All individuals with variants in gene TTLL5

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.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

53 entries on 1 page. Showing entries 1 - 53.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00016582	-	PubMed: Sergouniotis 2014	4-generation family, 1 affected, unaffected carrier parents	M	yes	-	European	-	-	-	-	RD	central and peripheral cone dysfunction with preservation of rod photoreceptor function	1	1	Marianne Vos (LOVD-team)
00016583	-	PubMed: Sergouniotis 2014	5-generation family, 1 affected, unaffected carrier parents	M	yes	-	European	-	-	-	-	RD	emmetropia, undetectable PERGs, borderline DA ERGs, subnormal LA ERGs	2	1	Marianne Vos (LOVD-team)
00016584	-	PubMed: Sergouniotis 2014	4-generation family, 2 affected brothers (CD3/CD4), unaffected carrier parents and sibling	M	yes	-	European	-	-	-	-	RD	more severe phenotype with poor vision from the first years of life, severe generalized cone-system dysfunction, and additional significant involvement of rod photoreceptors.	1	1	Marianne Vos (LOVD-team)
00016585	-	PubMed: Sergouniotis 2014	3-generation family, 1 affected, unaffected carrier parents	M	?	-	European	-	-	-	-	RD	central and peripheral cone dysfunction with preservation of rod photoreceptor function	1	1	Marianne Vos (LOVD-team)
00296866	-	-	-	F	-	-	-	-	-	-	-	?	Retinal dystrophy (HP:0000556)	1	1	Andreas Laner
00309441	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00317979	Fam1Pat1	PubMed: Hamada 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Japan	-	-	-	-	-	WEST	see paper; ...	2	1	Johan den Dunnen
00328418	691024	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00335172	4787	PubMed: Haer-Wigman 2017	patient	-	yes	Netherlands	-	-	-	-	-	?	5y-diagnosis visual impairment	2	1	LOVD
00358946	Case71134	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362239	?	Fadaie 2021, submitted	-	-	no	Netherlands	-	-	-	-	-	retinal disease	-	1	1	Zeinab Fadaie
00379430	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383788	RD18088615_A	PubMed: Gao 2019	-	?	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386255	RPN-536	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386708	OGI2834_004419	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00388936	220	PubMed: Weisschuh 2020	Filing key number: 77, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389434	718	PubMed: Weisschuh 2020	Filing key number: 269, cone-rod dystrophy, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389669	953	PubMed: Weisschuh 2020	Filing key number: 423, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389814	1098	PubMed: Weisschuh 2020	Filing key number: 736, cone-rod dystrophy, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00391366	34	{PMID:Méjécase 2020:3278337	-	?	-	United Arab Emirates	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392639	120	PubMed: Ma 2021	-	?	-	Korea	-	-	-	-	-	retinal disease	-	1	1	LOVD
00394364	CRD1	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	Photophobia about 20 y then progressively worsening of vision, maculopathy, conduction in optic nerves impaired	3	1	LOVD
00395786	F286	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	2	1	LOVD
00395787	F252	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	2	1	LOVD
00413813	-	PubMed: Dias-2017	-	M	yes	(France)	-	-	-	-	-	retinal disease	myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses	1	1	LOVD
00413814	P1	PubMed: Bedoni-2016	-	M	-	-	-	-	-	-	-	retinal disease	VA:0.05; correction: -3.6; cone response absent; rod response reduced; macular atrophy; azoospermia	1	1	LOVD
00413815	P2	PubMed: Bedoni-2016	-	M	-	-	-	-	-	-	-	retinal disease	VA:0.05; correction: -10.00; cone response residual; rod response residual; macular atrophy	1	1	LOVD
00413816	P3	PubMed: Bedoni-2016	-	F	-	-	-	-	-	-	-	retinal disease	VA:0.16; correction: -3; cone response reduced; rod response normal	1	1	LOVD
00413817	P4	PubMed: Bedoni-2016	-	M	-	-	-	-	-	-	-	retinal disease	VA:0.03; correction: -5; cone response absent; rod response normal; macular atrophy	1	1	LOVD
00413818	P5	PubMed: Bedoni-2016	-	M	-	-	-	-	-	-	-	retinal disease	VA:0.33; correction: -8; cone response absent; rod response normal; pigmentary changes	1	1	LOVD
00413819	P6	PubMed: Bedoni-2016	-	M	yes	-	Pakistani	-	-	-	-	retinal disease	correction: -8.00; macular atrophy; phthisical right eye	1	1	LOVD
00413820	P7	PubMed: Bedoni-2016	-	M	yes	-	Pakistani	-	-	-	-	retinal disease	correction: -5.00; posterior subcapsular cataract	1	1	LOVD
00413821	P8	PubMed: Bedoni-2016	-	M	yes	-	Pakistani	-	-	-	-	retinal disease	correction: -22.00; fairly normal retina	1	1	LOVD
00420549	F252	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	2	1	LOVD
00420574	F286	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	2	1	LOVD
00426932	37_43	PubMed: Zhu 2022	family 37, individual 43	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00445389	DNA18-16222	PubMed: de Bruijn 2023	-	-	-	-	-	-	-	-	-	RD	-	2	1	Johan den Dunnen
00447445	USHII-369	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447540	CRD-823	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00451014	066656	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00451015	070685	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451016	070689	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00451017	071376	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00451018	071494	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00451019	071743	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451020	071799	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451021	073205	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00451022	073351	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451023	073387	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	M	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451024	073545	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451025	073896	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	2	1	Rebekkah Hitti-Malin
00459001	MEP_965	PubMed: Wen 2023	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	Asia	-	-	-	-	RD	see paper; ..., early-onset severe retinal dystrophy, optic nerve edema, high myopia, ptosis	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

TTLL5 (tubulin tyrosine ligase-like family, member 5)