Global Variome shared LOVD
PORCN (porcupine homolog (Drosophila))
LOVD v.3.0 Build 29 [
Current LOVD status
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Curators:
Maria Paola Lombardi
and
Raoul Hennekam
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View all diseases associated with gene PORCN
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All individuals with variants in gene PORCN
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
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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.
227 entries on 3 pages. Showing entries 1 - 100.
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How to query
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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)
7
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)
4
1
Yu Sun
00004220
-
-
-
M
no
(Belgium)
white
00y00m00d
-
-
-
FDH
microphthalmia; coloboma of the retina; left-sided posterolateral diaphragmatic hernia; atrial septal defect (ASD); deceased day 0.
1
1
Paul Brady
00004221
-
-
-
M
no
(Belgium)
white
00y00m10d
-
-
-
FDH
bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency.
1
1
Paul Brady
00004223
-
-
skewed X-inactivation; 70/30
F
no
(Belgium)
white
>08y
-
-
-
FDH
cutis aplasia of the scalp
1
1
Paul Brady
00004224
-
-
skewed X-inactivation; 88/18
F
no
(Belgium)
white
>05y
-
-
-
FDH
normal; no phenotypic features
1
1
Paul Brady
00004225
-
-
healthy mother of Patient 1, Patient 2, Patient 3, Patient 4. Skewed X-inactivation; 90/10
F
no
(Belgium)
white
>40y
-
-
-
Healthy/Control
-
1
1
Paul Brady
00132797
121906
-
multi-generation family, several affecteds
M
no
United Kingdom (Great Britain)
White British
>26y
-
Yes
-
?
microphthalmia (0000568) right sided, hypospadias (0000047), no skin defects, feeding difficulties in infancy (0008872), mild LD
1
2
Emma Wakeling
00132798
121906
-
-
M
no
United Kingdom (Great Britain)
White British
>48y
-
Yes
-
?
bilateral microphthalmia (0007633), severe LD, schizophrenia (HP:0100753), unusual thumbs (HP:0001172), dental anomalies (HP:0000164)
1
2
Emma Wakeling
00163778
-
-
-
-
-
-
-
-
-
-
-
GOSHS
foca dermal hypoplasia (Goltz-Gorlin- oder Goltz-Syndrom)
1
1
Gemeinschaftspraxis für Humangenetik Dresden
00231005
35-II-1
-
-
M
no
Japan
-
-
-
-
-
SHFM6
split foot, polydactyly, Microphthalmia, cryptorchidism, global developmental delay
1
1
Kaori Yamoto
00231006
36-II-1
-
-
F
no
Japan
-
-
-
-
-
FDH
, Hyperpigmentation, nodular fat herniation, ridged dysplastic nails, dental malformations
1
1
Kaori Yamoto
00233852
-
PubMed: Lombardi 2011
-
F
-
Netherlands
white
-
-
-
-
FDH
no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233853
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233854
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); mental retardation (HP:0001249); IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233855
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252);
1
1
Maria Paola Lombardi
00233856
Proband 2
PubMed: Clements 2009
adopted
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677); hypohidrosis (HP:0000966)
1
1
Maria Paola Lombardi
00233857
-
PubMed: Harmsen 2009
mother of FDH3b
F
-
-
-
-
-
-
-
FDH
short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)
1
1
Maria Paola Lombardi
00233858
-
PubMed: Harmsen 2009
daughter of FDH3a
F
-
-
-
-
-
-
-
FDH
hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)
1
1
Maria Paola Lombardi
00233859
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);
1
1
Maria Paola Lombardi
00233860
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233861
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); omphalocele (HP:0001539), no IUGR (-HP:0001511)
1
1
Maria Paola Lombardi
00233862
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
dental defects, esophageal papillomas; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233863
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233864
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;
1
1
Maria Paola Lombardi
00233865
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); omphalocele (HP:0001539), no IUGR (-HP:0001511)
1
1
Maria Paola Lombardi
00233866
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects, clinodactily; skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); has oral features; microcephaly (HP:0000252);
1
1
Maria Paola Lombardi
00233867
1
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)
1
1
Maria Paola Lombardi
00233868
-
PubMed: Wang 2007
-
M
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257);
1
1
Maria Paola Lombardi
00233869
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
dental defects, esophageal papillomas; skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); has oral features;
1
1
Maria Paola Lombardi
00233870
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mental retardation (HP:0001249); osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233871
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252);
1
1
Maria Paola Lombardi
00233872
-
communicated by MP Lombardi
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
sacral dimple; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), ND;
1
1
Maria Paola Lombardi
00233873
patient 1
PubMed: Leoyklang 2009
-
F
-
Thailand
Thai
-
-
-
-
FDH
aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210);
1
1
Maria Paola Lombardi
00233874
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);
1
1
Maria Paola Lombardi
00233875
case report
PubMed: Schaffer 2009
-
F
-
Ecuador
-
-
-
-
-
FDH
syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478);
1
1
Maria Paola Lombardi
00233876
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
coloboma R iris; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627);
1
1
Maria Paola Lombardi
00233877
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202); significantly decreased vision (HP:0000572); microcephaly (HP:0000252); mental retardation (HP:0001249); omphalocele (HP:0001539)
1
1
Maria Paola Lombardi
00233878
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
diastasis pubis, costovertebral dyssegmentation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); microphthalmia (HP:0000568);
1
1
Maria Paola Lombardi
00233879
-
PubMed: Bornholdt 2009
-
M
-
-
-
-
-
-
-
FDH
dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; coloboma (HP:0000589);
1
1
Maria Paola Lombardi
00233880
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
optic atrophy; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), hydronephrosis (HP:0000126), displaced anus (HP:0004397);
1
1
Maria Paola Lombardi
00233881
10
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
ala nasi coloboma, 2 ear tags, ASD; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); hydronephrosis (HP:0000126), heart defect (HP:0001627); occipitofrontal circumference less than P3-P10 (HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233882
2
PubMed: Maas 2009
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
unilateral absent clavicle, breast cancer in underdeveloped mamma; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233883
-
PubMed: Harmsen 2009
mother and grandmother possibly affected
F
-
-
-
-
-
-
-
FDH
R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); hydronephrosis (HP:0000126), no heart defect (-HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)
1
1
Maria Paola Lombardi
00233884
3
PubMed: Maas 2009
-
M
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233885
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233886
6
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
lymphedema legs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); major internal organs anomalies; occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), hypohidrosis (HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233887
Patient 2
PubMed: Leoyklang 2009
c[.682C>T; 737_738insA] mutations are on same allele
F
-
Thailand
Thai
-
-
-
-
FDH
midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)
2
1
Maria Paola Lombardi
00233888
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539)
1
1
Maria Paola Lombardi
00233889
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;
1
1
Maria Paola Lombardi
00233890
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233891
-
communicated by MP Lombardi
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
FDH
has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);
1
1
Raoul Hennekam
00233892
-
PubMed: Smigiel 2011
born 09-02-2009
F
-
Poland
white
-
-
-
-
FDH
Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249); omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233893
-
PubMed: Lombardi 2011
born 05-12-2009
F
-
Sweden
white
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233894
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210);
1
1
Maria Paola Lombardi
00233895
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); coloboma (HP:0000589); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233896
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589);
1
1
Maria Paola Lombardi
00233897
Proband 1
PubMed: Clements 2009
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539)
1
1
Maria Paola Lombardi
00233898
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects, caudal cord defects; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202), yes; coloboma (HP:0000589); mental retardation (HP:0001249); omphalocele (HP:0001539)
1
1
Maria Paola Lombardi
00233899
11
PubMed: Maas 2009
sister of 12
F
-
Netherlands
white
-
-
-
-
FDH
no additional features; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233900
12
PubMed: Maas 2009
sister of 11
F
-
Netherlands
white
-
-
-
-
FDH
ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233901
patient 1
PubMed: Clements 2008
-
F
-
Thailand
Thai
-
-
-
-
FDH
dental caries; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233902
-
PubMed: Lombardi 2011
-
F
-
Sweden
-
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233903
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233904
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mammary hypoplasia in adults (HP:0003187)
1
1
Maria Paola Lombardi
00233905
8
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
hearing loss, thoracic wall abnormalities; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233906
8.1
PubMed: Maas 2009
fetus (of pat 8)
F
-
Netherlands
white
-
-
-
-
FDH
ectopia cordis, ala nasi coloboma, bilat renal agenesis, bilat fibula agenesis, anal atresia, diaphr hernia, butterfly T6, abdominal wall defect; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); kidney malformation (HP:0012210), heart defect (HP:0001627); no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233907
-
PubMed: Lombardi 2011
-
F
-
Denmark
white
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233908
-
PubMed: Froyen 2009
-
F
-
Belgium
white
-
-
-
-
FDH
dental anomalies; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233909
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233910
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
tooth anomalies, diastasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589);
1
1
Maria Paola Lombardi
00233911
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233912
-
PubMed: Wang 2007
-
M
-
-
-
-
-
-
-
FDH
Blashkolinear pigmentation, tooth anomalies; skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); has oral features;
1
1
Maria Paola Lombardi
00233913
-
PubMed: Grzeschik 2007
-
F
-
-
-
-
-
-
-
FDH
nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065);
1
1
Maria Paola Lombardi
00233914
-
PubMed: Wang 2007
-
M
-
-
-
-
-
-
-
FDH
Blashkolinear pigmentation; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no mental retardation (-HP:0001249); osteopathia striata (HP:001074)
1
1
Maria Paola Lombardi
00233915
-
PubMed: Bornholdt 2009
mother has skin linear lesions
F
-
-
-
-
-
-
-
FDH
dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252);
1
1
Maria Paola Lombardi
00233916
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233917
-
PubMed: Wang 2007
-
M
-
-
-
-
-
-
-
FDH
costovertebral dyssegmentation, distasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074)
1
1
Maria Paola Lombardi
00233918
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842);
1
1
Maria Paola Lombardi
00233919
13
PubMed: Maas 2009
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
unilat extra nipple; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233920
Patient 3
PubMed: Leoyklang 2009
-
F
-
Thailand
Thai
-
-
-
-
FDH
bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249);
1
1
Maria Paola Lombardi
00233921
-
PubMed: Froyen 2009
-
F
-
Finland
white
-
-
-
-
FDH
dental anomalis; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249);
1
1
Maria Paola Lombardi
00233922
-
PubMed: Bornholdt 2009
-
M
-
-
-
-
-
-
-
FDH
has additional features; skin hypoplasia (HP:0008065);
1
1
Maria Paola Lombardi
00233923
-
PubMed: Wang 2007
-
F
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257);
1
1
Maria Paola Lombardi
00233924
14
PubMed: Maas 2009
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233925
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539)
1
1
Maria Paola Lombardi
00233926
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233927
-
PubMed: Bornholdt 2009
-
M
-
-
-
-
-
-
-
FDH
optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252);
1
1
Maria Paola Lombardi
00233928
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
clinodactyly, dental defects, asymmetric face; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627), ND; no omphalocele (-HP:0001539), no IUGR (-HP:0001511), ND
1
1
Maria Paola Lombardi
00233929
9
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
unilat aplasia fibula, dermal hypoplasia only lower limbs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202), yes; thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ND; occipitofrontal circumference not less than P3-P10 (-HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233930
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
skin hypoplasia (HP:0008065); scoliosis (HP:0002650), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); coloboma (HP:0000589);
1
1
Maria Paola Lombardi
00233931
-
PubMed: Bornholdt 2009
-
F
-
-
-
-
-
-
-
FDH
dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features;
1
1
Maria Paola Lombardi
00233932
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233933
-
PubMed: Bornholdt 2009
-
M
-
-
-
-
-
-
-
FDH
sacral dimple; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842);
1
1
Maria Paola Lombardi
00233934
-
PubMed: Harmsen 2009
-
F
-
-
-
-
-
-
-
FDH
hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), IUGR (HP:0001511)
1
1
Maria Paola Lombardi
00233935
4
PubMed: Maas 2009
-
F
-
United Kingdom (Great Britain)
white
-
-
-
-
FDH
telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233936
5
PubMed: Maas 2009
-
F
-
Slovenia
white
-
-
-
-
FDH
has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233937
5.1
PubMed: Maas 2009
fetus 1 (of pat 5)
F
-
Slovenia
white
-
-
-
-
FDH
unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities
1
1
Maria Paola Lombardi
00233938
5.2
PubMed: Maas 2009
fetus 2 (of pat 5)
F
-
Slovenia
white
-
-
-
-
FDH
unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities
1
1
Maria Paola Lombardi
00233939
7
PubMed: Maas 2009
-
F
-
Netherlands
white
-
-
-
-
FDH
has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);
1
1
Maria Paola Lombardi
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