All individuals with variants in gene ADNP

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.

77 entries on 1 page. Showing entries 1 - 77.

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
00029826	-	PubMed: Helsmoortel 2014	Patient 1 in the paper	M	no	Belgium	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029827	-	PubMed: Helsmoortel 2014	patient 2 in the paper	F	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029828	-	PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2012 PubMed: O'Roak 2014	patient 3 in the paper	F	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029829	-	PubMed: Helsmoortel 2014	patient 4 in the paper	M	no	Australia	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029830	-	PubMed: Helsmoortel 2014	patient 5 in the paper	M	no	Sweden	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029831	-	PubMed: Helsmoortel 2014	patient 6 in the paper	M	no	Belgium	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029832	-	PubMed: Helsmoortel 2014	patient 7 in the paper	F	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029833	-	PubMed: Helsmoortel 2014	patient 8 in the paper	M	no	Italy	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029835	-	PubMed: Helsmoortel 2014	patien 9 in the paper	F	no	Italy	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029836	-	PubMed: Helsmoortel 2014 PubMed: O'Roak 2012 PubMed: O'Roak 2014	patient 10 in the paper	M	no	United States	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029841	-	PubMed: Pescosolido 2014	-	F	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029842	-	PubMed: Vandeweyer 2014	patient 11 in the paper	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029843	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029844	-	-	-	M	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029846	-	-	-	?	no	Serbia	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029847	-	-	-	F	no	(United Kingdom (Great Britain))	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029848	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029849	-	-	-	F	no	Albania	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029850	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029853	-	PubMed: O'Roak 2014	-	?	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029854	-	PubMed: O'Roak 2014	-	?	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00029855	-	-	-	M	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00030138	-	-	-	F	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00032351	-	-	-	M	no	(Netherlands)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00034045	-	-	-	M	no	United Kingdom (Great Britain)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00034046	-	-	-	M	no	Israel	-	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00034574	-	-	-	F	no	-	-	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00037582	-	-	-	F	no	Ireland	white	-	-	-	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00038534	-	-	-	F	no	Netherlands	white	-	-	-	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00038639	-	-	-	F	no	Australia	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00038764	-	-	-	M	-	Denmark	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00038765	-	-	-	-	-	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00043759	-	-	-	F	-	Norway	white	-	-	yes	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00043760	-	-	-	F	-	France	white	-	-	-	-	HVDAS;MRD28	-	1	1	Céline Helsmoortel
00050404	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, generalized neonatal hypotonia, bilateral ptosis, gastroesophageal reflux, cryptorchidism, plagiocephaly, low-set ears, microtia first degree, broad thumb, respiratory distress	1	1	Johan den Dunnen
00050419	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	intellectual disability, plagiocephaly, obesity, inguinal hernia	1	1	Johan den Dunnen
00050648	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	juvenile cataract, microcephaly, muscular hypotonia of the trunk, inverted nipples, sparse scalp hair, global developmental delay, long palpebral fissure, abnormality of the fingertips, joint laxity	1	1	Johan den Dunnen
00050688	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	constipation, microcephaly, iris coloboma, global developmental delay, delayed speech and language development, delayed speech and language development, joint hypermobility, hirsutism, long palpebral fissure, depressed nasal bridge, depressed nasal bridge, thick lower lip vermilion, widely spaced teeth, drooling, smooth philtrum, autism	1	1	Johan den Dunnen
00079076	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079077	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079078	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079079	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079080	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079082	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079083	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079084	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079085	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079086	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079087	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079088	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079089	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079108	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079109	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079110	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079111	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079112	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079113	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079114	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00079115	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Céline Helsmoortel
00080956	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	HVDAS;MRD28	Helsmoortel-van der Aa syndrome (OMIM:615873)	1	1	Daniel Trujillano
00132966	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Absent speech (HP:0001344); Poor eye contact (HP:0000817)	1	1	IMGAG
00133250	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Intellectual disability, moderate (HP:0002342); Behavioral abnormality (HP:0000708)	1	1	IMGAG
00134039	patient	PubMed: Huynh 2018	-	M	no	France	-	03y10m	-	-	-	HVDAS;MRD28	hypotonia, recurrent respiratory tract infections, pervasive developmental disorder, intellectual disability, psychomotor delay: walk at 2 years, language delay, autistic traits, chronic constipation, facial dysmorphism: prominent forehead, high anterior hairline, hypertelorism, strabismus, wide palpebral fissures, small ears, broad nasal bridge, short nose, long/smooth philtrum, hyperlaxity of joints, ataxic gait.; sleep disturbance	1	1	Minh Tuan Huynh
00144516	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Global developmental delay (HP:0001263); Growth hormone deficiency (HP:0000824); Atrial septal defect (HP:0001631); Lower limb hypertonia (HP:0006895)	1	1	IMGAG
00154974	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Neurodevelopmental delay (HP:0012758); Autistic behavior (HP:0000729); Obesity (HP:0001513)	1	1	IMGAG
00168116	-	PubMed: Du 2018	-	M	-	China	-	-	-	-	-	autism	-	1	1	Fei Li
00180162	29286531-Pat14	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	-	-	-	?	Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), global developmental delay (HP:0001263), intellectual disability (HP:0001249), aggressive behavior (HP:0000718), stereotypic behavior (HP:0000733), agenesis of corpus callosum (HP:0001274), hypothyroidism (HP:0000821), growth hormone deficiency (HP:0000824), abnormality of teeth (HP:0000164).	1	1	Johan den Dunnen
00301409	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Visual impairment (HP:0000505); Delayed speech and language development (HP:0000750); Abnormal facial shape (HP:0001999); Febrile seizures (HP:0002373); Severe global developmental delay (HP:0011344); Psychomotor retardation (HP:0025356); Cognitive impairment (HP:0100543)	1	1	IMGAG
00320351	171106	-	-	M	?	Germany	-	-	-	-	-	MRD	(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Neurodevelopmental delay	1	1	Andreas Laner
00391753	097P	-	-	F	no	Spain	-	-	-	-	-	?	-	1	1	Alejandro Brea-Fernández
00401570	181P	-	-	F	no	Spain	-	-	-	-	-	ID	-	1	1	Alejandro Brea-Fernández
00416241	Pat6	PubMed: Monroe 2016	-	M	-	Netherlands	-	-	-	-	-	ID	moderate non-syndromic intellectual disability	1	1	Johan den Dunnen
00419580	20171	PubMed: Marinakis 2021	-	F	-	Greece	-	-	-	-	-	?	-	1	1	Jan Traeger-Synodinos
00438412	Pat131	PubMed: Chuan 2022	-	F	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0030211 slow pupillary light response; HP:0002353 eeg abnormality; HP:0006956 dilation of lateral ventricles; HP:0001612 weak cry; HP:0001643 patent ductus arteriosus; HP:0001655 patent foramen ovale; HP:0001942 metabolic acidosis; HP:0002901 hypocalcemia; HP:0003073 hypoalbuminemia; HP:0003265 neonatal hyperbilirubinemia; HP:0002094 dyspnea; HP:0030842 choking episodes; HP:0001252 muscular hypotonia	1	1	Johan den Dunnen
00440374	PED2257.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00451686	239229	-	-	M	?	Turkey	-	-	-	-	-	HVDAS;MRD28	Intellectual disability, Delayed speech and language development, Neurodevelopmental delay, Broad-based gait, Microcephaly	1	1	Andreas Laner
00455156	-	PubMed: Kimura 2016	analysis of cohort of schizophrenia and autism spectrum disorder cases	-	-	Japan	-	-	-	-	-	autism	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

ADNP (activity-dependent neuroprotector homeobox)