Disease #02296 (OBLFC1 (facial clefting, oblique, type 1 (OBLFC1, oculomaxillofacial dysplasia)), OMIM:600251)

Official abbreviation	OBLFC1
Name	facial clefting, oblique, type 1 (OBLFC1, oculomaxillofacial dysplasia)
OMIM ID	600251
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	3
Phenotype entries for this disease	3
Associated with 1 gene	SPECC1L
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-04-06 19:16:14 +02:00 (CEST)

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
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? (unknown)
- (not applicable)
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Cunha
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Tunisia
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Turkey
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Tuvalu
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Uganda
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Ukraine
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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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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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
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>=	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
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Example	Matches
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3 entries on 1 page. Showing entries 1 - 3.

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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
00029714	-	PubMed: Saadi 2011, Journal: Saadi 2011	2-generation family, affected male, unaffected parents	M	no	Brazil	-	-	-	-	-	OBLFC1	severe right unilateral Tessier IV clefting, mild left Tessier VII clefting, normal eyes, no other birth defects	SPECC1L	SPECC1L	1	1	Johan den Dunnen
00029715	-	PubMed: Saadi 2011, Journal: Saadi 2011	2-generation family, 1 affected	M	-	Brazil	-	-	-	-	-	OBLFC1	Tessier IV clefting	SPECC1L	SPECC1L	1	1	Johan den Dunnen
00029718	-	PubMed: Saadi 2011, Journal: Saadi 2011	-	F	-	United States	white, European	-	-	-	-	OBLFC1	bilateral oromedial-canthal (Tessier IV) clefts, microphthalmia, cleft palate, unilateral talipes calcaneovarus foot deformity; head CT-scan showed normal brain parenchyma, severe bilateral ocular hypoplasia	-	SPECC1L	4	1	Johan den Dunnen

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