All individuals with variants in gene FIG4

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.

55 entries on 1 page. Showing entries 1 - 55.

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
00035827	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035828	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035829	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035830	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035831	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035832	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035833	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035834	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035835	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00081290	-	-	-	-	-	Germany	-	-	-	-	-	CMT4J	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00100259	Rf1875-2.2	PubMed: van den Boogaard 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	-	-	-	-	-	IVIG	ICF2	see paper; ...	1	1	Marlinde L. van den Boogaard
00147119	-	-	-	M	-	(Germany)	-	-	-	-	-	?	HP:0003198 (Myopathy), HP:0007327 (Mixed demyelinating and axonal polyneuropathy)	2	1	IMGAG
00151837	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151838	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151839	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151840	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00151841	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00151842	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151843	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00151844	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151845	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00151846	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00151847	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151848	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151849	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00151850	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151851	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151852	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151853	-	PubMed: Chow 2009	-	-	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00151854	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151855	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151856	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151857	-	PubMed: Chow 2007	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151858	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00151859	-	PubMed: Nicholson 2011	-	-	-	-	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00177014	72555	PubMed: Abela 2016	3-generation family, affected twin brothers, unaffected heterozygous carrier mother	M	no	Italy	-	-	-	-	-	EE	HP:0001252 HP:0002509 HP:0001266 HP:0000219 HP:0002705 HP:000319 HP:0000286 HP:0000494 HP:0000508 HP:0011359 HP:0100798	1	2	Anaïs Begemann
00219053	28902413-Pat63	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT4J; no family history	2	1	Johan den Dunnen
00219054	28902413-Pat64	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT4J	2	1	Johan den Dunnen
00293954	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00296549	-	-	-	M	-	-	-	-	-	-	-	?	Muscular hypotonia (HP:0001252); Distal muscle weakness (HP:0002460)	1	1	Andreas Laner
00299988	Pat-FIG4-a	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00299989	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300046	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300047	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300130	Pat-FIG4-b	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT	-	1	1	Johan den Dunnen
00300139	Pat-FIG4-c	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300149	Pat-FIG4-d	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00324468	173204	-	-	F	?	Germany	-	-	-	-	-	ALS11	(+) Abnormality of the nervous system,(+) Abnormality of the peripheral nervous system	1	1	Andreas Laner
00385430	187559	-	prenatal trio-exom analysis	-	no	Germany	-	-	-	-	-	YVS	Fetal cystic hygroma, Increased nuchal translucency, Abnormality of the neck	2	1	Andreas Laner
00436292	-	Lauerova, submitted 2024	-	M	-	Czech Republic	-	-	-	-	-	CMT4J	Gait disturbance HP:0001288 Achilles tendon contracture HP:0001771 Pes cavus HP:0001761 Lower limb amyotrophy HP:0007210 Lower limb muscle weakness HP:0007340 Areflexia HP:0001284 Impaired tactile sensation HP:0010830 Distal upper limb amyotrophy HP:0007149 Upper limb muscle weakness HP:0003484 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141 Parkinsonism HP:0001300	2	1	Barbora Lauerova
00436346	-	Lauerova, submitted 2024	-	M	-	Germany	-	-	-	-	-	CMT4J	Gait disturbance HP:0001288 Impaired tactile sensation HP:0010830 Lower limb muscle weakness HP:0007340 Lower limb amyotrophy HP:0007210 Upper limb muscle weakness HP:0003484 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141 Parkinsonism HP:0001300 Foot deformity HP:0001760	2	1	Barbora Lauerova
00436347	-	Lauerova, submitted 2024	-	M	-	Czech Republic	-	-	-	-	-	CMT4J	Pes cavus HP:0001761 Lower limb muscle weakness HP:0007340 Areflexia HP:0001284 Distal upper limb amyotrophy HP:0007149 Upper limb muscle weakness HP:0003484 Gait disturbance HP:0001288 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141	2	1	Barbora Lauerova
00441138	-	-	-	F	yes	Chile	-	-	-	-	-	CMT4J, SCAR20	HP:0001271; HP:0006855, HP:0008947; HP:0001263; HP:0001249; HP:0001284; HP:0001266; HP:0000407; HP:0001271	1	1	Guillermo Lay-Son
00448528	-	Lauerova, submitted 2024	-	M	-	Czech Republic	-	-	-	-	-	CMT4J	Pes cavus HP:0001761 Lower limb muscle weakness HP:0007340 Areflexia HP:0001284 Distal upper limb amyotrophy HP:0007149 Upper limb muscle weakness HP:0003484 Gait disturbance HP:0001288 Demyelinating peripheral neuropathy HP:0007108 Sensorimotor neuropathy HP:0007141	2	1	Barbora Lauerova

Legend

How to query

Global Variome shared LOVD

FIG4 (FIG4 homolog, SAC1 lipid phosphatase domain c...)