Global Variome shared LOVD
TFE3 (transcription factor binding to IGHM enhancer 3)
LOVD v.3.0 Build 30b [
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View all diseases associated with gene TFE3
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All individuals with variants in gene TFE3
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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
25 entries on 1 page. Showing entries 1 - 25.
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Legend
How to query
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)
2
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)
1
1
Yu Sun
00172659
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
64
Lucy Raymond
00172660
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00320332
Pat1/Pat1
PubMed: Villegas 2019
,
PubMed: Lehalle 2020
-
F
-
France
-
-
-
-
-
ID
pregnancy high serum markers, normal foetal karyotype; no neonatal features; birth 36w, weight –1SD, length +0.5SD; length -4.5SD, BMI 25 (80th); severe developmental delay/intellectual disability; not walking; no speech; 7m-epilepsy; 7m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; bifid nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; aortic insufficiency, body asymmetry; no recurrent infections
1
1
Johan den Dunnen
00320333
Pat5/Pat2
PubMed: Villegas 2019
,
PubMed: Lehalle 2020
-
F
-
France
-
-
-
-
-
ID
pregnancy uncomplicated; no neonatal features; length -4SD, OFC 0SD, BMI 30 (92th); severe developmental delay/intellectual disability; 40m-walk; few words; 10y-epilepsy; 9m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness, protruding tongue; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; normal skeletal X-rays; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; no recurrent infections
1
1
Johan den Dunnen
00320334
Pat3/Pat3
PubMed: Villegas 2019
,
PubMed: Lehalle 2020
-
F
-
France
-
-
-
-
-
ID
pregnancy oligohydramnios, third trimester intrauterine growth retardation; neonatal hypoglycaemia; birth 41w, weight –2SD; length -1.4SD, OFC -1SD, BMI 17.5 (90th); severe developmental delay/intellectual disability; not walking; no speech; 17m-epilepsy; infancy regression; no neurological phenotype; no behavioural issues; MRI brain normal; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; unilateral dysplasia; no genu valgum; no club feet; skin Blaschko’s lines; umbilical hernia; strabismus, impaired vision; no hearing loss; chronic upper airways infections
1
1
Johan den Dunnen
00320335
Pat4
PubMed: Lehalle 2020
-
F
-
-
Europe
-
-
-
-
ID
pregnancy uncomplicated; neonatal plagiocephaly; birth 41w, weight +2SD, length >+3SD, OFC +2SD; length +1.4SD, OFC +0.7SD, BMI 19.9 (95th); severe developmental delay/intellectual disability, no interaction, low head control; not walking; no speech; no epilepsy; no developmental regression; severe truncal muscular hypotonia, distal hypertonia; autistic behaviour (stereotypic movements); MRI brain normal; high forehead; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; hyperopia; unconclusive hearing test; no recurrent infections
1
1
Johan den Dunnen
00320336
Pat5
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
pregnancy uncomplicated; neonatal jaundice, transient neonatal hepatomegaly; birth 38w, weight +1SD, length –1SD, OFC -1SD; length -4SD, OFC 0SD, BMI 19; severe developmental delay/intellectual disability; not walking; no speech; 6y-epilepsy; no developmental regression; hypotonia, lower limb spasticity; MRI brain short corpus callosum; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays metaphyseal enlargement; skin Blaschko’s lines; no umbilical hernia; abnomality of the vep; hearing loss; clubbing of fingers
1
1
Johan den Dunnen
00320337
Pat6
PubMed: Lehalle 2020
-
F
-
Portugal
-
-
-
-
-
ID
pregnancy uncomplicated; neonatal feeding difficulties; birth term, weight 0SD, length +0.5SD, OFC +0.5SD; length -1SD, OFC 0SD, BMI 18 (90th); severe developmental delay/intellectual disability, head control; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; sleep disturbance; MRI brain hydrocephaly (acqueducal stenosis); no widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays short metacarpals and long bones; skin Blaschko’s lines; no umbilical hernia; strabismus, depigmented iridian macule; hearing loss; lateral semicircular canal dysplasia, laryngomalacia; recurrent infections
1
1
Johan den Dunnen
00320338
Pat2/Pat7
PubMed: Villegas 2019
,
PubMed: Lehalle 2020
-
F
-
France
-
-
-
-
-
ID
pregnancy ureteral dilatation, gestational diabetes; neonatal hypotonia, feeding difficulties; birth 38w, weight +2SD, length 0SD, OFC 0SD; length +2.5SD, OFC 1SD, BMI 15.4 (50th); severe developmental delay/intellectual disability, 12m-sit; not walking; no speech; no epilepsy; no developmental regression; no neurological phenotype; hand stereotypies, sleep disturbance, autism; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; no coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; histiocytofibroma (4y); no recurrent infections
1
1
Johan den Dunnen
00320339
Pat8
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
pregnancy uncomplicated; no neonatal features; birth 39w, weight 0SD, lenght 0SD; length -3SD, OFC -0.5SD, BMI 22.4 (85th); severe developmental delay/intellectual disability; 6y-walk; no speech; 4y-epilepsy; infancy loss of words; hypotonia; happy behaviour, sleep disturbance; MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; hyperopia; no hearing loss; patent ductus arteriosus, gastro-oesophageal reflux; no recurrent infections
1
1
Johan den Dunnen
00320340
Pat9
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
pregnancy uncomplicated; neonatal jaundice; birth 39w, weight +1SD; length -2.8SD, OFC +0.5SD, BMI 25 (90th); severe developmental delay/intellectual disability; 30m-walk; 3y-single words; 10y-epilepsy; no developmental regression; no neurological phenotype; autistic behaviour (stereotypies); MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; no recurrent infections
1
1
Johan den Dunnen
00320341
Pat10
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
pregnancy Tegretol; neonatal geeding difficulties; birth birth 36+6w, weight 0SD; length -3.5SD, BMI 21; severe developmental delay/intellectual disability; 7y-walk with assistance; no speech; 10y-epilepsy; 9m-loss of babbling; increased reflexes, tremor of the upper extremities, wide-based gait; autistic behaviour (stereotypies); MRI brain abnormal myelination; broad forehead; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness, protruding tongue; no hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; skin large hyperpigmented region on the abdomen; no umbilical hernia; normal eyes; no hearing loss; chronic constipation; no recurrent infections
1
1
Johan den Dunnen
00320342
Pat11
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
pregnancy uncomplicated; no neonatal features; birth 36+6w, weight –0.5SD, length -1SD, OFC –1.8SD; length -2.5SD, BMI 17.5; severe developmental delay/intellectual disability; not walking; no speech; 5y-seizure; no developmental regression; hypotonia, mild spasticity (left side); no behavioural issues; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; no pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet left; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; body asymmetry; no recurrent infections
1
1
Johan den Dunnen
00320343
Pat12
PubMed: Lehalle 2020
-
F
-
-
-
-
-
-
-
ID
no neonatal features; birth 39w, weight –1SD, length -1SD, OFC –1SD; length 1SD, OFC +0.5SD, BMI 95th; significant developmental delay; not walking; no speech; no epilepsy; no developmental regression; hypotonia; no behavioural issues; widely spaced eyes; flat nasal bridge; no coarseness; no hypertrichosis; thick lips; no pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; abnormal skin pigmentation; no umbilical hernia; normal eyes; conductive hearing loss; –; no recurrent infections
1
1
Johan den Dunnen
00320344
Pat13
PubMed: Lehalle 2020
-
M
-
-
Europe
-
-
-
-
ID
pregnancy gestational diabetes; 4m-hepatomegaly; birth 41w, weight –0.5SD, length -1SD, OFC –1SD; length -4SD, OFC -1SD, BMI 23; severe developmental delay/intellectual disability; not walking; no speech; <1y-epilepsy; no developmental regression; spastic tetraplegia, ataxic gait; autistic behaviour (stereotypies, self-injuries) sleep disturbance; MRI brain unspecific changes in paraventricular myelination, generalised cerebral atrophy, retrocerebellar arachnoid cyst; flat face; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dysplasia; genu valgum; no club feet; skeletal X-rays advanced bone age; normal skin pigmentation; umbilical hernia; strabismus, severe myopia, retinal degeneration; no hearing loss; clubbing of fingers, splenomegaly, anteriorly displaced anus, kidney asymmetry; recurrent lung infections
1
1
Johan den Dunnen
00320345
Pat14
PubMed: Lehalle 2020
-
M
-
-
Ashkenazi-Jewish
-
-
-
-
ID
pregnancy uncomplicated; no neonatal features; birth weight -1SD; length 2SD, OFC 0SD, BMI 16; severe developmental delay/intellectual disability; 30m-walk; no speech; no epilepsy; no developmental regression; hypotonia; autistic behaviour; MRI brain normal; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; oculomotor apraxia; no hearing loss; interstitial lung disease, chronic diarrhoea; no recurrent infections
1
1
Johan den Dunnen
00320346
Pat15
PubMed: Lehalle 2020
-
M
-
-
Europe
-
-
-
-
ID
no neonatal features; length -1SD, OFC 1SD, BMI 21.3 (>95th); severe developmental delay/intellectual disability; 3y-walk; na; no epilepsy; no developmental regression; no neurological phenotype; autism; MRI brain normal; no widely spaced eyes; no anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; thick lips; pink and full cheeks; no almond-shaped eyes; no thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; strabismus; no hearing loss; posterior plagiocephaly; no recurrent infections
1
1
Johan den Dunnen
00320347
Pat16
PubMed: Lehalle 2020
-
M
-
-
-
-
-
-
-
ID
neonatal jaundice; birth 33w; length -2.63SD, OFC +1.9SD, BMI 20 (>95th); severe developmental delay/intellectual disability, 4y-sit; not walking; no speech; epilepsy; no developmental regression; hypotonia, spasticity; autistic behaviour, sleep disturbance; MRI brain arachnoid cyst, Dandy-Walker malformation; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet; skin Blaschko’s lines; cortical visual impairment, strabismus, amblyopia; hearing loss; chronic lung disease (4 m.), sleep apnoea syndrome; recurrent infections, neutropenia
1
1
Johan den Dunnen
00320348
{at4/Pat17
PubMed: Villegas 2019
,
PubMed: Lehalle 2020
-
M
-
France
-
-
-
-
-
ID
pregnancy uncomplicated; neonatal cholestasis, hepatomegaly, hypoglycaemia; birth at term, weight -1SD, OFC +1SD; length -4.5, OFC -0.4, BMI 16.6 (80th) ; severe developmental delay/intellectual disability; not walking; no speech; 1d-epilepsy; no developmental regression; hypotonia; sleep disturbance; MRI brain hydrocephaly, periventricular white matter lesions; prominent forehead; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hip dislocation; no club feet; normal skeletal X-rays (thorax); skin Blaschko’s lines; umbilical hernia; normal eyes; hearing loss; bronchomalacia, cardiac left ventricle dilatation, hypospadias, clubbing of fingers; recurrent infections
1
1
Johan den Dunnen
00320349
Pat1
PubMed: Diaz 2020
-
F
-
United States
-
-
-
-
-
ID
no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3.5y-walk; speech few words; developmental regression; hand stereotypies; no epilepsy; hypotonia; MRI brain normal; coarse facies; height -0.4SD, BMI 38.1 (obese), OFC +2.7SD; skin Blaschkoid pigmentary mosaicism; no umbilical hernia; no orthopedic anomalies; no strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder
1
1
Johan den Dunnen
00320350
Pat2
PubMed: Diaz 2020
-
F
-
United States
-
-
-
-
-
ID
no neonatal course; severe developmental delay/intellectual disability; autism spectrum disorder; 3y-walk; speech few words; developmental regression; hand stereotypies; 32m-epilepsy; hypotonia; MRI brain normal; coarse facies; height +0.16SD, BMI 18.5 (overweight), OFC +1.39SD; skin Blaschkoid pigmentary mosaicism; umbilical hernia; orthopedic anomalies; strabismus; hepatomegaly; recurrent otitis media; clinical suspicion for lysosomal storage disorder
1
1
Johan den Dunnen
00425650
195453
-
-
F
no
Germany
-
-
-
-
-
MRX
Delayed speech and language development, Global developmental delay, Absent speech, Broad-based gait
1
1
Andreas Laner
00444505
Pat7
PubMed: Riquin 2023
patient
F
-
France
-
-
-
-
-
NDD
Hypotonia, severe global developmental delay, behavior troubles, trunk hyperpigmentation, short stature -3 SD, bilateral hearing impairement, short corpus callosum
1
1
Johan den Dunnen
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