Disease #00858 (Chudley-McCullough syndrome, OMIM:604213)

Official abbreviation	-
Name	Chudley-McCullough syndrome
OMIM ID	604213
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	21
Phenotype entries for this disease	20
Associated with 1 gene	GPSM2
Associated tissues	-
Disease features	-
Remarks	-

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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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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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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Example	Matches
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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21 entries on 1 page. Showing entries 1 - 21.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00081030	-	Trujillano et al., submitted	unaffected parents	-	-	-	-	-	-	-	Chudley-McCullough syndrome	Chudley-McCullough syndrome (OMIM:604213)	GPSM2	GPSM2	1	1	Daniel Trujillano
00227840	-	-	-	F	?	United States	Mennonite	>17y	-	-	Chudley-McCullough syndrome	severe/profound hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; hydrocephalus, foramen of Monro fenestration; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown	GPSM2	GPSM2	2	1	-
00227841	-	-	-	M	?	United States	Mennonite	>21y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; no motor delay; mild, resolved communicative delay; no cognitive impairment; downslanting palpebral fissures, rotated ears, nasal voice; shunted hydrocephalus; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown	GPSM2	GPSM2	2	1	-
00227842	-	-	-	F	?	United States	European	>2y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small left cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227843	-	-	-	F	?	Netherlands	European	>10y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; no motor delay; no communicative delay; mild, resolved cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst	GPSM2	GPSM2	2	1	-
00227844	-	-	-	F	?	Netherlands	European	>4y	-	-	Chudley-McCullough syndrome	severe/profound hearing loss; cochlear implant; mild motor delay, mildly increased tone ; mild, resolving communicative delay; mild, resolved cognitive impairment; controlled seizures, breath holding; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; small pineal cyst	GPSM2	GPSM2	2	1	-
00227845	-	-	-	F	?	United States	Mexican American	>7y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia large; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small bilateral cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227846	-	-	-	M	?	United States	Mexican American	>6y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria extensive; cerebellar dysplasia; moderate interhemispheric and small right cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227847	-	-	-	M	?	United States	Mennonite	>1y	-	-	Chudley-McCullough syndrome	severe hearing loss; cochlear implant; mild motor delay; mild communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia unable to score due to mass effect; large bilateral cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227848	-	-	-	F	?	United States	Mennonite	>25y	-	-	Chudley-McCullough syndrome	severe hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; ventriculomegaly (R>L); corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria presentb; cerebellar dysplasia;	GPSM2	GPSM2	2	1	-
00227849	-	-	-	M	?	United States	Mennonite	>12y	-	-	Chudley-McCullough syndrome	severe hearing loss; no hearing aid; no motor delay; communicative delay; mild cognitive impairment; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria extensive; cerebellar dysplasia; no arachnoid cysts, right ventricle herniation into midline	GPSM2	GPSM2	2	1	-
00227850	-	-	-	F	?	United States	Mennonite	>15y	-	-	Chudley-McCullough syndrome	severe hearing loss; no hearing aid; yes motor delay; communicative delay; mild/moderate cognitive impairment; seizures; shunted hydrocephalus; corpus callosum posterior agenesis; heterotopia small; frontal polymicrogyria moderate; cerebellar dysplasia; left cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227851	-	-	-	F	?	United States	Mennonite	>4y	-	-	Chudley-McCullough syndrome	profound hearing loss; cochlear implant; mild motor delay; mild communicative delay; mild cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia extensive; frontal polymicrogyria extensive; no cerebellar dysplasia; right cerebellopontine angle cysts	GPSM2	GPSM2	2	1	-
00227852	-	-	-	F	no	Netherlands	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	2	1	Gijs Santen
00227853	-	-	-	F	no	Netherlands	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Gijs Santen
00227854	-	-	-	F	no	Netherlands	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Gijs Santen
00281931	-	PubMed: Doherty 2012, PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281934	-	PubMed: Doherty 2012	-	-	-	-	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281936	-	-	-	-	-	-	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281939	-	PubMed: Doherty 2012, PubMed: Schrauwen 2013	-	-	-	-	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy
00281940	-	PubMed: Diaz-Horta 2012	-	-	-	-	-	-	-	-	Chudley-McCullough syndrome	-	GPSM2	GPSM2	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD