All individuals with variants in gene CSPP1

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.

52 entries on 1 page. Showing entries 1 - 52.

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
00017647	-	PubMed: Tuz 2014	-	M	no	United States	African American	-	-	-	-	JBTS, SRTD1	see paper;...	1	1	Marianne Vos (LOVD-team)
00017707	-	PubMed: Tuz 2014	-	?	?	Saudi Arabia	Saudi	-	-	-	-	JBTS	see paper; ...	1	1	Marianne Vos (LOVD-team)
00017792	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS, SRTD1	see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,...	2	1	Marianne Vos (LOVD-team)
00017793	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS, SRTD1	see paper; ...	2	1	Marianne Vos (LOVD-team)
00017794	-	PubMed: Tuz 2014	-	?	no	Brazil	Brazillian	-	-	-	-	JBTS	see paper; ...	2	1	Marianne Vos (LOVD-team)
00017795	-	PubMed: Tuz 2014	-	?	no	Brazil	Brazillian	-	-	-	-	JBTS	see paper; ...	2	1	Marianne Vos (LOVD-team)
00017796	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	-	1	1	Marianne Vos (LOVD-team)
00017801	-	PubMed: Tuz 2014	-	?	?	China	Chinese	-	-	-	-	JBTS	Hearing Loss, Ptosis, Tachypnea	2	1	Marianne Vos (LOVD-team)
00017802	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Ptosis, liver fibrosis on biopsy, splenomegaly, elevated transaminases, chronic sinusitis	2	1	Marianne Vos (LOVD-team)
00017803	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Ptosis, elevated transaminases, chronic sinusitis	2	1	Marianne Vos (LOVD-team)
00017804	-	PubMed: Tuz 2014	-	?	?	Turkey	Turkish	-	-	-	-	JBTS	Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism	1	1	Marianne Vos (LOVD-team)
00017805	-	PubMed: Tuz 2014	-	?	?	-	European	-	-	-	-	JBTS	Tachipnea, Retina, Ptosis, Nystagmus, High-arched palate	2	1	Marianne Vos (LOVD-team)
00017806	-	PubMed: Tuz 2014	2-generation family, 2 affected, unaffected heterozygous carrier parents	?	?	-	European, north	-	-	-	-	JBTS	1x Tachypnea, obese, oculomotor apraxia 16y+9y	2	2	Marianne Vos (LOVD-team)
00017807	-	PubMed: Tuz 2014	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	?	?	India	Indian	-	-	-	-	JBTS	UW143-3 (5y):Tachypnea, Ptosis, hypertelorism, CPEO, mild left optic disc pallor UW143-4 (2y): hypertelorism, restricted upward gaze	2	2	Marianne Vos (LOVD-team)
00017808	-	PubMed: Tuz 2014	-	?	?	Lebanon	Lebanese	-	-	-	-	JBTS	Apnea or Tachypnea, Ptosis, Jeune asphyxiating thoracic dystrophy (short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches), nasogastric tube, Hearing Loss, high-arched palate	1	1	Marianne Vos (LOVD-team)
00017809	-	PubMed: Tuz 2014	-	?	?	Brazil	Brazillian	-	-	-	-	JBTS	tachypnea or apnea, ptosis, oculomotor apraxia	2	1	Marianne Vos (LOVD-team)
00017810	-	PubMed: Tuz 2014	-	?	?	India	Indian	-	-	-	-	JBTS	ptosis	1	1	Marianne Vos (LOVD-team)
00017812	-	PubMed: Shaheen 2014	5-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Saudi Arabia	Saudi	<00y00m00d	-	-	-	JBTS	stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia	1	1	Marianne Vos (LOVD-team)
00017813	-	PubMed: Shaheen 2014	-	F	yes	Saudi Arabia	Arab	<00y00m00d	-	-	-	JBTS	stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes	1	1	Marianne Vos (LOVD-team)
00017814	-	PubMed: Shaheen 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	yes	Canada	Hutterite, Schmiedeleut	-	-	-	-	JBTS	global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister)	1	1	Marianne Vos (LOVD-team)
00017815	-	PubMed: Shaheen 2014	2-generation family, 2 affected, unaffected heterozygous carrier parents, sister of 24360803-Fam3PatII2	F	yes	Canada	Schmiedeleut Hutterite	00y00m28d	-	-	-	JBTS	died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating with the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon	1	2	Marianne Vos (LOVD-team)
00017816	-	PubMed: Shaheen 2014	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	M	yes	Canada	Hutterite, Schmiedeleut	00y00m24d	-	-	-	JBTS	died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar peduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen	1	1	Marianne Vos (LOVD-team)
00080861	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	JBTS21	Joubert syndrome 21 (OMIM:615636)	1	1	Daniel Trujillano
00294656	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	205	Mohammed Faruq
00295445	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00305202	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00358850	Fam8	PubMed: Suzuki 2016	-	-	no	Japan	-	-	-	-	-	JBTS	severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly	2	1	LOVD
00372255	UW035-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372256	UW097-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372257	UW097-6	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372258	UW123-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372259	UW124-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372260	UW127-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372261	UW128-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372262	UW129-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372263	UW129-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372264	UW130-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372265	UW137-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372266	UW143-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372267	UW143-4	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372268	UW147-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372269	UW148-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372270	UW151-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00372271	UW290-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00375417	RP#009	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375418	RP#010	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375429	RP#023	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377685	466	PubMed: Brooks 2018	family 72	F	-	United States	-	-	-	-	-	retinal disease	oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, optic nerve atrophy	2	1	LOVD
00377686	387	PubMed: Brooks 2018	family 73	F	-	United States	-	-	-	-	-	retinal disease	oculomotor apraxia, strabismus, ptosis	2	1	LOVD
00388095	466	PubMed: Summers 2017	-	-	-	United States	-	-	-	-	-	retinal disease	-	2	1	LOVD
00401288	family	PubMed: Cebeci 2020	3-generation family, 5 affected (4F, M)	F;M	-	Saudi Arabia	-	-	-	-	-	HR	see paper; ...	1	5	Johan den Dunnen
00426929	32_38	PubMed: Zhu 2022	family 32, individual 38	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD

Legend

How to query

Global Variome shared LOVD

CSPP1 (centrosome and spindle pole associated prote...)