Disease #00243 (IMAGE (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)), OMIM:614732)

Official abbreviation	IMAGE
Name	intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies (IMAGE)
OMIM ID	614732
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	23
Phenotype entries for this disease	23
Associated with 2 genes	CDKN1C, POLE
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-10-11 21:49:54 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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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23 entries on 1 page. Showing entries 1 - 23.

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
00016433	-	PubMed: Hamajima 2013	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); inruterine growth retardation (HP:0001511); genitourinary abnormalities (HP:0000078); abnormality nose (HP:0000366); frontal bossing (HP:0002007); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00016434	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	possible hypercalciuria (HP:0002150), adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003025; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00016435	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); no short limbs (-HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003026; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); no short arms (-HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00016436	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00016437	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003028; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00016438	-	PubMed: Arboleda 2012	-	-	?	-	?	-	-	-	-	IMAGE	adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003029; abnormality nose (HP:0000366); frontal bossing (HP:0002007); no small epiphyses (-HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism	CDKN1C	CDKN1C	1	1	Eamonn Maher
00419957	Pat1	PubMed: Nakano 202	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	IMAGE	see paper; ..., intrauterine growth retardation; adrenal insufficiency; no genitourinary abnormality; immunodeficiency; Café au lait patches,; diffuse large B-cell lymphoma; 9y-delayed mental development, intellectual disability IQ33	-	POLE	2	1	Johan den Dunnen
00419958	Pat2	PubMed: Nakano 202	2-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Japan	-	-	-	-	-	IMAGE	see paper; ..., jaundice; intrauterine growth retardation; adrenal insufficiency; immunodeficiency; growth hormone insufficiency; diffuse large B-cell lymphoma	-	POLE	2	1	Johan den Dunnen
00419959	Fam1Pat1	PubMed: Logan 2018	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	United Kingdom (Great Britain)	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; scoliosis; osteopenia; small patella; seizures; gastrostomy; eczema	-	POLE	2	2	Johan den Dunnen
00419960	Fam1Pat2	PubMed: Logan 2018	sister	F	-	United Kingdom (Great Britain)	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia	-	POLE	2	1	Johan den Dunnen
00419961	Pat3	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Ireland	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; midline accessory incisor; osteopenia; infant eczema	-	POLE	2	1	Johan den Dunnen
00419962	Pat4	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Australia	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; IgM paraproteinaemia	-	POLE	2	1	Johan den Dunnen
00419963	Pat5	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	IMAGE	intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; hypopituitarism; T cell lymphoma; gastrostomy; absent patella	-	POLE	2	1	Johan den Dunnen
00419964	Pat6	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Canada	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; bilat coxa valga; 11 ribs; 6 lumbar vertebrae; scoliosis; gastrostomy; infant eczema	-	POLE	2	1	Johan den Dunnen
00419965	Pat7	PubMed: Logan 2018	2-generation family, 1 affected, unaffected parents	M	-	United States	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; hypopituitarism; atrial septal defect; brachydactyly; gastrostomy	-	POLE	2	1	Johan den Dunnen
00419966	Fam7Pat8	PubMed: Logan 2018	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	M	-	Ireland	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy	-	POLE	2	2	Johan den Dunnen
00419967	Fam7Pat9	PubMed: Logan 2018	sister	F	-	Ireland	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; no adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; developmental dysplasia hip; gastrostomy	-	POLE	2	1	Johan den Dunnen
00419968	Pat10	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Ireland	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; 11 ribs; clinodactyly; osteopenia; café au lait patches	-	POLE	2	1	Johan den Dunnen
00419969	Fam9Pat11	PubMed: Logan 2018	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	Australia	-	-	-	-	-	IMAGE	intrauterine growth restriction; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patch	-	POLE	2	2	Johan den Dunnen
00419970	Fam9Pat12	PubMed: Logan 2018	sister	F	-	Australia	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency	-	POLE	2	1	Johan den Dunnen
00419971	Pat13	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Australia	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; café au lait patch	-	POLE	2	1	Johan den Dunnen
00419972	Pat14	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	IMAGE	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; gastrostomy; hypercalaemia in infancy; café au lait patches; developmental dysplasia hip; kyphoscoliosis	-	POLE	2	1	Johan den Dunnen
00419973	Pat15	PubMed: Logan 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	IMAGE	intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patches; seizures; osteopenia; osteoporosis; nodular sclerosis; Hodgkin’s lymphoma	-	POLE	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD