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
(Afghanistan)
Albania
(Albania)
Algeria
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Andorra
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Bulgaria
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Canada
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Central Europe
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China
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Croatia (Hrvatska)
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Cuba
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Kenya
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Romania
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Samoa
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San Marino
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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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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
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Sudan, South
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Suriname
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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
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
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Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
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Uganda
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Ukraine
(Ukraine)
United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Uzbekistan
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Vanuatu
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Venezuela
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Viet Nam
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Virgin Islands (British)
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Virgin Islands (US)
(Virgin Islands (US))
Wales
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Wallis and Futuna Islands
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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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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

Legend

How to query

Global Variome shared LOVD

TRIM17 (tripartite motif containing 17)