Disease #00356 (MCOP (anoophthalmia/microphthalmia))

Official abbreviation	MCOP
Name	anoophthalmia/microphthalmia
OMIM ID	-
Inheritance	-
Individuals reported having this disease	137
Phenotype entries for this disease	137
Associated with 1 gene	GDF6
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-03-14 18:41:31 +01:00 (CET)
Date last edited	2025-11-23 21:29:13 +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.

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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'
!=""	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'

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137 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

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
00060206	Fam9PatII1/2	PubMed: Prokudin 2014	2-generation family, affected sister/brother	-	-	Australia	-	-	-	-	-	MCOP	coloboma, iris/fundal; microphthalmia	BFSP1	BFSP1, CYP1B1	3	2	Ivan Prokudin
00060207	Fam11PatII1	PubMed: Prokudin 2014	2-generation family, 1 affected	M	-	Australia	India	-	-	-	-	MCOP	colobomas, iris/fundal; microphthalmia	BFSP1	BFSP1, CYP1B1, GDF3	4	1	Ivan Prokudin
00065004	-	PubMed: Reis 2010, Journal: Reis 2010	-	-	no	-	white	-	-	-	-	MCOP	lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc	FOXE3	FOXE3	2	1	Deepti Anand
00065005	-	PubMed: Reis 2010, Journal: Reis 2010	-	-	-	-	white	-	-	-	-	MCOP	lens defects, microphthalmia and sclerocornea; absence of iris, lens and optic disc	FOXE3	FOXE3	1	1	Deepti Anand
00065007	-	PubMed: Reis 2010, Journal: Reis 2010	-	-	-	Bangladesh	-	-	-	-	-	MCOP	aphakia, abnormal anterior segment of the eye, dysplastic irides, microphthalmia, sclerocornea	FOXE3	FOXE3	1	1	Deepti Anand
00065008	-	PubMed: Reis 2010, Journal: Reis 2010	-	-	-	-	-	-	-	-	-	MCOP	aphakia, corneal opacity, glaucoma, microphthalmia	FOXE3	FOXE3	1	1	Deepti Anand
00065009	-	PubMed: Reis 2010, Journal: Reis 2010	-	-	-	-	white	-	-	-	-	MCOP	absence of anterior segment, corneal opacity, coloboma, glaucoma, microphthalmia	FOXE3	FOXE3	1	1	Deepti Anand
00151411	-	-	-	F	no	-	-	-	-	-	-	MCOP	microphthalmia (HP:0000568)	-	PXDN	1	1	Celia Zazo-Seco
00332073	F1‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332074	F2‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332075	F3‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332076	F4‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332077	F5‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332078	F6‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH1A3	ALDH1A3	1	1	LOVD
00332079	F7‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	ALDH6A1	ALDH6A1	1	1	LOVD
00332080	F8‐M	PubMed: Patel 2017	patient	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	C12orf57	C12orf57	1	1	LOVD
00332081	F9‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	C12orf57	C12orf57	1	1	LOVD
00332082	F10‐M	PubMed: Patel 2017	patient	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	C12orf57	C12orf57	1	1	LOVD
00332083	F11‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	C12orf57	C12orf57	1	1	LOVD
00332084	F12‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	C12orf57	C12orf57	2	1	LOVD
00332085	F13‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	intellectual disability, mild microphthalmia, coloboma, microcornea	CNKSR1	CNKSR1	1	1	LOVD
00332086	F14‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	microphthalmia, microcornea, cataract	CRYAA	CRYAA	1	1	LOVD
00332087	F15‐M	PubMed: Patel 2017	patient	-	no	Saudi Arabia	-	-	-	-	-	MCOP	hypoplastic columella, flat nasal bridge, micropenis, colobomatous microphthalmia	DSC3	DSC3	1	1	LOVD
00332088	F16‐M	PubMed: Patel 2017	patient, unaffected heterozygous carrier mother	-	no	Saudi Arabia	-	-	-	-	-	MCOP	mild microphthalmia, choroido-retinal atrophy, inferior choroidal coloboma, poorly defined optic disc	GDF3	GDF3	1	1	LOVD
00332089	F17‐M	PubMed: Patel 2017	patient	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	KMT2D	KMT2D	1	1	LOVD
00332090	F18‐M	PubMed: Patel 2017	patient	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	LAMB2	LAMB2	1	1	LOVD
00332091	F19‐M	PubMed: Patel 2017	patient	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	MAB21L2	MAB21L2	1	1	LOVD
00332092	F20‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332093	F21‐Pm	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332094	F22‐PM	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332095	F23‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332096	F24‐PM	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332097	F25‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	MFRP	MFRP	1	1	LOVD
00332098	F26‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	colobomatous microphthalmia	MYO10	MYO10	1	1	LOVD
00332099	F27‐M	PubMed: Patel 2017	patient	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	OTX2	OTX2	1	1	LOVD
00332100	F28‐M	PubMed: Patel 2017	patient	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	OTX2	OTX2	1	1	LOVD
00332101	F29‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	microphthalmia, anterior segment dysgenesis	PAX6	PAX6	1	1	LOVD
00332102	F30‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PITX3	PITX3	1	1	LOVD
00332103	F31‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332104	F32‐PM	PubMed: Patel 2017	family	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332105	F33‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332106	F34‐PM	PubMed: Patel 2017	family	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332107	F35‐PM	PubMed: Patel 2017	family	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332108	F36‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332109	F37‐PM	PubMed: Patel 2017	family	-	no	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332110	F38‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332111	F39‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332112	F40‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332113	F41‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332114	F42‐PM	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332115	F43‐PM	PubMed: Patel 2017	patient	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	PRSS56	PRSS56	1	1	LOVD
00332116	F44‐M	PubMed: Patel 2017	family	-	-	Saudi Arabia	-	-	-	-	-	MCOP	-	PXDN	PXDN	1	1	LOVD
00332117	F45‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	PXDN	PXDN	1	1	LOVD
00332118	F46‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	RAB3GAP1	RAB3GAP1	1	1	LOVD
00332119	F47‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	RAB3GAP1	RAB3GAP1	1	1	LOVD
00332120	F48‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	RAB3GAP1	RAB3GAP1	1	1	LOVD
00332121	F49‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	RAB3GAP2	RAB3GAP2	1	1	LOVD
00332122	F50‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	SCLT1	SCLT1	1	1	LOVD
00332123	F51‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	SIX6	SIX6	1	1	LOVD
00332124	F52‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	global developmental delay, failure to thrive, epilepsy, microcephaly, severe microphthalmia	SLC18A2	SLC18A2	1	1	LOVD
00332125	F53‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	STRA6	STRA6	1	1	LOVD
00332126	F54‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	STRA6	STRA6	1	1	LOVD
00332127	F55‐M	PubMed: Patel 2017	patient	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	TBC1D32	TBC1D32	1	1	LOVD
00332128	F56‐M	PubMed: Patel 2017	family	-	yes	Saudi Arabia	-	-	-	-	-	MCOP	-	TENM3	TENM3	1	1	LOVD
00332129	F57‐M	PubMed: Patel 2017	2-generation family, affected brother/sister	F;M	yes	Saudi Arabia	-	-	-	-	-	MCOP	colobomatous microphthalmia	ZNF219	ZNF219	1	1	LOVD
00336030	-	PubMed: Seese 2021, Journal: Seese 2021	2 generation family with 1 affected child (compound heterozygote), unaffected parents (parents not tested for variants)	F	-	-	South Asian	-	-	-	-	MCOP	HP:0000568; HP:0000589; HP:0000519	-	MAB21L1	2	1	Sarah Seese
00336031	-	PubMed: Seese 2021, Journal: Seese 2021	2 generation family: affected child (compound heterozygote) and unaffected parents (one carries coding, other carries noncoding variant)	F	-	Australia	white	-	-	-	-	MCOP	HP:0000568; HP:0000589	-	MAB21L1	2	1	Sarah Seese
00426470	Fam1Pat1A	PubMed: Reis 2021,	3-generation family, affected mother/daughter	F	-	United States	-	-	-	-	-	MCOP	left eye microphthalmia; fragile hair	-	PRR12	1	2	Johan den Dunnen
00426471	FamPatB	PubMed: Reis 2021	daughter	F	-	United States	-	-	-	-	-	MCOP	left eye Peters Anomaly, microphthalmia; right eye hyperopia; bilateral nystagmus; mild developmental delay/learning difficulties	PRR12	PRR12	1	1	Johan den Dunnen
00426472	Pat2	PubMed: Reis 2021	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	MCOP	bilateral iris coloboma, nystagmus and foveal hypoplasia; left eye Peters anomaly, microcornea; right eye persistent fetal vasculature cataract, abnormal blood vessels in iris and cornea	-	PRR12	1	1	Johan den Dunnen
00426473	Pat3	PubMed: Reis 2021	3-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	MCOP	bilateral Peter's anomaly, left eye microphthalmia, right eye glaucoma; severe intellectual disability, moderate periventricular leukomalacia; short stature, dysmorphic facial features, 4q35.1del	-	PRR12	1	1	Johan den Dunnen
00426474	Pat4	PubMed: Reis 2021	2-generation family, 1 affected, unaffected parents	F	-	United States	-	-	-	-	-	MCOP	unilaterla microphthalmia; global delays; short stature	-	PRR12	1	1	Johan den Dunnen
00444356	Fam1	PubMed: Chou 2015	7-generation family, 4 affected (3F, 8M)	F;M	-	United States	-	-	-	-	-	MCOP	see paper; ..., 4 anophthalmia/7 microphthalmia, 9 obligate carriers; atrial septal defect (1/11); cerebral aneurysm (1/11); 10/11 inherited from asymptomatic mother	RBP4	RBP4	1	11	Johan den Dunnen
00444358	Fam3	PubMed: Chou 2015	2-generation family, 1 affected, unaffected carrier mother	F	-	United States	-	-	-	-	-	MCOP	see paper; ..., unilateral microphthalmia, coloboma	RBP4	RBP4	1	1	Johan den Dunnen
00444363	FamMA_3	PubMed: Riera 2017	4-generation family, 1 affected, unaffected parents/relatives	M	-	Spain	-	-	-	-	-	MCOP	see paper; ..., bilateral microphthalmia, coloboma iris/retina	-	RBP4	1	1	Johan den Dunnen
00444365	FamMA_2	PubMed: Riera 2017	4-generation family, 4 affected (3F, M); grandmother likely germline mosaic	F;M	-	Spain	-	-	-	-	-	MCOP	see paper; ..., bilateral microphthalmia, congenital cataracts, vertical nystagmus; fundus nomal; foveal hypoplasia	-	PAX6	1	4	Johan den Dunnen
00444375	Fam1	PubMed: Plaisancie 2023	2-generation family, 2 affected fetuses (brother/sister), unaffected carrier mother	F;M	-	France	-	<0d	-	-	-	MCOP	see paper; ..., bilateral microphthalmia with retinal dysplasia; right lung lobulation delay, brachymesophalangia fifth fingers; 2nd interrupted pregnancy (19wg) for bilateral complex microphthalmia, delayed right pulmonary segmentation with only two formed lobes	-	RBP4	1	2	Johan den Dunnen
00444376	Fam2	PubMed: Plaisancie 2023	2-generation family, 2 affected (brother/sister), unaffected carrier mother	F;M	-	France	-	-	-	-	-	MCOP	see paper; ..., bilateral anophthalmia I; intellectual deficiency, autistic features; brother isolated unilateral iris coloboma, bilateral severe myopia	-	RBP4	1	2	Johan den Dunnen
00444377	Fam3	PubMed: Plaisancie 2023	3-generation family, 2 affected (grandmother/girl), unaffected carrier mother	F	-	United Kingdom (Great Britain)	-	-	-	-	-	MCOP	see paper; ..., bilateral severe microphthalmia/anophthalmia; speech delay, atrophy cerebral cortex, delayed brain myelination, corpus callosal hypoplasia, hippocampal anomaly	-	RBP4	1	2	Johan den Dunnen
00444378	Fam4	PubMed: Plaisancie 2023	2-generation family, 3 affected fetuses (3M), unaffected carrier mother	M	-	France	-	<0d	-	-	-	MCOP	see paper; ..., bilateral microphthalmia, colobomateous cysts, microcornea; intrauterine growth retardation; recurrence of bilateral microphthalmia in twin fetuses	-	RBP4	1	3	Johan den Dunnen
00444379	Fam5	PubMed: Plaisancie 2023	2-generation family, 1 affected, unaffected parents	F	-	France	-	-	-	-	-	MCOP	see paper; ..., unilateral iris and retinal coloboma	-	RBP4	1	1	Johan den Dunnen
00444381	Fam7	PubMed: Plaisancie 2023	2-generation family, 1 affected, unaffected carrier mother/3 carrier brothers	F	-	France	-	-	-	-	-	MCOP	see paper; ..., unilateral colobomatous microphthalmia; hypotonia, delayed motor skills, interventricular communication, dolichocolon, short stature	-	RBP4	1	1	Johan den Dunnen
00468531	Pat1	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected parents	F	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain corpus callosum agenesis, Vermian hypoplasia; intellectual disability; short stature	-	SOX2	1	1	Johan den Dunnen
00468532	Pat2	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	30wg-fetus; microphthalmia, coloboma; MRI brain normal	-	SOX2	1	1	Johan den Dunnen
00468533	Pat3	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain corpus callosum hypoplasia, periventricular heterotopia; intellectual disability; short stature	-	SOX2	1	1	Johan den Dunnen
00468534	Pat4	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain normal; intellectual disability; growth hormone deficiency; micropenis	-	SOX2	1	1	Johan den Dunnen
00468535	Pat5	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected non-carrier parents	F	-	France	-	-	-	-	-	MCOP	30wg-fetus; microphthalmia, athalamia, retinal dysplasia, sclerocornea; MRI brain normal; oesophageal atresia; hemi-uterus	-	SOX2	1	1	Johan den Dunnen
00468536	patient;Pat6	PubMed: Menetrey 2002, PubMed: Chassaing 2014	2-generation family, patient and affected fetus (M), unaffected parents	F	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain normal; oesophageal atresia	-	SOX2	1	2	Johan den Dunnen
00468537	Pat7	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	28wg-fetus; anophthalmia; MRI brain normal;	-	SOX2	1	1	Johan den Dunnen
00468538	Pat8	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia, microphthalmia, coloboma; MRI brain corpus callosum hypoplasia; intellectual disability; hypogonadism, micropenis	-	SOX2	1	1	Johan den Dunnen
00468539	Pat9	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	23wg-fetus; anophthalmia; MRI brain ventriculomegaly;	-	SOX2	1	1	Johan den Dunnen
00468540	Pat10	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	24wg-fetus; microphthalmia, retinal dysplasia; MRI brain normal;	-	SOX2	1	1	Johan den Dunnen
00468541	Pat11	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected parents	F	-	France	-	-	-	-	-	MCOP	microphthalmia; intellectual disability; hypogonadism	-	SOX2	1	1	Johan den Dunnen
00468542	Pat12	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia; intellectual disability; growth hormone deficiency; cleft palate	-	SOX2	1	1	Johan den Dunnen
00468543	Pat13	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain normal; intellectual disability; atrial septal defect; pyelic dilatation	-	SOX2	1	1	Johan den Dunnen
00468544	Pat14	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain left cerebellar hemisphere hypoplasia; intellectual disability; cryptorchidism	-	SOX2	1	1	Johan den Dunnen
00468545	Pat15	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	France	-	-	-	-	-	MCOP	anophthalmia, microphthalmia; MRI brain corpus callosum hypoplasia; intellectual disability; oesophageal stenosis; micropenis	-	SOX2	1	1	Johan den Dunnen
00468546	Pat16	PubMed: Chassaing 2014	2-generation family, affected fetus, unaffected parents	M	-	France	-	-	-	-	-	MCOP	23wg-fetus; anophthalmia; MRI brain normal; bilateral cleft l/p	-	SOX2	1	1	Johan den Dunnen
00468547	Pat17	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	France	-	-	-	-	-	MCOP	anophthalmia; MRI brain corpus callosum hypoplasia, Vermian hypoplasia; intellectual disability; growth hormone deficiency; hypogonadism	-	SOX2	1	1	Johan den Dunnen
00468548	Pat18	PubMed: Chassaing 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	France	-	-	-	-	-	MCOP	anophthalmia, microphthalmia; MRI brain normal; intellectual disability; growth hormone deficiency; hypogonadism	-	SOX2	1	1	Johan den Dunnen

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Global Variome shared LOVD

ATM (ataxia telangiectasia mutated)