Disease #04115 (HVDAS;MRD28 (Helsmoortel-Van der Aa syndrome (HVDAS, mental retardation, autosomal dominant syndrome, type 28 syndrome (MRD-28))), OMIM:615873)

Official abbreviation	HVDAS;MRD28
Name	Helsmoortel-Van der Aa syndrome (HVDAS, mental retardation, autosomal dominant syndrome, type 28 syndrome (MRD-28))
OMIM ID	615873
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	39
Phenotype entries for this disease	8
Associated with 1 gene	ADNP
Associated tissues	-
Disease features	autosomal dominant
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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
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.

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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
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Example	Matches
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39 entries on 1 page. Showing entries 1 - 39.

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
00029826	-	PubMed: Helsmoortel 2014	Patient 1 in the paper	M	no	Belgium	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029827	-	PubMed: Helsmoortel 2014	patient 2 in the paper	F	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	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	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029829	-	PubMed: Helsmoortel 2014	patient 4 in the paper	M	no	Australia	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029830	-	PubMed: Helsmoortel 2014	patient 5 in the paper	M	no	Sweden	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029831	-	PubMed: Helsmoortel 2014	patient 6 in the paper	M	no	Belgium	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029832	-	PubMed: Helsmoortel 2014	patient 7 in the paper	F	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029833	-	PubMed: Helsmoortel 2014	patient 8 in the paper	M	no	Italy	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029835	-	PubMed: Helsmoortel 2014	patien 9 in the paper	F	no	Italy	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	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	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029841	-	PubMed: Pescosolido 2014	-	F	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029842	-	PubMed: Vandeweyer 2014	patient 11 in the paper	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029843	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029844	-	-	-	M	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029845	-	-	-	M	-	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	-	-	-	1	Céline Helsmoortel
00029846	-	-	-	?	no	Serbia	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029847	-	-	-	F	no	(United Kingdom (Great Britain))	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029848	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029849	-	-	-	F	no	Albania	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029850	-	-	-	M	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029853	-	PubMed: O'Roak 2014	-	?	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029854	-	PubMed: O'Roak 2014	-	?	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00029855	-	-	-	M	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00030137	-	-	-	M	no	Netherlands	white	-	-	yes	-	HVDAS;MRD28	-	-	-	-	1	Céline Helsmoortel
00030138	-	-	-	F	no	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00032351	-	-	-	M	no	(Netherlands)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00034045	-	-	-	M	no	United Kingdom (Great Britain)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00034046	-	-	-	M	no	Israel	-	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00034574	-	-	-	F	no	-	-	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00037582	-	-	-	F	no	Ireland	white	-	-	-	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00038534	-	-	-	F	no	Netherlands	white	-	-	-	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00038639	-	-	-	F	no	Australia	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00038764	-	-	-	M	-	Denmark	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00038765	-	-	-	-	-	(United States)	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00043759	-	-	-	F	-	Norway	white	-	-	yes	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00043760	-	-	-	F	-	France	white	-	-	-	-	HVDAS;MRD28	-	ADNP	ADNP	1	1	Céline Helsmoortel
00080956	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	HVDAS;MRD28	Helsmoortel-van der Aa syndrome (OMIM:615873)	ADNP	ADNP	1	1	Daniel Trujillano
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	-	ADNP	1	1	Minh Tuan Huynh
00451686	239229	-	-	M	?	Turkey	-	-	-	-	-	HVDAS;MRD28	Intellectual disability, Delayed speech and language development, Neurodevelopmental delay, Broad-based gait, Microcephaly	ADNP	ADNP	1	1	Andreas Laner

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