Disease #00168 (PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)), OMIM:612674)

Official abbreviation	PHARC
Name	polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)
OMIM ID	612674
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	32
Phenotype entries for this disease	26
Associated with 1 gene	ABHD12
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-07-29 22:25:56 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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.

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Operator	Column type	Example	Matches
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	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'
	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
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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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"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
00001632	24027063-FamPatIII1	PubMed: Chen 2013	3-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United States	Germany;British	-	-	-	-	PHARC	see paper; ...	ABHD12	ABHD12, GINS1	2	1	Dong-Hui Chen
00059898	20797687-Fam6Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	M	-	United Arab Emirates	Arab	-	-	-	-	PHARC	pec cavus from childhood, absent tendon reflexes; abnormal neurography and EMG ; 14y-deaf; mild ataxia; brain MR/CT normal; Indifferent plantar response; 20-ies Retinitis Pigmentosa; 15y-cataract;	ABHD12	ABHD12	1	3	Jacopo Celli
00059899	20797687-Fam6Pat2	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	M	-	United Arab Emirates	Arab	-	-	-	-	PHARC	4y-pes cavus, absent tendon reflexes; demyelinating polyneuropathy; 6y-sensorineural hearing loss; 2y-gait, limb, speech ataxia; 10y-wheelchair-bound; Cerebellar atrophy (age 3); Extensor plantar response; Retinitis Pigmentosa; cataract;	ABHD12	ABHD12	1	1	Jacopo Celli
00059900	20797687-Fam6Pat3	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	F	-	United Arab Emirates	Arab	-	-	-	-	PHARC	absent tendon reflexes; sensorineural hearing loss; speech and limb ataxia; Cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059901	19005174-FamPatIV1	PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009	5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/relatives	F	-	Norway	Norwegian	-	-	-	-	PHARC	38y-pes cavus, sensory loss, absent ankle reflexes; demyelinating polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; 38y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 28y-cataract	ABHD12	ABHD12	1	3	Jacopo Celli
00059902	19005174-FamPatIV2	PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009	brother PatIV2	M	-	Norway	Norwegian	-	-	-	-	PHARC	37y-pes cavus from childhood; demyelinating polyneuropathy; 30-ies sensorineural hearing loss; 37y-gait ataxia; brain MR/CT normal; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 37y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 37y-cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059903	19005174-FamPatIV4	PubMed: Fiskerstrand 2009, Journal: Fiskerstrand 2009	third cousin PatIV4	M	-	Norway	Norwegian	-	-	-	-	PHARC	38y-no pes cavus, sensory loss distally; demyelinating polyneuropathy; childhood sensorineural hearing loss; 43y-gait ataxia, upper limb intention tremor; Cerebellar atrophy; Extensor plantar response at lower limbs; spasticity; hyperreflexia; 46y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 25y-cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059904	20797687-Fam2Pat2	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 2.2	M	-	Norway	Norwegian	-	-	-	-	PHARC	53y-pes cavus, normal sensibility, reduced tendon reflexes; 20-ies sensorineural hearing loss; no ataxia; no pyramidal tract signs ; 25y-Retinitis Pigmentosa ; ERG flat; 25y-cataract	ABHD12	ABHD12	1	2	Jacopo Celli
00059905	20797687-Fam2Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 2.1	F	-	Norway	Norwegian	-	-	-	-	PHARC	51y-pes cavus, sensory loss, reduced tendon reflexes; demyelinating/axonal polyneuropathy; 20-ies sensorineural hearing loss; no ataxia; Cerebellar atrophy; Extensor plantar response at lower limbs; 35y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 26y-cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059906	20797687-Fam3Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	F	-	Norway	Norwegian	-	-	-	-	PHARC	pes cavus, normal sensibility, reduced tendon reflexes in lower limbs; demyelinating polyneuropathy; 10y-deaf; ataxia; Atrophy of vermis and medulla oblongata; Extensor plantar response at right side; spasticity; 36y-Retinitis Pigmentosa ; ERG rod-cone dystrophy; 32y-cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059907	20797687-Fam4Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	M	-	Norway	Norwegian	-	-	-	-	PHARC	pec cavus, hammertoes, reduced tendon reflexes in upper and lower limbs; demyelinating polyneuropathy; late in teens sensorineural hearing loss; no ataxia; Slight ventricular assymmetry.No cerebellar atrophy; Indifferent plantar response; no Retinitis Pigmentosa; ERG normal; 15y-cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059908	20797687-Fam5Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	M	-	Norway	Norwegian	-	-	-	-	PHARC	pes cavus, reduced sensibility, reduced tendon reflexes in upper limbs, absent in lower limbs ; demyelinating polyneuropathy; 13y-sensorineural hearing loss; no ataxia; brain MR/CT normal; no pyramidal tract signs ; no Retinitis Pigmentosa; ERG normal; 16y-cataract (slight)	ABHD12	ABHD12	1	1	Jacopo Celli
00059909	20797687-Fam8Pat2	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 8.2	M	-	Algeria	-	-	-	-	-	PHARC	absent tendon reflexes of lower limbs, normal sensibility; no sensorineural hearing loss; 4-5y-gait ataxia; Vermian atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract	ABHD12	ABHD12	1	2	Jacopo Celli
00059910	20797687-Fam8Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 8.1	F	-	Algeria	-	-	-	-	-	PHARC	absent tendon reflexes, moderate muscle weakness of lower limbs, normal sensibility; no sensorineural hearing loss; 3-4y-limb and gait ataxia, horizontal nystagmus, dysarthria, dysmetria upper and lower limbs; 15m-delayed walking; action and intention tremor ; Cerebellar atrophy; Extensor plantar response at lower limbs; no Retinitis Pigmentosa; no cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059911	20797687-Fam9Pat2	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 9.2	M	-	Algeria	-	-	-	-	-	PHARC	pes cavus, sensory loss, reduced tendon reflexes at upper limbs/ absent at lower limbs ; severe demyelinating polyneuropathy; deaf; 4–9y-gait and limb ataxia, horizontal nystagmus, moderate dysarthria, dysmetria at upper and lower limbs ; Vermian atrophy; Extensor plantar response at lower limbs; tongue fasciculations; Retinitis Pigmentosa; cataract;	ABHD12	ABHD12	1	2	Jacopo Celli
00059912	20797687-Fam9Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 9.1	F	-	Algeria	-	-	-	-	-	PHARC	pes cavus, sensory loss, absent tendon reflexes at lower limbs, scoliosis; demyelinating polyneuropathy; sensorineural hearing loss; 7–10y-gait and limb ataxia, cerebellar dysarthria, dysmetria at upper limbs with adiadocokinesia, head titubation ; Vermian atrophy; Extensor plantar response at lower limbs; macroglossia; amblyopia	ABHD12	ABHD12	1	1	Jacopo Celli
00059913	20797687-Fam10Pat2	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 10.2	F	-	Algeria	-	-	-	-	-	PHARC	12y-pes cavus, sensory loss, absent tendon reflexes at upper and lower limbs; no sensorineural hearing loss	ABHD12	ABHD12	1	2	Jacopo Celli
00059914	20797687-Fam10Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	Sibling 10.1	F	-	Algeria	-	-	-	-	-	PHARC	pes cavus, sensory loss, absent tendon reflexes; severe demyelinating polyneuropathy on nerve biopsy; 6y-sensorineural hearing loss; 6–12y-gait and limb ataxia; brain MR/CT normal; Indifferent plantar response; no Retinitis Pigmentosa; no cataract;	ABHD12	ABHD12	1	1	Jacopo Celli
00059915	20797687-Fam11Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	F	-	Algeria	-	-	-	-	-	PHARC	pes cavus, sensory loss and absent tendon reflexes at lower limbs; axonal polyneuropathy; sensorineural hearing loss; 16–20y-gait ataxia, dysarthria, dysmetria at upper limbs; Cerebellar atrophy; Extensor plantar response at lower limbs; decreased visual acuity and amblyopia; no cataract	ABHD12	ABHD12	1	1	Jacopo Celli
00059916	20797687-Fam7Pat1	PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010	-	F	-	United States	-	-	-	-	-	PHARC	34y-pes cavus, hammertoes, sensibility slightly reduced; abnormal neurography and EMG ; 17y-sensorineural hearing loss; 18y-dysarthria, gait ataxia, jerky eye movements, tremor in hands; Cerebellar atrophy Increased signal in periventricular white matter.; Flexor plantar response; spasticity; preserved reflexes; 20-ies Retinitis Pigmentosa; 22y-cataract;	ABHD12	ABHD12	1	1	Jacopo Celli
00151792	15B135	PubMed: Lerat 2017,Journal: Lerat 2017	-	M	yes	France	-	36y	-	-	no	PHARC	bilateral sensorineural deafness (HP 0008619), bilateral congenital cataract (HP 0000519)	ABHD12	ABHD12	1	1	Justine Lerat
00151822	24697911-FamRP-1292PatII4	PubMed: Nishiguchi 2014	2-generation family, 4 affecteds (2F, 2M), unaffected carrier parents, PatII4	F	no	Spain	-	-	-	-	-	PHARC	-	ABHD12	ABHD12	2	4	Johan den Dunnen
00151823	24697911-FamRP-1292PatII5	PubMed: Nishiguchi 2014	PatII5	M	no	Spain	-	-	-	-	-	PHARC	-	ABHD12	-	-	1	Johan den Dunnen
00151824	24697911-FamRP-1292PatII6	PubMed: Nishiguchi 2014	PatII6	F	no	Spain	-	-	-	-	-	PHARC	-	ABHD12	ABHD12	2	1	Johan den Dunnen
00151825	24697911-FamRP-1292PatII7	PubMed: Nishiguchi 2014	PatII7	M	no	Spain	-	-	-	-	-	PHARC	-	ABHD12	ABHD12	2	1	Johan den Dunnen
00151826	24697911-FamRP-1487PatII2	PubMed: Nishiguchi 2014	2-generation family, 1 affected, unaffected heterozygous father	F	yes	Spain	-	-	-	-	-	PHARC	-	ABHD12	ABHD12	3	1	Johan den Dunnen
00151827	22938382-Fam	PubMed: Eisenberger 2012	4-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Lebanon	-	-	-	-	-	PHARC	see paper; ...	ABHD12	ABHD12, ID1, RGS7	3	2	Johan den Dunnen
00151828	25743180-Fam1	PubMed: Yoshimura 2015	2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents	M	yes	Japan	-	-	-	-	-	PHARC	see paper; ...	ABHD12	ABHD12	1	3	Johan den Dunnen
00151829	25743180-Fam2	PubMed: Yoshimura 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	?	Japan	-	-	-	-	-	PHARC	see paper; ...	ABHD12	ABHD12	1	1	Johan den Dunnen
00151830	27890673-FamPatII1	PubMed: Tingaud-Sequeira 2017	3-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Sweden	-	-	-	-	-	PHARC	see paper; ...	ABHD12	ABHD12, OPA1	2	1	Johan den Dunnen
00174098	-	PubMed: Hasselblatt 2014	-	F	-	-	-	-	-	-	-	PHARC	Malignant rhabdoid tumor of the soft tissue (MRT) / ovary	SMARCA4	SMARCA4	1	1	Julia Lopez
00207577	-	-	3 generation family, 1 affected (F), unaffected carrier parents	F	yes	Israel	Arab (Bedouin)	18y?	-	Yes	-	PHARC	-	DNAJA3	DNAJA3	1	1	Abdussalam Azem

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Global Variome shared LOVD

CAPN1 (calpain 1, (mu/I) large subunit)