Global Variome shared LOVD
HNRNPU (heterogeneous nuclear ribonucleoprotein U ...)
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All individuals with variants in gene HNRNPU
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
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!
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.
23 entries on 1 page. Showing entries 1 - 23.
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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
00116985
S_500:0/1:CONTROL
PubMed: Bobbili 2018
,
Journal: Bobbili 2018
individual from 567 controls
-
-
-
-
-
-
-
-
Healthy/Control
-
1
1
Dheeraj Bobbili
00144450
-
-
-
?
-
(Germany)
-
-
-
-
-
?
Seizures (HP:0001250); Global developmental delay (HP:0001263)
1
1
IMGAG
00235343
-
-
-
F
-
-
-
-
-
-
-
?
Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Absence seizure (HP:0002121); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252)
1
1
IMGAG
00289796
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
5
Mohammed Faruq
00302768
1464.524;Pat3
PubMed: Hamdan 2015
,
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
M
-
Canada
-
-
-
-
-
ID
birth 41w, weight 3310g (-0.95); weight 17.7kg (+0.62), height 96cm (-1.75), OFC 48.6cm (-1.65); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; generalized tonic-clonic seizures, onset 12m; no prominent metopic ridge; deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; anteverted nares; no bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities; no short neck; low set ears; normal corpus callosum, Broad Sylvian fissures, enlarged sub-arachnoid spaces, discrete non-specific signal anomalies in the white matter in the periventricular region and the right frontal sub-cortical region; feeding difficulties; no hearing deficit; aortic dilatation; unilateral multicystic kidney; bilateral single palmar creases
1
1
Johan den Dunnen
00303109
T162
PubMed: Carvill 2013
2-generation family, 1 affected, unaffected parents
M
-
-
-
-
-
-
-
EE
seizures atonic (2y), atypical absence, myoclonic jerks, non-convulsive status epilepticus, tonic, tonic-clonic; EEG generalised spike wave, generalised polyspike wave, diffuse slowing, single spike wave, generalised paroxysmal fast activity; development prior to seizures delayed; Severe intellectual disability, regression
1
1
Johan den Dunnen
00305979
Pat10
PubMed: Johannesen 2020
2-generation family, 1 affected, unaffected parents
M
-
Denmark
-
-
-
-
-
epilepsy
-
1
1
Johan den Dunnen
00309544
Pat2
PubMed: Sanchis-Juan 2018
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
?
see paper; ..., tonic-clonic seizures; intellectual disability; learning difficulties
1
1
Johan den Dunnen
00314912
TrioN6
PubMed: Zhu 2015
-
M
-
United States
-
-
-
-
-
?
Intellectual disability, epilepsy, panhypopituitarism, hypertension, bifid great toe, vertebral segmentation anomalies and sagittal cleft of the vertebra, hypoplastic 13th rib, and delayed bone age.
1
1
Johan den Dunnen
00332514
175443
-
-
M
?
Germany
-
-
-
-
-
DEE54
(+) Seizure,(+) Global developmental delay,(+) Focal motor seizure,(+) Neonatal seizure
1
1
Andreas Laner
00374754
S-5913
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00416256
Pat15
PubMed: Monroe 2016
-
F
-
Netherlands
-
-
-
-
-
?
intellectual deficit, short stature, macrocephaly, feeding problems, disturbed sleeping pattern, mobility problems requiring wheelchair use
1
1
Johan den Dunnen
00435499
Pat1;Pat17
PubMed: Bramswig 2017
,
PubMed: Rots 2023
2-generation family, unaffected non-carrier parents, no affected relatives
M
-
Germany
-
-
-
-
-
NDD
see both papers; ..., birth 33w; language/speech delay, no speech; motor delay; severe intellectual disability (contributed by Pathogenic HNRNPU variant); no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebral atrophy, multiple lesions including glial lesions, atrophy of the cerebellar vermis, corpus callosum agenesis; no joint hypermobility; no syndactyly; scoliosis; no pectus excavatum; coarse face, deep set elanguage/speech delay, hypertelorism, depressed nasal bridge, short nose, anteverted nares, low set ears, thin upper and everted lower lip vermelion, teeth abnormalities; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (ASD II); neonatal feeding difficulties; agenesis right kidney
1
1
Johan den Dunnen
00435576
Pat2
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
F
no
Netherlands
-
-
-
-
-
NDD
see paper; ..., birth 40w, weight 2780g (-1.64), length 48cm (-1.68); weight 64.7kg (+0.57), height 151cm (-2.13), OFC 52cm (-1.8); severe intellectual disability; microcephaly; short stature; hypotonia; speech impairment, few words; no seizures, fever-related seizures with normal EEG at younger age; prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia, prominent jaw; teeth abnormalities, irregular, small palate; short neck, webbing; no ear abnormalities; feeding difficulties; no hearing deficit; pentalogy of Fallot; no renal abnormalities; short hands and feet, broad thumbs
1
1
Johan den Dunnen
00435577
hc;Pat4
PubMed: Epi4K Consortium. 2013
,
Journal: Epi4K Consortium. 2013
,
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
F
-
-
-
-
-
-
-
NDD
see paper; ..., birth 40w, weight 2640g (-1.97), length 47cm (-2.13); weight 63.6kg (+0.84), height 146.5cm (-2.44), OFC 54.2cm (-0.19); severe intellectual disability; no microcephaly; short stature; hypotonia; speech impairment, 1-2 word utterances; generalized tonic-clonic seizures, atonic insults, absences, Lennox-Gastaut-like epilepsy, onset 62m; no prominent metopic ridge; deep set eyes; hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; no eversion of upper lip; no micro/retrognathia; teeth abnormalities; short neck; low set ears; normal corpus callosum, subependymal gray matter heterotopia, Chiari I malformation; no feeding difficulties; no hearing deficit; autism, aggressive behavior, odontogenic keratocyst
1
1
Johan den Dunnen
00435578
Pat5
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
M
-
Germany
-
-
-
-
-
NDD
see paper; ..., birth 34w, weight 1815g (-1.24); weight 1.89kg (-2.73), height 42cm (-3.42), OFC 27cm (-4.93); microcephaly; short stature; hypotonia; onset neonatal, focal myoclonic seizures; no prominent metopic ridge; no deep set eyes; hypertelorism; no depressed nasal bridge; short nose; no anteverted nares; bulbous nasal tip; long philtrum; thin upper vermillion; micro/retrognathia; short neck; low set ears, big ears; normal corpus callosum, cystic lesion between posterior fossa and 4th ventricle, Dandy Walker malformation; feeding difficulties; patent ductus arteriosus; renal pelvic ectasia; joint contractures, clonus on extremities, hypospadia, scrotal raffe, 10 ribs
1
1
Johan den Dunnen
00435579
Pat6
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
M
-
Netherlands
-
-
-
-
-
NDD
see paper; ..., birth 38w, weight 3400g (+0.3), length 50cm (+0.13), OFC normal; weight 69kg (-0.55), height 175cm (-1.24), OFC 61cm (+1.81); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; onset 10m, seizures, temporal epilepsy evolving into West syndrome, then into severe therapy resistant Lennox-Gastaut-like epilepsy with multiple daily absences, temporal tonic and infrequent atonic seizures sometimes fever-related.; no prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities, thick incisors, accessory incisor in palatum composed of several elements, diastemas between teeth; no short neck; low set ears, slightly overfolded helices; normal corpus callosum, wide ventricles, retarded frontal myelinisation, glandula pinealis cyst; no feeding difficulties; no hearing deficit; no cardiac abnormalities; regression in motor and speech development after onset of epilepsy, secondary osteoporosis, obstipation, rotatory nystagmus, cortical visual impairment
1
1
Johan den Dunnen
00435580
Pat7
PubMed: Bramswig 2017
2-generation family, 1 affected, unaffected non-carrier parents
F
-
Netherlands
-
-
-
-
-
NDD
see paper; ..., birth 38w, weight 2835g (-1.08), length 48cm (-1.34), OFC 32.5cm (-1.71) ; weight 18kg (+1.6), height 96cm (-1), OFC 51cm (+1.02); severe intellectual disability; no microcephaly; no short stature; no hypotonia; speech impairment, words, short sentences; onset 11m, febrile tonic-clonic seizures and absences, later occurring without fever; no prominent metopic ridge; no deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; thin upper vermillion; no eversion of upper lip; no micro/retrognathia; no teeth abnormalities, thick gums; no short neck; no ear abnormalities; normal corpus callosum; no feeding difficulties; no hearing deficit; no cardiac abnormalities; short and broad thumbs, columella thick, fleshy alae nasi
1
1
Johan den Dunnen
00438380
Pat99
PubMed: Chuan 2022
-
M
-
China
-
-
-
-
-
epilepsy
HP:0001250 seizures; HP:0002373 febrile seizures; HP:0011947 respiratory tract infection
1
1
Johan den Dunnen
00438382
Pat101
PubMed: Chuan 2022
-
F
-
China
-
-
-
-
-
epilepsy
HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0010845 eeg with generalized slow activity; HP:0001873 thrombocytopenia; HP:0001945 fever; HP:0002181 cerebral edema; HP:0012387 bronchitis; HP:0100806 sepsis
1
1
Johan den Dunnen
00449798
-
-
-
F
-
- (not applicable)
white
-
-
-
-
ID
HP:0001250, HP:0001263, HP:0001256, HP:0000729, HP:0001252, HP:0000540, HP:0001382
1
1
Marketa Wayhelova
00455826
Pat66
PubMed: Salinas 2020
patient
M
-
-
-
-
-
-
-
?
-
1
1
Johan den Dunnen
00462182
-
-
-
F
-
- (not applicable)
white
-
-
-
-
?
HP:0000252, HP:0001249, HP:0001256, HP:0002389, HP:0004322
1
1
Marketa Wayhelova
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