Global Variome shared LOVD
OSGEP (O-sialoglycoprotein endopeptidase)
LOVD v.3.0 Build 30b [
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Global Variome, with Curator vacancy
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All individuals with variants in gene OSGEP
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.
31 entries on 1 page. Showing entries 1 - 31.
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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
00095419
-
-
-
F
yes
Palestine
-
06y
-
yes
-
DD
Hypotonia, microcephaly, speech delay, renal disease (hypomagnesemia)
1
1
Asaf Ta-Shma
00164423
-
-
-
M
-
(Germany)
-
-
-
-
-
?
Encephalopathy (HP:0001298); Microcephaly (HP:0000252); Nephrotic syndrome (HP:0000100)
1
1
IMGAG
00325393
Pat6
PubMed: Hong 2020
-
M
-
Taiwan
-
-
-
-
-
?
21d-onset seizures; 6m-deceased; focal seizures; severe cognitive delay
1
1
Johan den Dunnen
00431257
CP
PubMed: Braun 2017
-
F
no
-
American Indian
-
-
-
-
NPHS
3.5y-proteinuria, no end stage renal disease, alive with normal renal function; primary microcephaly, developmental delay, hypotonia (trunk), spasticity (lower limbs) coordination disorder, intellectual disability; MRI cranial cerebellar atrophy/ hypoplasia; prominent large ears, frontal bossing, broad nasal bridge, high-arched palate and scarce eyebrows, eczema initially; hypomagnesemia; proteinuria (non-nephrotic), medullary nephro- alcinosis
1
1
Johan den Dunnen
00431258
B377
PubMed: Braun 2017
family, 2 affected, brother died 12d
M
no
China
-
3m
-
-
-
NPHS
1d-proteinuria; 1m-end stage renal disease; 3m-died; primary microcephaly, developmental delay, opisthotonos; MRI cranial broad gyri and hypoplasia of sulci in frontotemporal areas, possible leukoencephalopathy, subdural fluid collection; hypertelorism, deep-set eyes, micrognathia skeletal: arachnodactyly; oligohydramnios, intrauterine growth restriction (2496 g at 40w ga), lactic aciduria, pulmonary edema, aspiration pneumonia; congenital nephrotic syndrome
1
2
Johan den Dunnen
00431259
B58
PubMed: Braun 2017
-
M
no
Taiwan
China
3m
-
-
-
NPHS
1d-proteinuria; no end stage renal disease; 3m-died; biopsy minimal change nephrotic syndrome, thin basement membrane nephropathy?; primary microcephaly, seizures, developmental delay; MRI cranial abnormal gyration, diffuse cerebral cortical atrophy; narrow forehead, hypertelorism, epicanthal folds, deep-set eyes, large and floppy left ear , micrognathia vision/hearing: bilateral mild hearing impairment skeletal: arachnodactyly; congenital nephrotic syndrome
1
1
Johan den Dunnen
00431260
15M1869
PubMed: Braun 2017
-
F
no
Taiwan
China
3m
-
-
-
NPHS
6w-proteinuria; no end stage renal disease; 3m-died; biopsy mild glomerular changes, irregular thickness glomerular basement membrane; primary microcephaly, seizures, hypotonia, developmental delay; MRI cranial subdural fluid accumulations in left frontal temporal parietal and right frontal parietal lobes, lack of myelination; narrow forehead, deep-set eyes, floppy ears, micrognathia skeletal: arachnodactyly vision/hearing: bilateral severe hearing and visual-cortical dysfunction; intrauterine growth restriction (2460 g at term); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431261
15M1870
PubMed: Braun 2017
-
M
no
Taiwan
China
98d
-
-
-
NPHS
1d-proteinuria; no end stage renal disease; 14w-died; primary microcephaly; MRI cranial simplified gyri and sulci, pachygyria in the frontal lobes, reduced density of the frontal white matter; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2350 g at 36w ga); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431262
15M2114
PubMed: Braun 2017
-
M
no
Taiwan
China
6m
-
-
-
NPHS
1m-proteinuria; no end stage renal disease; 6m-died; primary microcephaly; MRI cranial brain atrophy, hypodense cerebral white matter, thin corpus callosum; floppy ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (840 g at 28w ga); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431263
15M2118
PubMed: Braun 2017
-
M
no
Taiwan
China
5m
-
-
-
NPHS
1m-proteinuria; no end stage renal disease; 5m-died; biopsy diffuse foot process effacement; primary microcephaly, abnormal eeg recordings with diffuse cortical dysfunction; MRI cranial cerebral and cerebellar atrophy, simplified frontal and temporal gyration, white matter changes; flat nasal bridge, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2034 g at 39w ga); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431264
15M2121
PubMed: Braun 2017
-
F
no
Taiwan
China
5m
-
-
-
NPHS
1m-proteinuria; 2m-end stage renal disease; 5m-died; biopsy foot process effacement irregular glomerular basement membrane; primary microcephaly, poor development, hypotonia, poor sucking power, abnormal eeg; MRI cranial abnormal gyration, cortical dysplasia, periventricular white mater changes, hypomyelination, enlarged subdural spaces and ventricles, mild cerebellar atrophy; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1760 g at 37w ga); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431265
B63
PubMed: Braun 2017
family, 2 affected sibs
M
no
Taiwan
China
5m
-
-
-
NPHS
1m-proteinuria; 4m-end stage renal disease; 5m-died; primary microcephaly, seizures, developmental delay, hypotonia; MRI cranial frontal pachygyria, cerebral atrophy, poor myelination, subependymal cysts, bilateral ventricular dilation; prominent occiput, prominent glabella, micrognathia vision/hearing: bilateral auditory and visual dysfunction shown by aep/ visual evoked potential skeletal: camptodactyly, arachnodactyly, clenched hands, mild hip contractures; intrauterine growth restriction, low-positioned nipples, cryptorchidism, relatively small penis; congenital nephrotic syndrome
1
2
Johan den Dunnen
00431266
15M2113
PubMed: Braun 2017
sib
F
no
Taiwan
China
3m
-
-
-
NPHS
2d-proteinuria; no end stage renal disease; 3m-died; primary microcephaly seizures, hypotonia; MRI cranial simplified frontotemporal gyri and sulci, encephalomalacia; small, narrow forehead, prominent glabella, hypertelorism, deep-set eyes, prominent, floppy ears, micrognathia skeletal: arachnodactyly; larygomalacia, swallowing disturbance, aspiration pneumonia; significant lactic aciduria; congenital nephrotic syndrome
1
1
Johan den Dunnen
00431268
DS
PubMed: Braun 2017
-
M
no
-
Europe
2m15d
-
-
-
NPHS
14d-proteinuria; 2.5m-end stage renal disease; 2.5m-died; primary microcephaly, hypotonia, developmental delay, seizures; MRI cranial pachygria, polymicrogyria skeletal: arachnodactyly, camptodactyly; congenital nephrotic syndrome
1
1
Johan den Dunnen
00431271
B50
PubMed: Braun 2017
-
F
yes
Iran
white
2y6m
-
-
-
NPHS
4m-proteinuria; 2y-end stage renal disease; 2y6m-died; primary microcephaly, developmental delay, severe intellectual disability, spasticity, seizures; large, floppy ears skeletal: short stature heart: atrial septal defect; preterm birth; infantile steroid resistant nephrotic syndrome syndrome
1
1
Johan den Dunnen
00431272
B57
PubMed: Braun 2017
-
M
yes
-
Iran;white;Iraq;Kurdish
2y1m
-
-
-
NPHS
5m-proteinuria; 22m-end stage renal disease; 25m-died; biopsy 1om-focal segmental glomerulosclerosis; primary microcephaly, abnormalities in motor development, speech delay, spasticity vision/hearing: strabism skeletal: short stature; steroid resistant nephrotic syndrome (steroid, immuno-suppression, dialysis)
1
1
Johan den Dunnen
00431276
PN553-21
PubMed: Braun 2017
family, 2 affected sibs
M
yes
Turkey
-
-
-
-
-
NPHS
initially steroid-sensitive nephrotic syndrome; 13y-proteinuria; no end stage renal disease; alive at present; biopsy focal segmental glomerulosclerosis; diabetes mellitus type II
1
2
Johan den Dunnen
00431277
PN553-22
PubMed: Braun 2017
sib
F
yes
Turkey
-
-
-
-
-
NPHS
initially partially steroid-sensitive nephrotic syndrome; 11m--proteinuria; 12y6m-end stage renal disease; 13y-alive; biopsy focal segmental glomerulosclerosis; recurrent headaches, double vision; MRI cranial retro bulbar intra orbital lymphatic malformation; aneurysm of the ascending aorta; nephrotic syndrome
1
1
Johan den Dunnen
00431278
DC
PubMed: Braun 2017
-
F
no
Viet Nam;Thailand
-
2m15d
-
-
-
NPHS
1d-proteinuria; 2m-died; biopsy collapsing focal segmental glomerulosclerosis; primary microcephaly, hypotonia; MRI cranial cerebellar vermis atrophy with prominent interfoliate sulci, thrombosed left transverse sinus, underdeveloped cortical ribbon; hypertelorism, down slanting palpebral fissures heart: atrial septal defect skeletal: camptodactyly (fingers and toes); preterm birth (34w ga); congenital nephrotic syndrome
1
1
Johan den Dunnen
00431280
N2705
PubMed: Braun 2017
family, 2 affected
M
no
-
Afro- Caribbean
-
-
-
-
NPHS
13m-proteinuria, no end stage renal disease, 10y6m-alive with normal renal function; primary microcephaly, developmental delay, aggressive behavior; MRI cranial myelination delay, cerebellar atrophy, atrophy of upper spinal cord and medulla; nephrotic syndrome; older brother 22m-steroid resistant nephrotic syndrome, 14m-died from ESKD
2
2
Johan den Dunnen
00431281
A3729
PubMed: Braun 2017
-
F
no
-
Asia
2y
-
-
-
NPHS
14m-proteinuria; 2y-died; primary microcephaly, seizures, intellectual disability, delay motor milestones, hypotonia; MRI cranial diffuse brain atrophy, atrophic corpus callosum, smaller ventral pons, enlarged subdural/subarachnoid spaces; ptosis, entropion repair skeletal: short stature; infantile nephrotic syndrome
2
1
Johan den Dunnen
00431282
B69
PubMed: Braun 2017
family, 2 affected sibs
M
no
-
white
-
-
-
-
NPHS
3m-proteinuria, 11m-end stage renal disease; primary microcephaly, seizures, myoclonus, developmental delay; MRI cranial lissencephaly; narrow forehead, large, low-set ears, small mouth, micrognathia skeletal: short stature; hiatal hernia
2
2
Johan den Dunnen
00431283
B70
PubMed: Braun 2017
sib
M
no
-
white
-
-
-
-
NPHS
13m-congenital proteinuria; microcephaly, seizures, spasticity, developmental delay; congenital nephrotic syndrome
2
1
Johan den Dunnen
00431284
B80
PubMed: Braun 2017
-
M
no
-
white;Hispanic
19m
-
-
-
NPHS
14m-proteinuria; 19m-died; biopsy 15m-focal segmental glomerulosclerosis; primary microcephaly, myoclonic seizures, developmental delay, hypotonia, spasticity; MRI cranial enlarged subdural/subarachnoidal spaces, poor myelination, gyral simplification, cerebellar atrophy; large, floppy ears, pinched nose vision/hearing: visual impairment; nephrotic syndrome
2
1
Johan den Dunnen
00431285
B84
PubMed: Braun 2017
family, 2 affected
F
no
Taiwan
China
1y9m
-
-
-
NPHS
2d-proteinuria; 1y7m-end stage renal disease; 1y9m-died; primary microcephaly, developmental delay, seizures; MRI cranial pachygyria, bilateral ependymal cyst; broad nose bridge, hypertelorism, large ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1954 g 38w ga); congenital nephrotic syndrome; previous child edema, 5m-renal failure, 13m-died
2
2
Johan den Dunnen
00431288
B1504
PubMed: Braun 2017
-
M
no
-
Hispanic
-
-
-
-
NPHS
6m-proteinuria; 2y-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 6m-focal segmental glomerulosclerosis; primary microcephaly, hypotonia, hyperreflexia, developmental delay, speech delay; MRI cranial poor myelination; dysmorphism vision/hearing: esotropia, hyperopia skeletal: camptodactyly heart: patent ductus arteriosus, atrial septal defect; infantile nephrotic syndrome
2
1
Johan den Dunnen
00431289
N3741
PubMed: Braun 2017
family, affected brother/sister (F, M)
M
no
Jordan
-
6m
-
-
-
NPHS
6m-proteinuria; 6m-end stage renal disease; 6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy, bilateral lissencephaly predominantly in frontotemporal regions, thin corpus callosum; low-set ears, hypertelorism, small down ward slanting eyes; infantile nephrotic syndrome
2
2
Johan den Dunnen
00431290
B83
PubMed: Braun 2017
-
F
no
Netherlands
-
1m15d
-
-
-
NPHS
1m-proteinuria; 1m-end stage renal disease; 6w-died; biopsy diffuse mesangial sclerosis; primary microcephaly, developmental delay; MRI cranial reduced gyration, cerebellar hypoplasia, abnormal myelination; long convex beaked nose, thin upper lip, down turned corners of the mouth, micrognathia, pointed chin skeletal: arachnodactyly, adducted thumbs, dislocated hips, talipes calcaneovalgus (after oligohydramnios); congenital nephrotic syndrome
2
1
Johan den Dunnen
00431291
KW-21
PubMed: Braun 2017
-
F
no
United States
-
2y6m
-
-
-
NPHS
no proteinuria; 2y6m-died; primary microcephaly, seizures; MRI cranial lissencephaly, hypogenesis of corpus callosum; large, floppy ears, unusual fat distribution skeletal: congenital hip dislocation; poor wound healing, mild direct hyperbilirubinemia, elevated ast/ast and alp; no nephrotic syndrome
2
1
Johan den Dunnen
00431292
KW-22
PubMed: Braun 2017
-
M
no
United States
-
-
-
-
-
NPHS
no proteinuria; 7m-alive at present; primary microcephaly; MRI cranial lissencephaly; large, floppy ears, unusual fat distribution; poor wound healing; no nephrotic syndrome
2
1
Johan den Dunnen
00431293
B87
PubMed: Braun 2017
-
F
no
United States
-
-
-
-
-
NPHS
19m-proteinuria; biopsy focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, repetitive movements, hand tapping; MRI cranial cerebellar atrophy; nephrotic syndrome
2
1
Johan den Dunnen
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