All individuals with variants in gene KIF1A

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.

81 entries on 1 page. Showing entries 1 - 81.

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
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00024269	-	PubMed: Hamdan 2011	-	F	?	Canada	-	>03y05m	-	-	-	ID	severe intellectual disability, no epilepsy, axial hypotonia/peripheral spasticity; MRI mild atrophy of the vermian region of cerebellum	1	1	Johan den Dunnen
00024275	-	PubMed: Hamdan 2011	285 controls	-	-	Canada	French	-	-	-	-	Healthy/Control	-	60	285	Johan den Dunnen
00024276	-	PubMed: Hamdan 2011	50 cases	-	-	Canada	French	-	-	-	-	ID	nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference	60	50	Johan den Dunnen
00036023	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036024	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036025	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036026	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036027	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036028	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036029	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036030	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00046985	-	PubMed: Ohba 2015	-	M	no	Japan	Japanese	-	-	-	-	NESCAVS	Cerebellar ataxia, cerebellar atrophy and lower limb spasticity	1	1	Hirotomo Saitsu
00046986	-	PubMed: Ohba 2015	-	F	no	Japan	Japanese	-	-	-	-	NESCAVS	cerebellar atrophy, lower limb spasticity, and visual disturbance	1	1	Hirotomo Saitsu
00046987	-	PubMed: Ohba 2015	-	F	no	Japan	Japanese	-	-	-	-	NESCAVS	Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance	1	1	Hirotomo Saitsu
00046988	-	PubMed: Ohba 2015	-	M	no	Japan	Japanese	-	-	-	-	NESCAVS	Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance	1	1	Hirotomo Saitsu
00046989	-	PubMed: Ohba 2015	-	F	no	Japan	Japanese	-	-	-	-	NESCAVS	Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance	1	1	Hirotomo Saitsu
00050420	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	seizures, spastic diplegia, gait ataxia, delayed speech and language development	1	1	Johan den Dunnen
00054877	Pat22	PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	M	-	-	-	-	-	-	-	SPG30	-	1	1	Erik-Jan Kamsteeg
00054878	Pat23	PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016	-	M	-	-	-	-	-	-	-	?	-	1	1	Erik-Jan Kamsteeg
00080977	-	PubMed: Trujillano 2017	unaffected non-carrier parents	-	-	-	-	-	-	-	-	NESCAVS	Mental retardation, autosomal dominant 9 (OMIM:614255)	1	1	Daniel Trujillano
00108459	-	PubMed: Riviere 2011	parents first degree cousins, brother of patients IV:3 and IV:4	M	yes	Afghanistan	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	3	Johan den Dunnen
00108460	-	PubMed: Riviere 2011	first degree cousins, brother of patients IV:2 and IV:3	M	yes	Afghanistan	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	1	Johan den Dunnen
00108461	-	PubMed: Riviere 2011	-	M	-	Turkey	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	2	Johan den Dunnen
00108462	-	PubMed: Riviere 2011	-	F	-	Turkey	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	1	Johan den Dunnen
00108463	-	PubMed: Riviere 2011	monozygous twin sister of patient II:2	F	-	Belgium	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	2	Johan den Dunnen
00108464	-	PubMed: Riviere 2011	-	F	-	Belgium	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	2	1	Johan den Dunnen
00108465	-	PubMed: Riviere 2011	parents first degree cousins, brother of patients IV:2 and IV:4	M	yes	Afghanistan	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	1	Johan den Dunnen
00108466	-	PubMed: Riviere 2011	monozygous twin sister of patient II:3	F	-	Belgium	-	-	-	-	-	HSN2C	hereditary sensory and autonomic neuropathy	1	1	Johan den Dunnen
00151421	-	-	-	M	-	(Germany)	-	-	-	-	-	?	HP:0001258 (Spastic paraplegia)	1	1	IMGAG
00163914	-	-	-	M	-	(Germany)	-	-	-	-	-	?	HP:0004322 (Short stature)	1	1	IMGAG
00208881	-	-	-	F	-	-	-	-	-	-	-	?	HP:0001257 (Spasticity)	1	1	IMGAG
00210003	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0001252 (Muscular hypotonia); HP:0000496 (Abnormality of eye movement); HP:0011804 (Abnormality of muscle physiology); HP:0012373 (Abnormal eye physiology); HP:0100491 (Abnormality of lower limb joint)	1	1	Andreas Laner
00210167	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0001260 (Dysarthria); HP:0001265 (Hyporeflexia); HP:0001279 (Syncope); HP:0000505 (Visual impairment); HP:0011025 (Abnormality of cardiovascular system physiology); HP:0012373 (Abnormal eye physiology); HP:0002167 (Neurological speech impairment); HP:0012638 (Abnormality of nervous system physiology); HP:0002315 (Headache); HP:0012443 (Abnormality of brain morphology); HP:0001250 (Seizures); HP:0001251 (Ataxia)	1	1	Andreas Laner
00225586	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	pure HSP	1	1	Maartje Pennings
00225587	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	-	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225589	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225590	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225591	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	Netherlands	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225592	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225593	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225594	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	?	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225610	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	F	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225611	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225612	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225613	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225614	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	F	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225615	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	-	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225616	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	F	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225617	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225618	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00225619	-	PubMed: Pennings 2019, Journal: Pennings 2019	-	M	no	-	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00245206	-	-	-	M	?	-	-	01y	-	-	-	SPG	-	1	1	Maartje Pennings
00245844	-	-	-	F	no	Netherlands	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00246690	-	-	-	M	no	Netherlands	-	-	-	-	-	-	-	1	1	Maartje Pennings
00246691	-	-	-	F	no	Netherlands	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00246692	-	-	-	M	no	Netherlands	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00246693	-	-	-	F	no	Netherlands	-	-	-	-	-	SPG	-	1	1	Maartje Pennings
00276028	-	-	-	M	-	-	-	-	-	-	-	?	Spastic paraplegia (HP:0001258)	1	1	IMGAG
00292661	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	130	Mohammed Faruq
00292662	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292663	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	150	Mohammed Faruq
00295599	-	-	-	F	-	-	-	-	-	-	-	?	Spastic paraparesis (HP:0002313)	1	1	Andreas Laner
00304806	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00304807	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00306152	-	-	-	M	no	Russian Federation	-	-	-	-	-	SPG30	Phenotype at the examination: body mass 40 kg (>97 centile), height 130 cm (>95 centile), body mass index 100 centile, head circumference 54 cm, facial features prominent incisors, poor dermatoglyphics; tendon reflexes are brisk (in legs more than in arms), gait was slow, spastic with elements paretic and leg recurvation; mental retardation (MR), quiet behavior, stereotypies.	1	1	Varvara Kadnikova
00306153	-	-	-	M	-	Russian Federation	-	-	-	-	-	SPG30	-	1	1	Varvara Kadnikova
00306154	-	-	-	M	-	Russian Federation	-	-	-	-	-	SPG30	-	1	1	Varvara Kadnikova
00306155	-	-	-	F	-	Russian Federation	-	-	-	-	-	SPG30	-	1	1	Varvara Kadnikova
00374356	S-3449	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Regression since early infancy, ID, impaired vision, myoclonic epilepsy, spastic quadriparesis and cerebellar atrophy	1	1	Johan den Dunnen
00374775	S-4478	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374776	S-4060	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00374885	S-3922	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00377090	171011	-	-	F	-	-	-	-	-	-	-	NESCAVS	Congenital blindness, Optic atrophy, Global developmental delay, Umbilical hernia, Microcephaly, Muscular hypotonia	1	1	Andreas Laner
00398615	184	PubMed: Ferese 2021	2-generation family, 2 affected brothers, 1 unaffected sister	M	-	Italy	-	>67y	-	-	-	HSN2C	Peripheral neuropathy (HP:0009830), Distal muscle weakness (HP:0002460), Hearing impairment (HP:0000365), Decreased nerve conduction velocity (HP:0000762), Upper motor neuron dysfunction (HP:0002493)	1	1	Yvet den Hartog
00401569	173P	-	-	M	no	Spain	-	-	-	-	-	ID	-	1	1	Alejandro Brea-Fernández
00434867	CMC07	PubMed: Gostain 2020	-	F	-	Canada	-	-	-	-	-	?	global developmental delay, hypotonia, structural central nervous system anomalies	1	1	Johan den Dunnen
00448494	286589	-	-	F	no	? (unknown)	-	-	-	-	-	NESCAVS	Seizure, Choroid plexus cyst, EEG abnormality, Neonatal epileptic spasm, Myoclonic spasms	1	1	Andreas Laner
00453741	BAV961	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	-	1	1	Johan den Dunnen
00453768	BAV546	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	coarctation, ventricular septal defect	1	1	Johan den Dunnen
00453808	BAV249	PubMed: Mansoorshahi 2024	analysis 215 early-onset complications bicuspid aortic valve-affected families.	-	-	United States	-	-	-	-	-	CHD	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

KIF1A (kinesin family member 1A)