Disease #00768 (MICPCH (mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH)), OMIM:300749)

Official abbreviation	MICPCH
Name	mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH)
OMIM ID	300749
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	32
Phenotype entries for this disease	32
Associated with 1 gene	CASK
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-01-15 09:18:41 +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.

How to query this table

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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'

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32 entries on 1 page. Showing entries 1 - 32.

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
00057257	-	PubMed: Rump 2016	-	F	-	-	-	-	-	-	-	MICPCH	Microcephaly HP:0000252	-	CASK	1	1	Birgit Sikkema-Raddatz
00111393	S_008	PubMed: Popp 2017, Journal: Popp 2017	-	F	no	-	-	-	-	-	-	MICPCH	Microcephaly, MRI: cerebellopontine hypoplasia, moderate to severe ID, muscular hypertonia, hearing loss	CASK	CASK	1	1	Bernt Popp
00163761	UZL6032	-	-	F	-	-	European	-	-	-	-	MICPCH	-	CASK	CASK	1	1	Francesca Cristofoli
00163763	UZL4581	-	-	F	-	-	European	-	-	-	-	MICPCH	-	-	CASK	1	1	Francesca Cristofoli
00275940	-	-	-	M	-	-	-	12y	-	-	-	MICPCH, MRXSBL;MRX60	pontocerebellar hypoplasia	-	CASK	1	1	Enza Maria Valente
00275942	CCM031	-	-	F	-	-	-	01y06m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275943	CCM041	-	-	F	-	Romania	-	-	-	-	-	MICPCH	-	CASK	CASK	1	1	Enza Maria Valente
00275944	CCM043	-	-	F	-	Italy	-	05y07m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275945	CCM086	-	-	F	-	-	-	15y06m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275946	CCM115	-	-	F	-	Italy	-	26y04m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275947	CCM157	-	-	F	-	Italy	-	05y	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275948	CCM195	-	-	M	-	Italy	-	01y09m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275949	CCM239	-	-	F	-	-	-	03y06m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275950	CCM395	-	-	M	-	Italy	-	04y02m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275951	CCM249	-	-	F	-	Croatia (Hrvatska)	-	00y04m	-	-	-	MICPCH	-	CASK	CASK	1	1	Enza Maria Valente
00275952	CCM333	-	-	F	-	Italy	-	04y02m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275953	CCM411	-	-	F	-	Morocco	-	03y04m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275954	CCM529	-	-	F	-	Italy	-	03y09m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275955	CCM530	-	-	F	-	Italy	-	03y06m	-	-	-	MICPCH	-	CASK	CASK	1	1	Enza Maria Valente
00275956	CCM433	-	-	F	-	Italy	-	00y08m	-	-	-	MICPCH	-	CASK	CASK	1	1	Enza Maria Valente
00275957	CCM457	-	-	F	-	Italy	-	05y04m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275958	CCM509	-	-	F	-	Israel	-	07y	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275959	CCM510	-	-	M	-	Albania	-	03y04m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275960	CCM515	-	-	F	-	Italy	-	05y02m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275961	CCM525	-	-	F	-	Serbia	-	01y09m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275962	CCM532	-	-	F	-	-	-	-	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275963	CCM531	-	-	F	-	Italy	-	07y05m	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275964	CCM533	-	-	F	-	Italy	-	04y	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00275965	CCM568	-	-	F	-	Italy	-	06y	-	-	-	MICPCH	-	-	CASK	1	1	Enza Maria Valente
00411450	-	Journal: Rodríguez-García 2022	-	M	no	Spain	white	>10y	-	-	-	MICPCH	HP:0001263 HP:0003502 HP:0000252 HP:0001272 HP:0006834 HP:0000496 HP:0002521 HP:0002540 HP:0001344 HP:0001252 HP:0001631 HP:0000648	-	CASK, EEF2	2	1	Francisco Martínez-Azorín
00416850	19	PubMed: Rump 2016	-	F	-	-	-	-	-	-	-	MICPCH	brain magnetic resonance imaging: atrophy, mild enlarged ventricles on ct-scan; additional clinical featuresumbilical hernia, hip dysplasia, scoliosis, spasticity, feeding problems, severe intellectual disability, seizures, no speech, prominent upper incisors	CASK	CASK	1	1	LOVD
00455464	307639	-	-	F	-	Germany	-	-	-	-	-	MICPCH	Microcephaly, Delayed cranial suture closure, Neurodevelopmental delay	CASK	CASK	1	1	Andreas Laner

Legend

How to query

Global Variome shared LOVD

AP4M1 (adaptor-related protein complex 4, mu 1 subunit)