Global Variome shared LOVD
OPHN1 (oligophrenin 1)
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All individuals with variants in gene OPHN1
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.
34 entries on 1 page. Showing entries 1 - 34.
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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
-
-
0
-
-
CHTE
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)
7
1
Yu Sun
00000209
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
0
-
-
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)
8
1
Yu Sun
00016958
19377126-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
12
Lucy Raymond
00016959
19377127-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00016960
19377128-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00016961
19377129-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
0
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
MRX;IDX
-
1
1
Lucy Raymond
00017018
Fam11
PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
-
? (unknown)
?
-
0
-
-
MRX;IDX
brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney
1
2
Andreas Tzschach
00052110
-
-
-
-
-
-
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
-
1
1
Talia Schwartz
00052112
-
-
-
-
-
-
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
psychomotor retardation, epilepsy, craniofacial dysmorphism
1
1
Talia Schwartz
00052113
-
-
-
-
-
-
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
-
1
1
Talia Schwartz
00052130
-
PubMed: Billuart 1998
,
Journal: Billuart 1998
5-generation family, 4 affected males, 7 unaffected heterozygous carrier females
M
no
France
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
-
1
4
Johan den Dunnen
00052131
09582072-Pat
PubMed: Billuart 1998
,
Journal: Billuart 1998
female patient
F
-
France
-
-
0
-
-
MRX;IDX
mild mental retardation
1
1
Johan den Dunnen
00052132
-
PubMed: Philip 2003
,
Journal: Philip 2003
3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females
M
no
France
-
-
0
-
-
MRD20
see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected
1
6
Johan den Dunnen
00052133
-
PubMed: Philip 2003
,
Journal: Philip 2003
2-generation family, 1 affected
M
no
France
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
born at term, pregnancy and delivery uneventful; 2y-psychomotor delay; walk-18m, language severely delayed; 11y-brain CT scan retrocerebellar cyst with tentorial dysplasia, small vermis, dilated ventricles requiring ventriculoperitoneal shunting; 13y-dysmorphic features, deeply set eyes, prominent roof nose, prominent chin, OFC 57.5cm (>97th), weight 63kg (>97th), height 158.5cm (50th), poor reading, writing not acquired; according to parents behavioural problems, instability, intolerance to frustration
1
1
Johan den Dunnen
00132973
-
-
-
M
-
(Germany)
-
-
0
-
-
?
Intellectual disability, severe (HP:0010864); Seizures (HP:0001250); Microcephaly (HP:0000252)
1
1
IMGAG
00144613
-
-
-
M
-
(Germany)
-
-
0
-
-
?
Global developmental delay (HP:0001263); Seizures (HP:0001250); Postnatal microcephaly (HP:0005484)
1
1
IMGAG
00180163
29286531-Pat15
PubMed: Tumienė 2018
-
-
-
(Slovenia)
-
-
0
-
-
?
Epilepsy (HP:0001250), moderate intellectual disability (HP:0002342), nystagmus (HP:0000639). Head MRI: cerebellar hypoplasia (HP:0001321), corpus callosum hypoplasia (HP:0002079), oligohydramnios (HP:0001562).
1
1
Johan den Dunnen
00183113
25644381-FamT10
PubMed: Hu 2016
family, 2 affected, 6 unaffected heterozygous carrier females
M
-
-
-
-
0
-
-
MRX;IDX
-
1
2
Johan den Dunnen
00183114
25644381-FamMRX26/D43
PubMed: Hu 2016
family, 1 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
0
-
-
MRX;IDX
-
1
1
Johan den Dunnen
00183159
25644381-FamT144
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
0
-
-
MRX;IDX
-
1
2
Johan den Dunnen
00183160
25644381-FamAU49
PubMed: Hu 2016
family, 1 affected, 3 unaffected heterozygous carrier females
M
-
-
-
-
0
-
-
MRX;IDX
-
1
1
Johan den Dunnen
00183168
25644381-FamAU14
PubMed: Hu 2016
family, 4 affected, 3 unaffected heterozygous carrier females
M
-
-
-
-
0
-
-
MRX;IDX
-
1
4
Johan den Dunnen
00183170
25644381-FamAU90
PubMed: Hu 2016
family, 1 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
0
-
-
MRX;IDX
-
1
1
Johan den Dunnen
00295083
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
49
Mohammed Faruq
00305316
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
?
-
1
33
Mohammed Faruq
00307050
FamB
PubMed: Nuovo 2021
3-generation family, 2 affected males, 3 unaffected heterozygous carrier females
M
yes
-
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression.
1
2
Sara Nuovo
00307068
FamB
PubMed: Nuovo 2021
2-generation family, 1 affected, unaffected carrier mother
M
-
Italy
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
Uneventful pregnancy and delivery. Developmental delay with prevalent impairment of language skills. Macrocephaly (>97°), slight dysmorphic features (including prominent auricle, thin upper lip, fleshy lower lip, and thinning of the inner third of the eyebrows). Autistic traits, hyperactivity, severe-moderate intellectual disability (IQ 41 with a severe impairment of adaptive skills) and oral dyspraxia. Generalized epilepsy (EEG detecting active multifocal abnormalities), treated with valproic acid. Cerebellar vermis hypoplasia and thin corpus callosum on brain MRI.
1
1
Sara Nuovo
00307757
UK10K_FINDWGA5411200
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
0
-
-
ID
-
1
1
Johan den Dunnen
00307758
UK10K_FINDWGA5411352
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
0
-
-
ID
-
1
1
Johan den Dunnen
00361599
10DG0165
PubMed: Anazi 2017
simplex case
M
yes
Saudi Arabia
-
-
0
-
-
ID
syndromic; global developmental delay, hydrocephalus, syndactyly
1
1
Johan den Dunnen
00374799
R-0518
PubMed: Ganapathy 2019
-
-
-
India
-
-
0
-
-
?
-
1
1
Johan den Dunnen
00380821
?
PubMed: Nair 2018
-
?
-
Lebanon
-
-
0
-
-
mental retardation, X-linked, with cerebellar hypoplasia, distinctive facial appearance (formerly MRX-60)
ID; cerebellar hypoplasia (Neurological)
1
1
LOVD
00392294
CMS2401
-
-
M
no
(United States)
white
0
0
-
-
epilepsy, X-linked, with variable learning disabilities and behavior disorders
Pathogenic variants in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with a phenotype typically consisting of cerebellar hypoplasia, ventriculomegaly, seizures, facial dysmorphism, speech delay and sometimes behavioral difficulties. We describe a male patient with global developmental delay, and cerebellar hypoplasia and other neuroanatomical findings suggestive of a Dandy-Walker malformation. The clinical pontocerebellar hypoplasia sequencing panel revealed a partial duplication from exon 7 to exon 15 in OPHN1, which was maternally inherited. PCR-Sanger sequencing of cDNA showed a truncating frameshift in the OPHN1 transcript. Further, transcript level analysis of OPHN1 showed a 75% reduction in the total expression in the patient in comparison to controls. Presumably this leads to a similar reduction in the level of OPHN1 protein resulting in the observed phenotype. This is the first report of a partial duplication of exons 7-15 in OPHN1 in a patient with strabismus, speech delay, dysmorphic facial features, epilepsy, an autism-like phenotype, and developmental delay.
1
1
Dr. Laxmi Kirola
00392513
-
-
-
M
no
(United States)
white
0
0
-
-
?
-
1
1
Dr. Laxmi Kirola
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