Disease #00675 (OPPG (osteoporosis-pseudoglioma syndrome (OPPG)), OMIM:259770)

Official abbreviation	OPPG
Name	osteoporosis-pseudoglioma syndrome (OPPG)
OMIM ID	259770
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	47
Phenotype entries for this disease	48
Associated with 1 gene	LRP5
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

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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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\|	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
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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47 entries on 1 page. Showing entries 1 - 47.

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
00107585	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	2	Johan den Dunnen
00107594	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107600	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107606	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107607	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107608	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107609	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Johan den Dunnen
00107610	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107611	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107612	-	-	-	-	yes	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Johan den Dunnen
00107614	-	-	-	-	no	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Johan den Dunnen
00107666	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107667	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107668	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107669	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107670	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107671	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107672	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107673	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107674	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107675	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107676	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107677	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107678	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107679	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107680	16252235-PatOP610	PubMed: Ai 2005	-	F	-	United States	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome, congenital pseudoglioma, fractures (6y), no mental retardation	LRP5	LRP5	2	1	Frans Cremers
00107682	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107683	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107684	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107686	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107687	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107688	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107689	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107690	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107691	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107692	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	3	1	Frans Cremers
00107693	-	-	-	-	no	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	2	1	Frans Cremers
00107703	-	-	-	-	-	-	-	-	-	-	-	OPPG	primary osteoporosis;osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107708	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00107709	-	-	-	-	-	-	-	-	-	-	-	OPPG	osteoporosis-pseudoglioma syndrome	LRP5	LRP5	1	1	Frans Cremers
00143763	-	-	-	M	-	-	-	-	-	-	-	OPPG	-	LRP5	LRP5	2	1	Dr. Alexandra Wey-Fabrizius
00274228	Patient 1	PubMed: Welinder 2015	2-generation family, 2 affected	F	no	United States	North European	-	-	-	-	EVR4, OPPG	bilateral retinal detachment (HP:0000541), severe osteopenia (HP:0000938)	LRP5	LRP5	2	2	Jasmine Chen
00274289	OP345	PubMed: Ai 2005	-	M	no	United States	-	-	-	-	-	EVR;FEVR, OPPG	microphthalmia (HP:0000568), fractures (HP:0002757)	LRP5	LRP5	1	1	Jasmine Chen
00416869	AB685 (Family 1)	PubMed: Maltese 2017	family 1, individual A8685 (proband), 2 generation family, 2 affected	M	-	Italy	Italian	-	-	-	pars plana vitrectomy, laser photocoagulation	EVR;FEVR, OPPG	familial exudative vitreoretinopathy stage 5 right eye 4B left eye (HP:0030490), osteopenia (HP:0000938); early onset nystagmus with severe retinopathy and rapid development of retinal detachment in the left eye; 1y: pars plana vitrectomy and Argon laser photocoagulation in the right eye for stage 4B familial exudative vitreoretinopathy (retinal detachment involving the macula with falciform fold anchored in the temporal retinal sector and abnormal peripheral exudation); left eye was too advanced due to stage 5 familial exudative vitreoretinopathy (closed funnel retinal detachment); 3y: cataract surgery with intraocular lens implant resulting in stable visual acuity of 0.6 LogMAR in the right eye for the next 3 years; 7y: sudden visual loss (1.0 LogMAR) fluorangiography: retinal exudation next to the falciform fold in the macular area, underwent retinal cryotreatment; subsequent examination showed reabsorption of the exudates and no signs of angiographic leakage; visual acuity restored to 0.6 LogMAR; total X-ray examination of the proband showed thin, elongated diaphyses of the long bones with relatively wider metaphyses, valgus deviation of the femoral neck- diaphysis axis, evident reduction in calcium tone and no other skeletal alterations; dual energy X-ray absorptiometry (DXA): L1 to L4 bone mineral density as 0.4 g/cm2 (Z-score: -1.8); familial exudative vitreoretinopathy stage right/left eye: 4B/5; bone mineral density: osteopenia	FZD4, LRP5, NDP, TSPAN12	LRP5	2	1	LOVD
00416870	AB996 (Family 1)	PubMed: Maltese 2017	family 1, individual A8996 (proband's father), 2 generation family, 2 affected	M	-	Italy	Italian	-	-	-	-	OPPG	stage 2 FEVR (HP:0030490), osteopenia (HP:0000938); fundus: very small hard peripheral exudates; fluorescein angiography: evidence of stage 2A familial exudative vitreoretinopathy; dual energy X-ray absorptiometry: L1 to L4 bone mineral density: 1.033 g/ cm2 (Z-score: -1.5 SD) and left total femur and neck bone mineral density were 0.905 g/cm2 (Z-score: -1.3 SD) and 0.822 g/cm2 (Z score: -1.7 SD), respectively; familial exudative vitreoretinopathy stage right/left eye: 2A/2A; bone mineral density: osteopenia	FZD4, LRP5, NDP, TSPAN12	LRP5	1	1	LOVD
00416871	AB873 (Family 2)	PubMed: Maltese 2017	family 2, individual AB873 (proband, parents second cousins)	M	yes	Italy	Italian	-	-	-	vitreoretinal surgery	OPPG	FEVR (HP:0030490), severe osteoporosis (HP:0000939); familial exudative vitreoretinopathy stage right/left eye: 5A/3B; bone mineral density: osteoporosis; 1m: retinopathy from the first month of life with complete retinal detachment in the right eye; 10m: fundus examination conducted under general anesthesia: familial exudative vitreoretinopathy diagnosis, stage right/left eye: 5A/3B; total retinal detachment right eye with disorganised proliferative tissue; vitreoretinal surgery with lensectomy, vitrectomy and membrane peeling; radial retinal fold associated with a small area of persistent vascularization extending into the vitreal cavity in the left eye; lest eye fluorescein angiography: wide area of the peripheral retina devoid of vascularization and with vascular leakage treated by Argon laser ablation; bone mineral density: severe osteoporosis; current whole body bone mineral density: 0.5 g/cm2 (Z-score: -2.5 SD)	FZD4, LRP5, NDP, TSPAN12	LRP5	1	1	LOVD
00416872	AB874 (Family 2)	PubMed: Maltese 2017	family 2, individual AB874 (proband's father)	M	-	Italy	Italian	-	-	-	-	OPPG	no familial exudative vitreoretinopathy; bone mineral density: osteopenia - lumbar bone mineral density of 0.966 g/cm2 (Z-score: -1.1 SD)	LRP5	LRP5	1	1	LOVD

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Global Variome shared LOVD

DPM1 (dolichyl-phosphate mannosyltransferase polype...)