All individuals with variants in gene TRPV4

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
00037270	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037271	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037272	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037273	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037274	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037275	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037276	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected axonal neuropathy, generalized hypotonia, walking at the age of 2	1	1	Andreas Laner
00037277	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037278	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037279	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037280	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037281	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037282	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037283	-	-	-	-	-	Germany	-	-	-	-	-	?	MGZ 63889: AMC; MGZ 71461: pelvic amyotrophy and lower limbs, earlychildhood motor developmental delay	1	1	Andreas Laner
00037284	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037285	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037286	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037287	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00219047	28902413-Pat57	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	F	-	(Germany)	-	-	-	-	-	CMT	CMT2C	1	1	Johan den Dunnen
00219048	28902413-Pat58	PubMed: Dohrn 2017, Journal: Dohrn 2017	analysis 612 patients	M	-	(Germany)	-	-	-	-	-	CMT	CMT2C	1	1	Johan den Dunnen
00290593	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	38	Mohammed Faruq
00290594	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00290595	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290596	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00300031	-	PubMed: Antoniadi 2015	analysis 448 inherited peripheral neuropathy cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMT2	-	1	1	Johan den Dunnen
00300644	-	-	-	F	-	Germany	-	-	-	-	-	?	Limb-girdle muscular dystrophy (HP:0006785)	1	1	Andreas Laner
00301385	-	-	-	M	-	Germany	-	-	-	-	-	?	Myositis (HP:0100614); Abnormality of muscle morphology (HP:0011805); Abnormality of the musculature (HP:0003011); Myopathy (HP:0003198)	1	1	Andreas Laner
00304328	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00307189	D15-1019	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	arthrogryposis multiplex congenita	1	1	Gianina Ravenscroft
00307205	D16-1146	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	distal arthrogryposis; bilateral talipes equinovarus; micrognathia; rocker bottom foot; ventricular septal defect; knee flexion contracture	1	1	Gianina Ravenscroft
00307223	D17-1807	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	DA	arthrogryposis multiplex congenita; limb muscle weakness; myopathic facies; bulbar palsy; hypoventilation; skeletal dysplasia	1	1	Gianina Ravenscroft
00359397	Pat13	PubMed: Silveira 2021, Journal: Silveira 2021	-	M	no	Brazil	-	-	-	-	-	dysplasia, metatrophic	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359398	03149	-	-	-	-	-	-	-	-	-	-	dysplasia, metatrophic	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359399	03149	-	-	F	no	Brazil	-	-	-	-	-	dysplasia, metatrophic	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359500	-	-	-	-	-	Brazil	-	-	-	-	-	dysplasia, metatrophic	-	1	1	Karina Silveira
00374877	S-4698	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00397611	Tab4-Pat1	PubMed: Zhang 2015	-	-	-	China	-	-	-	-	-	dysplasia, bone	see paper; ...	1	1	Johan den Dunnen
00397612	Tab4-Pat2	PubMed: Zhang 2015	-	-	-	China	-	-	-	-	-	dysplasia, bone	see paper; ...	1	1	Johan den Dunnen
00397613	Tab4-Pat3	PubMed: Zhang 2015	-	-	-	China	-	-	-	-	-	dysplasia, bone	see paper; ...	1	1	Johan den Dunnen
00397614	Tab4-Pat4	PubMed: Zhang 2015	-	-	-	China	-	-	-	-	-	dysplasia, bone	see paper; ...	1	1	Johan den Dunnen
00403572	Pat1	PubMed: Ragamin 2022	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Netherlands	-	-	-	-	-	?	see paper; ..., relative macrocephaly, dolichocephaly, wide collapsed nasal bridge, hypertelorism, retrognathia, low implanted ears, short webbed neck; vocal cord paresis, fasciculations tongue, atrophy of tongue and hand muscles, thoracic meningomyelocele with syrinx, tethered cord, peripheral polyneuropathy/spinal atrophy, bilateral sensineuronal hearing loss, impairment of respiratory muscles, bilateral pes cavus, normal cognitive development; arthrogryposis multiplex congenita, adducted thumbs, camptodactyly second to fourth digits right hand, clubfeet; cystic lesions of long bones and vertebrae, giant cell lesions of the jaw and skull, thoracic vertebrae fusion, left convex thoracic scoliosis, cubitus valgus, progressive contractures of large joints, short stature (<−5 SD); recurrent respiratory infections, asthma impaired lung function; vesicoureteral reflux and hydronephrosis (neurogenic bladder); chronic blepharitis, hyperopia, papilledema	1	1	Johan den Dunnen
00403573	Pat2	PubMed: Ragamin 2022	2-generation family, 1 affected, unaffected non-carrier parents	F	-	Brazil	-	-	-	-	-	?	see paper; ..., ocular hypertelorism, low implanted ears, left cochlear malformation; vocal cord paresis, left facial palsy, peripheral axonal polyneuropathy, progressive bilateral mixed hearing loss, bilateral pes cavus, normal cognitive development; bone lesions (femur and foot) giant cell lesions of the jaws and skull, cervical bone fusion, scoliosis, limb asymmetry; no pulmonary abnormalities; no urological abnormalities; pigmentary retinopathy; asymptomatic hyperplasia parathyroid glands; bilateral inguinal hernia	1	1	Johan den Dunnen
00408952	XVIII	PubMed: Lerat-2019	-	M	-	France	French	-	-	-	-	retinal disease	bilateral vocal cord paresis, moderate auditory neuropathy hearing loss	1	1	LOVD
00419513	20170	PubMed: Marinakis 2021	-	M	-	Greece	-	-	-	-	-	?	-	1	1	Jan Traeger-Synodinos
00467284	CMH190	PubMed: Soden 2014	family, 1 affected	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00468935	-	PubMed: Retterer 2016	analysis proband (1/3040)	-	-	United States	-	-	-	-	-	?	hypotonia, joint hypermobility	1	1	Johan den Dunnen
00469785	-	PubMed: Jacob 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	India	-	-	-	-	-	skeletal dysplasia	-	1	1	Johan den Dunnen
00469786	-	PubMed: Jacob 2025	2-generation family, 1 affected, unaffected parents	-	-	India	-	-	-	-	-	skeletal dysplasia	-	1	1	Johan den Dunnen
00469787	-	PubMed: Jacob 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	India	-	-	-	-	-	skeletal dysplasia	-	1	1	Johan den Dunnen
00469788	-	PubMed: Jacob 2025	2-generation family, 1 affected, unaffected non-carrier parents	-	-	India	-	-	-	-	-	skeletal dysplasia	-	1	1	Johan den Dunnen
00470641	Pat2	PubMed: Horbacz 2025	patient, affected	F	-	Poland	-	-	-	-	-	scoliosis	see paper; ... scoliosis, no other skeletal defects; no symptoms;	1	1	Johan den Dunnen
00473048	Fam10881Pat160	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, family history	F	yes	Iran	-	-	-	-	-	?	Bilateral ptosis since last year; Muscle weakness; Neuropathy, foot & hand; Sensorineural hearing impairment, mild to moderate, bilateral; Episodic abdominal pain & distension; Cachexia (Adipose tissue loss); Elevated level of CPK.	1	1	Johan den Dunnen
00473810	Fam9704470Pat1281	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	no	Iran	-	-	-	-	-	MDC	Respiratory problem since birth; Clubfoot, bilateral; Motor delay; Difficulty walking, running, climbing steps & rising from seated position; Proximal & distal muscle weakness, leg>arm; Distal muscle atrophy, legs & hands; Scoliosis, mild; Hyperlaxity; Hand tremor; Knees, feet & toes deformities; Gowers sign; Wheelchair-bound from 4y ago; EMG-NCV (year of- 2023): chronic motor neuropathy or neuronopathy.	1	1	Johan den Dunnen
00473882	Fam9807347Pat1389	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	F	yes	Iran	-	-	-	-	-	CMT	Frequent falls & foot drop 16y, Difficulty walking; Lower limb (leg) pain & cramp; Increased DTR; Distal limb muscle weakness due to peripheral neuropathy; Hand tremor; Slow paraparetic gait; EMG-NCV: Chronic sensorimotor axonal type polyneuropathy.	1	1	Johan den Dunnen
00473974	Fam9912938Pat1506	PubMed: Molaei 2025	analysis 2009 neuromuscular disorder individuals; patient, no family history	M	no	Iran	-	-	-	-	-	LGMD	onset 62y, Lower muscle weakness, proximal & distal; Difficulty rising from seated position and climbing steps; Shoulder dropping; NIDDM; Muscle biopsy: chronic neurogenic atrophy or dystrophic process; EMG-NCV: myopathic process with mild chronic axonal sensorimotor polyneuropathy; Slightly elevated CPK; Fatty changes in Legs and Thighs MRI.	1	1	Johan den Dunnen

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Global Variome shared LOVD

TRPV4 (transient receptor potential cation channel,...)