	Andreas Laner
00035357	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035358	-	-	-	-	-	Germany	-	-	0	-	-	?	global abnormal development, microcephaly, epilepsy, dystonic movement disorder	1	1	Andreas Laner
00035359	-	-	-	-	-	Germany	-	-	0	-	-	?	global abnormal development, microcephaly, epilepsy, dystonic movement disorder	1	1	Andreas Laner
00035360	-	-	-	-	-	Germany	-	-	0	-	-	?	global abnormal development, microcephaly, epilepsy, dystonic movement disorder	1	1	Andreas Laner
00035361	-	-	-	-	-	Germany	-	-	0	-	-	?	infantile cerebral palsy (status post perinatal brain bleeding, adiposity	1	1	Andreas Laner
00035362	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, speech development disorder	1	1	Andreas Laner
00035363	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035364	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected isolated congenital cataract, autosomal dominant; MGZ #77960: status post stroke 2012, leukoencephalopathy	1	1	Andreas Laner
00035365	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035366	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035367	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035368	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035369	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035370	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035371	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035372	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected mitochondrial myopathia	1	1	Andreas Laner
00035373	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00035374	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035375	-	-	-	-	-	Germany	-	-	0	-	-	?	V.a. genetisch bedingte Anlagestörung	1	1	Andreas Laner
00035376	-	-	-	-	-	Germany	-	-	0	-	-	?	V.a. genetisch bedingte Anlagestörung	1	1	Andreas Laner
00035377	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected abnormal development	1	1	Andreas Laner
00035378	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected abnormal development	1	1	Andreas Laner
00035379	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035380	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035381	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00035382	-	-	-	-	-	Germany	-	-	0	-	-	?	autism, epilepsy	1	1	Andreas Laner
00080979	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	0	-	-	BSVD1;POREN1	Porencephaly 1 (OMIM:175780)	1	1	Daniel Trujillano
00269344	-	-	-	M	-	-	-	-	0	-	-	?	Cerebral hemorrhage (HP:0001342); Cerebral palsy (HP:0100021); Intrauterine growth retardation (HP:0001511)	1	1	Andreas Laner
00269428	-	-	-	M	-	-	-	-	0	-	-	?	Delayed speech and language development (HP:0000750); Joint laxity (HP:0001388); Leukodystrophy (HP:0002415); Hypermetropia (HP:0000540); Global developmental delay (HP:0001263)	1	1	Andreas Laner
00296391	-	-	-	F	-	-	-	-	0	-	-	?	Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Microcephaly (HP:0000252); Abnormal cortical gyration (HP:0002536); Abnormality of the cerebral cortex (HP:0002538); Abnormality of the skull (HP:0000929)	1	1	Andreas Laner
00302980	Pat25	PubMed: Helbig 2016	-	-	-	United States	-	-	0	-	-	seizures	Epileptic Encephalopathy, Infantile Spasms; age onset infantile	1	1	Johan den Dunnen
00308023	Pat2	PubMed: Mahler 2019	2-generation family, 1 affected, unaffected non-carrier parents	-	no	Germany	-	-	0	-	-	?	severe global developmental delay, congenital cataract, microcephaly	1	1	Johan den Dunnen
00311037	-	-	-	F	-	-	-	-	0	-	-	?	Cataract (HP:0000518); Abnormality of the anterior chamber (HP:0000593); Glaucoma (HP:0000501)	1	1	Andreas Laner
00314706	MCA399	PubMed: Slavotinek 2015	-	F	-	United States	-	-	0	-	-	?	see paper; no anophthalmia, no microphthalmia, congenital cataracts, cardiomyopathy, ...	1	1	Johan den Dunnen
00314909	Trio103	PubMed: Zhu 2015	-	M	-	United States	-	-	0	-	-	?	Global developmental delay (cannot hold head up or sit up), microcephaly, infantile spasms, cortical visual impairment, West Syndrome, increased nuchal fold prenatally, history of sinus bradycardia, CSF abnormalities in neurotransmitter metabolites, periventricular calcifications, cereberal atrophy with prominet white matter loss, elevated choline and low N-acetylaspartatate in inferior, frontal, temporal, and parietal lobes bilaterally. Elevated startle reflex, involuntary movements.	1	1	Johan den Dunnen
00363773	G353	PubMed: Huang 2015	family	M	-	China	-	-	0	-	-	glaucoma	see paper; ...	1	1	LOVD
00374272	S-5622	PubMed: Ganapathy 2019	-	-	-	India	-	-	0	-	-	?	Generalized spasticity, more in the lower limbs and mild speech and cognitive deficit, suggestive of hereditary spastic paraplegia	1	1	Johan den Dunnen
00374697	R-0517	PubMed: Ganapathy 2019	-	-	-	India	-	-	0	-	-	?	-	1	1	Johan den Dunnen
00374698	S-498	PubMed: Ganapathy 2019	-	-	-	India	-	-	0	-	-	?	-	1	1	Johan den Dunnen
00374709	R-0100	PubMed: Ganapathy 2019	-	-	-	India	-	-	0	-	-	?	-	1	1	Johan den Dunnen
00382119	236	PubMed: Patel 2019	-	?	-	United Kingdom (Great Britain)	-	-	0	-	-	BSVD1;POREN1	anterior segment developmental anomalies including glaucoma; MIM, 607595	1	1	LOVD
00384477	14778	PubMed: Wang 2019	-	M	-	China	-	-	0	-	-	retinal disease	-	1	1	LOVD
00385458	14001458	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	0	-	-	retinal disease	-	1	1	LOVD
00385467	15000884	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	0	-	-	retinal disease	-	1	1	LOVD
00385502	16024006	PubMed: Lenassi 2020	retrospective analysis	M	-	(United Kingdom (Great Britain))	-	-	0	-	-	retinal disease	-	1	1	LOVD
00385545	18014933	PubMed: Lenassi 2020	retrospective analysis	F	-	(United Kingdom (Great Britain))	-	-	0	-	-	retinal disease	-	1	1	LOVD
00391784	130P	-	-	M	no	Spain	-	-	-	-	-	BSVD1;POREN1, HANAC	-	1	1	Alejandro Brea-Fernández
00392293	188382	-	-	M	?	? (unknown)	-	-	0	-	-	BSVD1;POREN1	Abnormal vascular morphology, Abnormality of the vasculature	1	1	Andreas Laner
00408706	Pat05	PubMed: Thomas 2022	patient, affected brother	-	-	France	-	-	0	-	-	?	-	1	2	Johan den Dunnen
00410552	Pat14	PubMed: Schuermans 2022	analysis 329 adult patients suffering from undiagnosed rare disease	F	-	Belgium	-	-	0	-	-	?	see paper; ..., onset neonatal, polycystic kidney disease, cerebral white matter lesions, depression, anxiety, migraine, family history	1	1	Johan den Dunnen
00410554	Pat16	PubMed: Schuermans 2022	analysis 329 adult patients suffering from undiagnosed rare disease	M	-	Belgium	-	-	0	-	-	?	see paper; ..., onset adulthood, cerebral white matter lesions, hallucinations, psychosis, no family history	1	1	Johan den Dunnen

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Global Variome shared LOVD

COL4A1 (collagen, type IV, alpha 1)