All individuals with variants in gene IL1RAPL1

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
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	2	1	Global Variome, with Curator vacancy
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	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)	3	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	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)	2	1	Yu Sun
00017841	-	PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015	3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother	M	no	-	-	-	-	-	-	ID	see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round face, neurological examination normal; PatIII2 (female, 10y) ID needing special care	1	3	Pierre Billuart
00017846	-	PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015	2-generation family, affected male, carrier mother/sister	M	no	-	-	-	-	-	-	ID	see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties	1	1	Pierre Billuart
00017851	-	PubMed: Tarpey 2009; PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015	2-generation family, 2 affected males, carrier mother	M	no	(France)	-	-	-	-	-	ID	see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference, normal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence	1	2	Pierre Billuart
00017895	19377158-Pat?	PubMed: Tarpey 2009	-	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	1	1	Lucy Raymond
00017896	19377159-Pat?	PubMed: Tarpey 2009	-	M	?	-	-	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	-	MRX;IDX	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	1	1	Lucy Raymond
00017898	-	PubMed: Carrie 1999	2-generation family, 3 affected brothers	M	no	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00017899	-	PubMed: Carrie 1999	-	M	no	-	-	-	-	-	-	MRX;IDX	-	1	1	Johan den Dunnen
00029652	-	PubMed: Ramos-Brossier 2015, Journal: Ramos-Brossier 2015	family, 2 affected brothers	M	-	-	-	-	-	-	-	ID	-	1	2	Johan den Dunnen
00029653	-	PubMed: Piton 2008, Journal: Piton 2008	-	F	no	Canada	French Canadian	-	-	-	-	autism	see paper; Asperger, autism, no language delay, no intellecutal disability, functioning borderline range intelligence (5h centile Wechsler Intelligence Scale for Children), fluid intelligence around the 25th centile (Raven Matrices Test), adaptation level below the 2nd centile (Vinland Adaptive Behavior Scale).	1	1	Johan den Dunnen
00029654	-	PubMed: Piton 2008, Journal: Piton 2008	142 ASD cases	M	-	United Kingdom (Great Britain)	Anglo-Saxon	-	-	-	-	autism	-	1	1	Johan den Dunnen
00029655	-	PubMed: Piton 2008, Journal: Piton 2008	190 controls	M	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00029656	-	PubMed: Piton 2008, Journal: Piton 2008	-	M	-	Canada	French Canadian	-	-	-	-	autism	-	1	1	Johan den Dunnen
00029657	-	PubMed: Piton 2008, Journal: Piton 2008	-	M	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00029658	-	PubMed: Piton 2008, Journal: Piton 2008	-	F	-	Canada	French Canadian	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00029659	-	PubMed: Piton 2008, Journal: Piton 2008	2-generation family, 3 affected brothers, unaffected carrier mother	M	-	-	-	-	-	-	-	ID	see paper; PatII3 (8y) intellectual disability, autistic signs (too severely affected to be formally tested), ..	1	3	Johan den Dunnen
00029661	-	PubMed: Carrie 1999	-	M	-	(France)	-	-	-	-	-	MRX;IDX	-	1	1	Johan den Dunnen
00029662	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, MRT	-	1	1	Johan den Dunnen
00029663	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, GKD, ID	-	1	1	Johan den Dunnen
00029664	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, ID	-	1	1	Johan den Dunnen
00029665	-	PubMed: Carrie 1999	-	M	-	-	-	-	-	-	-	AHC, ID	-	1	1	Johan den Dunnen
00029674	-	PubMed: Tabolacci 2006, PubMed: Kozak 1993	3-generation family, 4 affected males, 5 carrier females	-	no	Italy	-	-	-	-	-	MRX;IDX	see paper; 2 females with learning difficulties	1	4	Johan den Dunnen
00029675	-	PubMed: de Brouwer 2007, PubMed: Kerr 1992	-	M	-	-	European	-	-	-	-	MRX;IDX	see paper	1	1	Johan den Dunnen
00029677	-	PubMed: Nawara 2008	4-generation family, 4 affected males, 4 carrier females	M	-	France	-	-	-	-	-	MRX;IDX	see paper; ...	1	4	Johan den Dunnen
00034404	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034406	-	PubMed: Zhang 2004	-	M	-	-	-	-	-	-	-	AHC, GKD, MRX;IDX	intellectual disability (HP:0001249)	1	1	Johan den Dunnen
00034407	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034408	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034411	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034412	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034413	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034414	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034415	-	PubMed: Zhang 2004, Journal: Zhang 2004	-	M	no	United States	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00034417	-	PubMed: Piko 2009	analysis 135 BMD/DMD cases	?	-	Hungary	-	-	-	-	-	MRX;IDX	-	1	1	Johan den Dunnen
00034418	-	PubMed: Piko 2009	analysis 135 BMD/DMD cases	?	-	Hungary	-	-	-	-	-	AHC, GKD, MRX;IDX	-	1	1	Johan den Dunnen
00122371	10757639-Fam4482	PubMed: Jin 2000, PubMed: Greener 2002	2-generation family, 3 affected brothers (12y, 14y, 17y)	M	no	United Kingdom (Great Britain)	-	-	-	-	-	AHC, DMD, GKD	all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal hypoplasia; all bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild mental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82 (mean 72), eldest expected to perform similarly	1	3	Johan den Dunnen
00168113	-	PubMed: Du 2018	-	M	-	China	-	-	-	-	-	autism	-	1	1	Fei Li
00183136	25644381-FamN14	PubMed: Hu 2016	family, 3 affected, 1 unaffected heterozygous carrier female	M	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Johan den Dunnen
00269499	Pat8	PubMed: Mikhail 2011, Journal: Mikhail 2011	-	M	-	-	-	-	-	-	-	?	see paper; ..., developmental delay, intellectual disability, no behavioral problems, no seizures, language delay, microcephaly, triangular shaped face, mild hypertelorism, upslanted palpebral fissures, diminished tone and strength	1	1	Johan den Dunnen
00289039	Case1	PubMed: Korkut 2016	-	M	-	Turkey	-	-	-	-	-	?	see paper; ..., 36d-difficulty to feed, vomiting, weight loss; similarly affected brother died at 7m	1	1	Johan den Dunnen
00289040	case2	PubMed: Korkut 2016	-	M	-	Turkey	-	-	-	-	-	?	see paper; ..., 18d- reduced breastfeeding, vomiting, weight loss	1	1	Johan den Dunnen
00289438	Pat1	PubMed: Heide 2015	-	F	-	France	-	-	-	-	-	ID	pregnancy marked by breakthrough bleeding during first trimester, prenatal ultrasound examination normal; birth 39w, normal measurements; neonatal period uneventful; sit-9m, walk-18m initially difficult with frequent falls; expressive language delayed; hyperopia, multiple serous otitis; 7y-WISC low scores intellectual quotient (50-63); 7y-normal growth height, weight and head circumference; able to write name, recognize alphabet letters; mild joint laxity, no dysmorphic features, no motor deficiency; normal serum CK level; ECG normal, cardiac ultrasound normal, MRI brain normal	1	1	Johan den Dunnen
00289439	Pat2	PubMed: Heide 2015	-	F	-	France	-	-	-	-	-	ID	uneventful pregnancy; normal birth measurements; sit-10m, walk-18m; language delayed, 5y-first words; 11y-not able to read or write; 10y-muscular pains during physical exercises, initially on feet, extending to legs and hands, associated with severe muscular fatigue; no motor deficiency, morphology 'athletic', global muscular hypertrophy; elevated CK (579 U/l, normal <160 U/l); no myoglobinuria, ECM myogenic pattern, muscle biopsy indicated non-specific histology; ECG and cardiac ultrasound normal; 16y-generalized epilepsy response to monotherapy; MRI brain normal; no dysmorphic features	1	1	Johan den Dunnen
00295985	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of nervous system physiology (HP:0012638); Motor delay (HP:0001270); Neurological speech impairment (HP:0002167); Language impairment (HP:0002463)	1	1	Andreas Laner
00296775	APN-82	PubMed: Redin 2014	analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother	M	-	France	-	-	-	-	-	ID	see paper; ..., moderate intellectual disability	1	2	Johan den Dunnen
00307743	UK10K_FINDWGA5410964	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307744	UK10K_FINDWGA5411107	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00307745	UK10K_FINDWGA5410971	PubMed: Grozeva 2015, Journal: Grozeva 2015	-	M	-	-	-	-	-	-	-	ID	-	1	1	Johan den Dunnen
00374764	S-151	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00428767	Pat21	PubMed: Hiatt 2023, Journal: Hiatt 2023	2-generation family, 1 affected, unaffected parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., speech delay, no motor delay, intellectual disability, autistic traits, behavioral problems, dysmorphism, hypospadias	1	1	Johan den Dunnen

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Global Variome shared LOVD

IL1RAPL1 (interleukin 1 receptor accessory protein-...)