Disease #07272 (LESKRES (Lessel-Kreienkamp syndrome), OMIM:619149)

Official abbreviation	LESKRES
Name	Lessel-Kreienkamp syndrome
OMIM ID	619149
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	45
Phenotype entries for this disease	45
Associated with 1 gene	EIF2C2
Associated tissues	-
Disease features	delayed speech development (0.97), intellectual disability (0.97), motor delay (0.93), impaired receptive language (0.81), muscular hypotonia (0.69), autistic traits (0.58), attention deficit hyperactivity disorder (0.56), gait abnormalities (0.52), MRI brain structural abnormalities (0.44); dysmorphic features , epicanthic folds (0.52), thin upper lip (0.48), open mouth appearance (0.48), congenital craniofacial anomalies (0.40)
Remarks	-
Date created	2026-07-13 09:31:56 +02:00 (CEST)
Date last edited	2026-07-16 16:03:44 +02:00 (CEST)

Individuals

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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
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? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
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Botswana
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
(Burkina Faso)
Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
(Chile)
China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Cook Islands
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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France
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Georgia
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Germany
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Guam
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Guatemala
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Guinea
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Guinea-Bissau
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Guyana
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Honduras
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Hong Kong
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Hungary
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Iceland
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India
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Indonesia
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Iran
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Iraq
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Ireland
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Israel
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Italy
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Japan
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Jordan
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Kazakhstan
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Kenya
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Kiribati
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Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
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Latvia
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Lebanon
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Lesotho
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Liberia
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Libya
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Macau
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Malawi
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Malaysia
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New Zealand
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Pakistan
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Panama
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Paraguay
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Peru
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Pitcairn
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Poland
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Polynesia, French
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Portugal
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Puerto Rico
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Qatar
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Reunion
(Reunion)
Romania
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Russia
(Russia)
Russian Federation
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Rwanda
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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
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
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(Soviet Union (former))
Spain
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
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Suriname
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Svalbard and Jan Mayen Islands
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Swaziland
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Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
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Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
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Thailand
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Togo
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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.

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Operator	Column type	Example	Matches
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^	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'
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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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'
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45 entries on 1 page. Showing entries 1 - 45.

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
00481269	Pat1	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, affected mother)3 children	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	4	Davor Lessel
00481270	Pat2	PubMed: Tibbe 2026, Journal: Tibbe 2026	son	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481271	Pat3	PubMed: Tibbe 2026, Journal: Tibbe 2026	son	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481272	Pat4	PubMed: Tibbe 2026, Journal: Tibbe 2026	son	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481273	Pat5	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481274	Pat6	PubMed: Tibbe 2026, Journal: Tibbe 2026	patient	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481275	Pat7	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481276	Pat8	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481277	Pat9	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481278	Pat10	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481279	Pat11	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 3 affected (child/father/sister)	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	3	Davor Lessel
00481280	Pat12	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481281	Pat13	PubMed: Tibbe 2026, Journal: Tibbe 2026	patient	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481282	Pat14	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481283	Pat15	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481284	Pat16	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481285	Pat17	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481286	Pat18	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481287	Pat19	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481288	Pat20	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481289	Pat21	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481290	Pat22	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481291	Pat23	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481292	Pat24	PubMed: Tibbe 2026, Journal: Tibbe 2026	patient	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481293	Pat25	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481294	Pat26	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481295	Pat27	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481296	Pat28	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481297	Pat29	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 2 affected sibs, mosaic mother	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	2	Davor Lessel
00481298	Pat30	PubMed: Tibbe 2026, Journal: Tibbe 2026	sib	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481299	Pat31	PubMed: Tibbe 2026, Journal: Tibbe 2026	patient	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481300	Pat32	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481301	Pat33	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481302	Pat34	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481303	Pat35	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481304	Pat36	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481305	Pat37	PubMed: Tibbe 2026, Journal: Tibbe 2026	patient	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481306	Pat38	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, affected son/father	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	2	Davor Lessel
00481307	Pat39	PubMed: Tibbe 2026, Journal: Tibbe 2026	father	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481308	Pat40	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 2 affected (child/mother)	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	2	Davor Lessel
00481309	Pat41	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481310	Pat42	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481311	Pat43	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, mosaic father	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481312	Pat44	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel
00481313	Pat45	PubMed: Tibbe 2026, Journal: Tibbe 2026	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	LESKRES	see paper; ...	-	EIF2C2	1	1	Davor Lessel

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Global Variome shared LOVD