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.

 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
|
00001633 |
- |
PubMed: Lines 2012 |
- |
M |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss; Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m; Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum |
- |
EFTUD2, HIGD1B |
1 |
1 |
Dennis E. Bulman |
00001634 |
- |
PubMed: Lines 2012 |
- |
M |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum |
EFTUD2 |
EFTUD2 |
1 |
1 |
Johan den Dunnen |
00001635 |
- |
PubMed: Lines 2012, PubMed: Wieczorek 2009 |
- |
F |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/ stenosis; Conductive hearing loss; Bilateral choanal atresia; Need for neonatal resuscitation; Moderate global developmental delay; Walking at 24m; First words at 30m; Mild peripheral pulmonic stenosis; 46,XX; Normal microarray findings |
EFTUD2 |
EFTUD2 |
1 |
1 |
Johan den Dunnen |
00001636 |
- |
PubMed: Lines 2012 |
- |
F |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX |
- |
ADAM11, ASB16, C17orf53, C1QL1, CCDC103, DBF4B, DCAKD, EFTUD2, FAM215A, G6PC3, GFAP, GJC1, HDAC5, HIGD1B, KIF18B, LSM12, NAGS, NMT1, PPY, PYY, TMEM101 |
3 |
1 |
Johan den Dunnen |
00001637 |
- |
PubMed: Lines 2012, PubMed: Wieczorek 2009 |
- |
M |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Birth head circumference of 33cm/-2SD; Malar hypoplasia; Micrognathia; Upslanting obliquity of palpebrae; Lower-eyelid cleft; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Bilateral choanal atresia; Mild to moderate global developmental delay; Walking at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002418 |
- |
PubMed: Lines 2012 |
- |
F |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Paternal age of 31y;Birth OFC of 32.5cm/-2SD; Malar hypoplasia; Micrognathia; downslanting obliquity of palpebrae; Microtia; Auditory canal atresia or stenosis; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 24m; 46,XX; normal microarray finding |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002419 |
- |
PubMed: Lines 2012, PubMed: Guion-Almeida 2006 |
- |
M |
yes |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
paternal age of 25y; full term gestation; Malar hypoplasia; Micrognathia; obliquity of palpebrae; Microtia; preauricula tags; midline cleft palate including submucous; severe global developmental delay; walking at 60m; mdtopic ridge; ASD; duplicated thumb; 46,XY |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002420 |
- |
PubMed: Lines 2012 |
- |
M |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
birth OFC of 33cm/-1SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; lower-eyelid cleft; microtia; unilateral preauricular tags; bilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; walking at 19m; abnormal white matter on FLAIR; ASD; 46,XY; normal microarray findings |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002421 |
- |
PubMed: Lines 2012 |
- |
F |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; birth OFC of 31cm/-3.5SD; micrognathia; level obliquity of palpebrae; bilateral lower-eyelid cleft; unilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; ASD; 46,XX |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002422 |
- |
PubMed: Lines 2012 |
- |
M |
no |
Macau |
- |
- |
- |
- |
- |
MFDGA;MFDM |
increased NT; malar hypoplasia; micrognathia; level obliquity of palpebrae; unilateral preauricular tags; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 19m; metopic ridge; proximally placed thumb; 46,XY; normal microarray findings |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002423 |
- |
PubMed: Lines 2012, PubMed: Wieczorek 2009 |
- |
F |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
increased NT and microcephaly; birth OFC of 30cm/-3SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; microtia; bilateral preauricular tags; unilateral auditory canal atresia or stenosis; conductive hearing loss; unilateral choanal atresia; mild global developmental delay; walking at 24m; first words at 20m; normal brain MRI; gastrostomy; proximally placed thumb; myopia; middle ear and vestibular hypoplasia; 46,XX |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002424 |
- |
PubMed: Lines 2012, PubMed: Guion-Almeida 2006 |
- |
M |
no |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
paternal age of 28y; full term gestation; malar hypoplasia; micrognathia; one downslanting obliquity of palpebrae; microtia; preauricular tags; midline cleft palate including submucous; moderate to severe global developmental delay; walking at 17m; first words at 24m; mitopic ridge; 46,XY |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002426 |
- |
PubMed: Reschen 2012; PubMed: White 2010 |
- |
M |
no |
(United Kingdom (Great Britain)) |
white |
- |
- |
- |
- |
MFDGA;MFDM |
diagnosed with FHS at age of 7y, markely poor growth; expressive language delay; hearing problems; 2.5y bone age delay; prominent nose and ears; 46,XY; attended a normal school but required intensive speech therapy; at 15y, height<-3SD and paucity of speech; stage 2 high blood pressure; history of an episode of macroscopic hematuria and left flank pain; mild left ventricular hypertrophy in echocardiogram; multiple bilateral cysts in his kidneys; creatinine of 87 mmol/L, eGFR of 99ml/min/1.73m2 with the MDRD equation or 106ml/min/1.73m2 with the more accurate CKD-EPI equation. Urinalysis revealed no blood and 30 mg/dl proteinuria; a left posterior cerebral artery with a hypoplastic segment of the precommunicating part of the posterior cerebral artery and co-dominant vertebral arteries |
SRCAP |
SRCAP |
1 |
1 |
Dennis E. Bulman |
00002427 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis Goldenhar syndrome and oesophageal atresia |
F |
? |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; birth length of 0/1.5SD; birth head circumference of -0.5/+0.5SD; weight at 8y of +2SD; length at 8y of +2SD; head circumference at 8y of -1SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; cleft palate; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss;hypermetropic astigmatism; moderate delayed psycho/motor develoment; oesophageal atresia; laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux; |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002428 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of VATER |
M |
? |
France |
- |
- |
- |
- |
- |
MFDGA;MFDM |
pre-eclampsia; polyhydramnios; birth head circumference of -1SD; weight at 5m of -3SD; head circumference at 5m of -3SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic cup-shaped external ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; patent ductus arteriosus; oesophageal atresia; unilateral pelvic kidney; 46,XY |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002429 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of oculoauriculovertebral spectrum and oesophageal atresia |
? |
? |
France |
- |
- |
- |
- |
- |
MFDGA;MFDM |
hydramnios; birth head circumference of +0.5SD; weight at 13m of -2.5SD; height at 13m of -2.5SD; head circumference of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic low-set ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; ASD; oesophageal atresia; normal karyotype |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002430 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012, PubMed: de Pontual 2011 |
initial diagnosis of Feingold syndrome |
F |
? |
France |
- |
- |
- |
- |
- |
MFDGA;MFDM |
IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002433 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of Feingold syndrome |
? |
? |
France |
- |
12y |
- |
- |
- |
MFDGA;MFDM |
birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis; |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002434 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE snydrome |
M |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis; |
CHD7, EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002436 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE syndrome |
? |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
polyhydramnios; birth height of 0SD; birth head circumference of -2SD; weight at 4y of +1SD; height at 4y of 0SD; head circumference at 4y of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic external ears; bilateral auditory canal atresia/stenosis; sensorineural hearing loss; moderate delayed psycho/motor development; oesophageal atresia; lateral semicircular canal agenesis |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002437 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE syndrome |
? |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
IUGR; weight at 11y of +1SD; height at 11y of +3SD; head circumference at 11y<-4SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; auditory canal stresia/stenosis; moderate delayed psycho/motor development; ASD; genital anomalies; tooth agenesis |
CHD7, EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002439 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE syndrome |
? |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
birth height of -2SD; birth head circumference of -3SD; weight at 7y of +1SD; height at 7y of -1.5SD; head circumference at 7y of -2SD; malar hypoplasia; mandibular hypoplasia; microtia; unilateral auditory canal atresia/stenosis; sensorineural hearing loss; strabismus; moderate delayed psycho/motor development; pectus carinatum |
CHD7, EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002442 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE syndrome |
F |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
termination of pregnancy at 29.5w; weight of -1SD; head circumference of -1.5SD; malar hypoplasia; mandibular hypoplasia; dysplastic external ears; oesophageal atresia type C; delayed gyration and retro thyoid thymic residues |
CHD7, EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002443 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of Feingold syndrome |
F |
? |
France |
- |
- |
- |
- |
- |
MFDGA;MFDM |
birth height of 0/-1.5SD; adult weight of 0SD; adult height of -1SD; adult head circumference<-2SD; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss; milder delayed psycho/motor development; brachydactyly; abnormal semicircular canal |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002452 |
- |
PubMed: Gordon 2012, Journal: Gordon 2012 |
initial diagnosis of CHARGE syndrome |
? |
? |
France |
- |
- |
- |
- |
- |
CHARGE, MFDGA;MFDM |
polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple |
CHD7, EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002456 |
- |
PubMed: Luquetti 2012 |
- |
M |
? |
? (unknown) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
OFC of 51.8cm/-1SD; height of 137.6/-1SD; facial asymmetry; choanal atresia; left epibulbar dermoid; unilateral cleft of zygomatic arch; bilateral microtia (grade 3); bilateral preauricular skin tags; atretic external auditory canal; conductive hearing loss; normal inner ear; hypoplastic/dysplastic ossicles; mandibular hypoplasia; malar hypoplasia; micrognathia (asymmertric); bifid uvula; proximally placed thumb; normal cervical spine; cooperative personality; answer questions appropriately; no unusual behaviors; mild developmental delay |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002602 |
- |
PubMed: Voigt 2013; PubMed: Wieczorek 2013 |
- |
F |
no |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002603 |
- |
PubMed: Voigt et al 2013; PubMed: Wieczorek D et al 2007 |
brother of individual #00002602 |
M |
no |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; weight at 8y7m 25kg/-2.4SD; height at 8y7m 128cm/-2.4SD; OFC at 8y7m 46cm/-5.9SD; severe ID; walking at 39m; microtia with squared earlobe; aplasia/hypoplasia of external ear canal; bilateral combined hearing loss; cleft palate; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; VSD; bilateral cleft of zygomatic bone |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002604 |
- |
PubMed: Voigt 2013; PubMed: Wieczorek et al.2007 |
mother of individual #00002602 and #00002603 |
F |
no |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
height at adulthood 165cm/-0.2SD; weight at adulthood 58kg/-1.0SD; OFC at adulthood 53.5cm/-1.0SD; facial asymmetry; nasal speech; reduced mouth opening; unilateral cleft of zygomatic bone |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002606 |
- |
PubMed: Voigt 2013; PubMed: Megarbane et al.2005 |
- |
M |
yes |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios;birth height 48cm/-1.7SD; birth OFC 32cm/-2.2SD; Height at 8y 114.5cm/-2.6SD; weight at 8y21kg/-1.6SD; OFC at 8y 46cm/-5.5SD; mild ID; walking at 30m; first words at 36m; hyperplastic supraorbital ridges; frontal bossing upslanting palpebral fissures; microtia with squared earlobe; hypoplasia of external ear canal; bilateral conductive hearing loss; esophageal atresia; small middle ear cavity; abnormal malleolus |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002607 |
- |
PubMed: Voigt 2013, PubMed: Megarbane et al.2005 |
sister of individual #00002606 |
F |
yes |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; height at 2.5y 84.5cm/-1.91SD; weight at 2.5y 11kg/-1.3SD; OFC at 2.5y 43.4cm/-5.3SD; mild ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia; absence of middle ear pneum; hypoplasia of malleus and incus |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002621 |
- |
PubMed: Voigt et al 2013 |
- |
M |
no |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; birth height 52cm/-0.2SD; birth OFC 34cm/-1.2SD; height at 7y4m 126cm/0.1SD; weight at 7y4m 22.5kg/-0.6SD; OFC at 7y4m 47.5cm/-3.9SD; moderate ID; walking at 21m; words at 30m; upslanting palpebral ridges; microtia with squared earlobe; narrow external ear canal; cleft palate; micrognathia; esophageal atresia; VSD; bilateral cleft of zygomatic bone; |
- |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002622 |
- |
PubMed: Voigt 2013 |
- |
M |
- |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
birth height 49cm/-0.5SD; birth OFC 34cm/-0.4cm; height at 3.5y 98cm/0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00002629 |
- |
PubMed: Voigt 2013 |
- |
F |
no |
(Germany) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
polyhydramnios; birth OFC 32.3cm/-1SD; height at 4.5y 100.7cm/-1.6SD; weight at 4.5y 18.2kg/1SD; OFC at 4.5y 46.6cm/-3.3SD; mild ID; walking at 18m; first words at 12m; mild facial asymmetry; down slanting palpebral fissures; microtia with squared earlobe; hypoplasia of exteral ear canal; conductive hearing loss; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; small middle ear cavity; normal cochlea and semicircular canals; 46,XX; normal FISH 22q; normal SNP array |
EFTUD2, TCOF1 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00004131 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004132 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004133 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004134 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004135 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004136 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004137 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004138 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004139 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004140 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004141 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004142 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004143 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004144 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004145 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004146 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004147 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004148 |
- |
Lehalle et al 2014 |
EFTUD2 variant inherited from affected mother |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004149 |
- |
Lehalle et al 2014 |
Mother of case 27 in Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004150 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004151 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004152 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004153 |
- |
Lehalle et al 2014 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00004154 |
- |
Lehalle et al 2014 |
EFTUD2 variant inherited from affected mother (= "Mother of case 11" in Gordon et al 2012). |
- |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Christopher Gordon |
00011460 |
- |
PubMed: Need 2012 |
- |
M |
? |
India |
- |
- |
- |
- |
- |
MFDGA;MFDM |
Developmental delay, possible autism, microcephaly, dysmorphic features, spine abnormalities, sensorineural hearing loss |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00011461 |
- |
PubMed: Need 2012 |
- |
M |
? |
- |
European-American |
- |
- |
- |
- |
MFDGA;MFDM |
microcephaly, facial asymmetry, acyanotic tetralogy of Fallot, history of small muscular ventricular septal defect, right aortic arch with mirror image branching, malformed right ear with hearing loss, bifid uvula, cleft soft palate |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00046331 |
- |
PubMed: Gandoni 2015, Journal: Gandoni 2015 |
female dizygotic twin neonate |
F |
? |
United States |
- |
- |
- |
- |
- |
MFDGA;MFDM |
see paper; born 36w gestation, intrauter-
ine growth retardation, ... |
EFTUD2 |
EFTUD2 |
1 |
1 |
Dennis E. Bulman |
00104572 |
- |
- |
- |
M |
no |
Czech Republic |
white |
- |
- |
- |
- |
MFDGA;MFDM |
intellectual disability, speech delay, growth retardation, epilepsy, hypotonia, shorter fifth digits on hands, facial dysmorphism |
EFTUD2 |
EFTUD2 |
1 |
1 |
Jana Paderova |
00289358 |
- |
- |
- |
M |
no |
Korea, South (Republic) |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
So Young Kim |
00295671 |
T143I |
Journal: Thomas 2020 |
male patient |
M |
? |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
born with normal birth parameters, uneventful pregnancy; micrognathia, anteverted ears, bulbous nasal tip, epicanthus; feeding difficulties, developed rapidly progressive postnatal microcephaly; 12m-head circumference -4 SD, premature closure metopic ridge; walk-21m, language delayed, attended school with special needs; normal hearing, MRI brain normal |
EFTUD2 |
EFTUD2 |
1 |
1 |
Huw Thomas |
00295672 |
G207E |
Journal: Thomas 2020 |
- |
M |
no |
- |
European |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Huw Thomas |
00295673 |
N286S |
Journal: Thomas 2020 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Huw Thomas |
00295675 |
Q383H |
Journal: Thomas 2020 |
- |
M |
yes |
- |
African |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Huw Thomas |
00295676 |
P778S |
Journal: Thomas 2020 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Huw Thomas |
00303257 |
UTH_1 |
Not published |
Maternal uncle to proband with T21. Otherwise, non-contributory family history; EFTUD2 Related Disorders (Mandibulofacial dysostosis with microcephaly) |
F |
no |
United States |
Maternal (Mexico) Paternal (Honduras) |
00y04m |
- |
yes |
Early Childhood Intervention |
MFDGA;MFDM |
Hypoplasia of the maxilla (HP:0000327)
Feeding difficulties HP:0011968
Preauricular skin tag HP:0000384
Mandibulofacial dysostosis HP:0005321
Postnatal microcephaly HP:0005484
Cleft palate HP:0000175
Hypertelorism HP:0000316
Facial Hemangioma: HP:0000329
Microretrognathia- HP:0000308
Underdeveloped Supraorbital ridges HP:0009891
Sloping forehead HP:0000340
Facial Asymmetry HP: 0000324
Clinodactyly of the 5th toe (B/L) HP0001864
Overlapping toes (B/L): HP:0001845
Cup, Simplified Ear (R only) HP:0000378 |
- |
EFTUD2 |
1 |
1 |
Kate Mowrey |
00306214 |
115 |
- |
- |
F |
- |
China |
- |
- |
- |
- |
- |
MFDGA;MFDM |
- |
EFTUD2 |
EFTUD2 |
1 |
1 |
Sha Hong |