Disease #00777 (PVNH1 (heterotopia, periventricular, type 1 (PVNH-1)), OMIM:300049)

Official abbreviation	PVNH1
Name	heterotopia, periventricular, type 1 (PVNH-1)
OMIM ID	300049
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	54
Phenotype entries for this disease	54
Associated with 1 gene	FLNA
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:

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
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Andorra
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Angola
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Anguilla
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Australia
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Austria
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Belgium
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
(Cambodia)
Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
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Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
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Comoros
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Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Cyprus
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Ethiopia
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Fiji
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France
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Guam
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Guiana, French
(Guiana, French)
Guinea
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Italy
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Japan
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
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Kuwait
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Kyrgyzstan (Kyrgyz Republic)
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Laos
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Latvia
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Lesotho
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Malaysia
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Paraguay
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Peru
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Poland
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Polynesia, French
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Qatar
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Reunion
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Romania
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Russia
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Russian Federation
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Rwanda
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S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
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Saint Lucia
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Saint Vincent and The Grenadines
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Samoa
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San Marino
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Sao Tome and Principe
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Saudi Arabia
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Scotland
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Senegal
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Serbia
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Seychelles
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Sierra Leone
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Singapore
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Slovakia (Slovak Republic)
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Slovenia
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Solomon Islands
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South Africa
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Southern Territories, French
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Soviet Union (former)
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Spain
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Sri Lanka
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St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
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Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
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Sweden
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Switzerland
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Syria
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Taiwan
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Tajikistan
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
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Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
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Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
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Vanuatu
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Vatican City State (Holy See)
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Venezuela
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Viet Nam
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Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
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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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54 entries on 1 page. Showing entries 1 - 54.

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
00028666	-	-	2nd daugther healthy unrelated parents	F	-	Germany	-	-	-	-	PVNH1	periventricular heterotopia, type 1/frontometaphyseal dysplasia; delayed closure anterior fontanel, craniofacial anomalies, marked genua valga necessitating surgical corrections; 5y-MRI cranial bilateral PVNHs; no seizures, normal motor/mental development; 8y-radiological FMD	FLNA	FLNA	3	1	Yu Sun
00028669	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	son of 09883725.Fam1-IV.3	M	-	(United States)	-	-	-	-	PVNH1	death 3d, severe systemic bleeding and organ failure, severe arrest myeloid/erythroid differentiation in bone marrow, lymphoid depletion in thymus	FLNA	FLNA	1	1	Yu Sun
00028670	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	mother of 09883725.Fam1-IV.2 and IV.3, unaffected parents	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028671	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-III.10	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028672	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-III.10	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028673	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-IV.2	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028674	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-IV.3	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028675	-	PubMed: Huttenlocher 1994, PubMed: Fox 1998	daugther of 09883725.Fam1-V.2	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028676	-	PubMed: Fox 1998	mother of 09883725.Fam2-III.1, unaffected parents	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028677	-	PubMed: Fox 1998	daugther of 09883725.Fam2-II.2	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028678	-	PubMed: Fox 1998	unaffected parents	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028679	-	PubMed: Fox 1998	-	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028680	-	PubMed: Fox 1998	-	F	-	(United States)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028681	-	-	-	M	-	(United States)	-	-	-	-	PVNH1	severe, non-lethal; shortened digits, syndactyly, clinodactyly; immune compromise, recurrent infections; small corpus callosum, hypoplastic cerebellum	FLNA	FLNA	1	1	Yu Sun
00028684	-	PubMed: Masruha 2006	son of I-2	M	-	-	-	-	-	-	PVNH1	Developmental Regression, West Syndrome	FLNA	FLNA	1	1	Yu Sun
00028685	-	PubMed: Masruha 2006	son of I-2, twin of II-4	M	-	-	-	-	-	-	PVNH1	Developmental Regression, West Syndrome	FLNA	FLNA	1	1	Yu Sun
00028686	-	PubMed: Masruha 2006	son of I-2, twin of II-3	M	-	-	-	-	-	-	PVNH1	Developmental Regression, West Syndrome	FLNA	FLNA	1	1	Yu Sun
00028690	-	PubMed: Moro 2002	mother of 1-III:5, unaffected parents; 3 sons died within 1st week, a brother died as a young adult	F	-	Italy	-	-	-	-	PVNH1	epilepsy	FLNA	FLNA	1	1	Yu Sun
00028691	-	PubMed: Moro 2002	mother of 1-IV:6 and 1-IV:9, daughter of 1-II:2; 2 sons died at 5mth/day 5, two spontaneous abortions at 5th month, one is male	F	-	Italy	-	-	-	-	PVNH1	BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset 20y,rare, remission; EEG mild R sided slowing, verbal IQ74/performance IQ97/full-scale IQ81	FLNA	FLNA	1	1	Yu Sun
00028692	-	PubMed: Moro 2002	elder sister of 1-IV:9, daughter of 1-III:5	F	-	Italy	-	-	-	-	PVNH1	BPNH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial seizure onset at 20yrs,rare,remission; EEG shows mild R sided slowing, verbal IQ/performance IQ/full-scale IQ=74/97/81	FLNA	FLNA	1	1	Yu Sun
00028693	-	PubMed: Moro 2002	proband of family 1, daughter of 1-III:5, younger sister of 1-IV:6	F	-	Italy	-	-	-	-	PVNH1	NH, scattered nodules along lateral ventricle wall, slightly vertically oriented posterior hippocampal region, mega cisterna magna, complex partial/secondarily generalized seizure onset at 14yrs,once in 4-5 mth,no remission; EEG shows L frontotemporal slow wave, use antiepileptic drugs:carbamazepine,topiramate;verbal IQ/performance IQ/full-scale IQ=70/81/74	FLNA	FLNA	1	1	Yu Sun
00028722	-	PubMed: Sheen 2001	Has 5 sons, no spontaneous miscarriages history. 2 sons might be affected.	F	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028723	-	PubMed: Sheen 2001	-	F	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028724	-	PubMed: Moro 2002	mother of 2-II:5	F	-	Italy	-	-	-	-	PVNH1	BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 9yrs,rare,no remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=66/85/74	FLNA	FLNA	1	1	Yu Sun
00028725	-	PubMed: Moro 2002	mother of 2-III:1, daughter of 2-I:3	F	-	Italy	-	-	-	-	PVNH1	BPNH, mega cisterna magna, complex partial/secondarily generalized seizure onset at 30yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=71/72/70	FLNA	FLNA	1	1	Yu Sun
00028726	-	PubMed: Moro 2002	proband of the family, daughter of 2-II:5	F	-	Italy	-	-	-	-	PVNH1	BPNH, mega cisterna magna, simple partial/partial secondarily generalized seizure onset at 14yrs,rare,remission;use antiepileptic drugs:phenobarbital;verbal IQ/performance IQ/full-scale IQ=100/69/83	FLNA	FLNA	1	1	Yu Sun
00028754	-	PubMed: Gerard-Blanluet 2006	mother of 16596669.III6,III7,III8	F	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028755	-	PubMed: Gerard-Blanluet 2006	twin of III7,son of II6	M	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028756	-	PubMed: Gerard-Blanluet 2006	twin of III6,son of II6	M	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028757	-	PubMed: Gerard-Blanluet 2006	daughter of 16596669.II6	F	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028835	-	PubMed: Simone 2008	daughter of 18427995.mother	F	-	(Brazil)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028836	-	PubMed: Simone 2008	Mother of 18427995.daughter	F	-	(Brazil)	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028837	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028838	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028839	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028840	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028841	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028842	-	PubMed: Sole 2009	mother of 19917821.22	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028843	-	PubMed: Sole 2009	daughter of 19917821.21	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028844	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028845	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028846	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028847	-	PubMed: Sole 2009	-	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028848	-	PubMed: Sole 2009	mother of 19917821.6	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028849	-	PubMed: Sole 2009	daughter of 19917821.32	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028850	-	PubMed: Sole 2009	mother of 19917821.9	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028851	-	PubMed: Sole 2009	daughter of 19917821.8	F	-	France	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028854	-	PubMed: Sheen 2001	-	M	-	-	-	-	-	-	PVNH1	indistinguishable from females have FLN1 mutation. Symmetrical nodules, enlarged cisterna magna behind cerebellum, mild to moderate seizure, no MR	FLNA	FLNA	1	1	Yu Sun
00028855	-	PubMed: Sheen 2001	-	M	-	-	-	-	-	-	PVNH1	milder in MRI than females with FLN1 mutations, few heterotopic nodules only in right hemisphere. No MR. Not intractable seizure	FLNA	FLNA	1	1	Yu Sun
00028864	-	PubMed: Hehr 2006	-	M	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028867	-	PubMed: Sheen 2001	-	?	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00028868	-	PubMed: Sheen 2001	-	?	-	-	-	-	-	-	PVNH1	-	FLNA	FLNA	1	1	Yu Sun
00046330	-	PubMed: Oegema 2013, Journal: Oegema 2013	3-generation family, 4 affected heterozygous carrier females (and 3 affected males)	F	no	Netherlands	-	-	-	-	PVNH1	see paper; classical X-linked periventricular nodular heterotopia , ...	FLNA	FLNA	1	4	Johan den Dunnen
00324385	171244	-	-	F	-	Germany	-	-	-	-	PVNH1	(+) Abnormality of the nervous system,(+) Aortic regurgitation,(+) EEG abnormality,(+) Abnormality of the cerebral cortex,(+) Cortical tubers,(+) Cerebral hamartoma,(+) Hamartoma. Positive famliy history regarding sympotoms mentioned.	FLNA	FLNA	1	1	Andreas Laner

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Global Variome shared LOVD