Disease #04191 (CCDD (dysinnervation disorder, cranial, congenital (CCDD)))

Official abbreviation	CCDD
Name	dysinnervation disorder, cranial, congenital (CCDD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	13
Phenotype entries for this disease	1
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-02-14 17:51:00 +01:00 (CET)
Date last edited	2015-12-08 23:59:30 +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
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Cunha
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Cunha)
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Sudan
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Tanzania
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Thailand
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Tunisia
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Turkey
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Ukraine
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Wales
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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
(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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13 entries on 1 page. Showing entries 1 - 13.

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
00032332	-	PubMed: Shinwari 2015, Journal: Shinwari 2015	2-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents	-	yes	Saudi Arabia	-	-	-	-	-	CCDD	see paper; congenital cranial dysinnervation disorder, congenital ptosis or Duane retraction syndrome (DRS)	COL25A1	COL25A1	1	1	Johan den Dunnen
00327516	F1:II-3	-	-	M	?	United Kingdom (Great Britain)	-	-	-	-	-	CCDD	-	-	TUBB3	1	1	Mervyn Thomas
00327518	F1:II-2	-	-	M	?	-	-	-	-	-	-	CCDD	-	TUBB3	TUBB3	1	1	Mervyn Thomas
00327519	F:I-1	-	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	CCDD	-	TUBB3	TUBB3	1	1	Mervyn Thomas
00327520	F3:I-2	-	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	CCDD	-	-	KIF21A	1	1	Mervyn Thomas
00327521	F3:II-2	-	-	F	-	-	-	-	-	-	-	CCDD	-	-	KIF21A	1	1	Mervyn Thomas
00327522	F3:III-1	-	-	F	-	-	-	-	-	-	-	CCDD	-	-	KIF21A	1	1	Mervyn Thomas
00327523	F4:II-1	-	-	-	-	-	-	-	-	-	-	CCDD	-	-	TUBB3	1	1	Mervyn Thomas
00327524	F4:II-2	-	-	-	-	-	-	-	-	-	-	CCDD	-	TUBB3	TUBB3	1	1	Mervyn Thomas
00327525	F4:I-2	-	-	-	-	-	-	-	-	-	-	CCDD	-	-	TUBB3	1	1	Mervyn Thomas
00327526	F4:II-3	-	-	-	-	-	-	-	-	-	-	CCDD	-	-	TUBB3	1	1	Mervyn Thomas
00327527	S1:II-1	-	-	-	-	-	-	-	-	-	-	CCDD	-	-	KIF21A	1	1	Mervyn Thomas
00327528	S2:II-1	-	-	-	-	-	-	-	-	-	-	CCDD	-	-	TUBB3	1	1	Mervyn Thomas

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Global Variome shared LOVD