Disease #01657 (GLSP (Gillespie syndrome), OMIM:206700)

Official abbreviation	GLSP
Name	Gillespie syndrome
OMIM ID	206700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	32
Phenotype entries for this disease	32
Associated with 1 gene	ITPR1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2025-11-01 12:10:59 +01:00 (CET)

Individuals

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	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'

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32 entries on 1 page. Showing entries 1 - 32.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00064780	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, affected mother/daugther	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	2	Johan den Dunnen
00064781	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064782	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064783	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064784	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064785	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064786	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064787	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064788	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064789	-	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064790	-	PubMed: McEntagart 2016, Journal: McEntagart 2016, PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	France	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064791	-	PubMed: Gerber 2016, Journal: Gerber 2016	-	F	yes	France	Tunisian	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064792	-	PubMed: Gerber 2016, Journal: Gerber 2016	-	F	yes	Brazil	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064793	-	PubMed: Gerber 2016, Journal: Gerber 2016	-	F	no	France	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00064794	-	PubMed: Gerber 2016, Journal: Gerber 2016	-	F	yes	Guadeloupe	-	-	-	-	-	GLSP	see paper; ...	-	-	-	1	Johan den Dunnen
00072163	Fam1PatII1	PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	-	Morocco	>04y06m	-	-	-	GLSP	bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), no abnormal optical coherence tomography (-HP:0030603), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), severe intellectual disability (HP:0010864), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079), ventricular dilatation (HP:0002119), hymeneal imperforation (HP:?)	ITPR1	ITPR1	1	1	Jamie Zeegers
00072165	Fam2PatII1	PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	-	Brazil	>16y	-	-	-	GLSP	bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), slurred speech (HP:0001350), general hypotonia (HP:0001290), no epileptic seizures (-HP:?), mild intellectual disability (HP:0001256), poor head control (HP:0002421), delay in motor development (HP:0001270), facial dysmorphy (HP:0001999)	ITPR1	ITPR1	1	1	Jamie Zeegers
00072166	Fam3PatII1	PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	France	>07y06m	-	-	-	GLSP	bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), postural tremor (HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), areflexia of lower limbs (HP:0002522), no epileptic seizures (-HP:?), moderate intellectual disability (HP:0002342), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272)	ITPR1	ITPR1	2	1	Jamie Zeegers
00072168	Fam5PatII1	PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	yes	-	France	>01y06m	-	-	-	GLSP	bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), extrapyramidal sign (HP:0002071), no peripheral neuropathy (-HP:0009830), myoclonic seizures (HP:0002123) , poor head control (HP:0002421), no delay in motor development (-HP:0001270), cerebellar atrophy (HP:0001272), marked kyphosis (HP:0002808), left pectoral agenesis (HP:?)	ITPR1	ITPR1	1	1	Jamie Zeegers
00468002	Fam91	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468003	FamPatSVP	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, affected mother/daughter	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	2	Johan den Dunnen
00468004	FamPatWP	PubMed: McEntagart 2016, Journal: McEntagart 2016	daughter	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468005	Fam261348	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468006	Fam263220	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468007	Fam2021	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468008	Fam2018	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468009	Fam5284	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468010	Fam5285	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468011	Fam272179	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468012	Fam291	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468013	Fam2374	PubMed: McEntagart 2016, Journal: McEntagart 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ...	-	ITPR1	1	1	Johan den Dunnen
00468014	Fam1388;Fam4PatII1	PubMed: McEntagart 2016, Journal: McEntagart 2016PubMed: Gerber 2016, Journal: Gerber 2016	2-generation family, 1 affected, unaffected non-carrier parents	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLSP	see paper; ..., bilateral partial aniridia (HP:0011498), no fundus aspect (-HP:?), nystagmus (HP:0000639), ataxia (HP:0001251), no postural tremor (-HP:0002174), slurred speech (HP:0001350), general hypotonia (HP:0001290), no pyramidal sign (-HP:0007256), no extrapyramidal sign (-HP:0002071), no peripheral neuropathy (-HP:0009830), no epileptic seizures (-HP:?), no intellectual disability (HP:0001249), poor head control (HP:0002421), delay in motor development (HP:0001270), cerebellar atrophy (HP:0001272), short 4th metatarsal (HP:0004689)	-	ITPR1	1	1	Johan den Dunnen

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Global Variome shared LOVD

CPT1C (carnitine palmitoyltransferase 1C)