Disease #01666 (FADS (akinesia, fetal, deformation sequence (FADS)))

Official abbreviation	FADS
Name	akinesia, fetal, deformation sequence (FADS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	41
Phenotype entries for this disease	40
Associated with 4 genes	DOK7, MUSK, NUP88, RAPSN
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-10-27 12:54:08 +01:00 (CET)

Individuals

Legend

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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
(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.

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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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41 entries on 1 page. Showing entries 1 - 41.

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
00056440	-	PubMed: Watson 2016, Journal: Watson 2016	3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents	-	yes	(United Kingdom (Great Britain))	white	-	-	-	-	FADS	see paper; data from 3 children, died <2d, ...	MYOD1, OTOG	MYOD1, OTOG, SAA1, SOWAHA	4	3	Christopher Watson
00079709	-	-	previous child (now deceased) also affected	M	-	United States	white	-	-	-	-	FADS	Familial, autosomal recessive	KLHL40	KLHL40	2	1	Tom Winder
00080928	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	FADS	Fetal akinesia deformation sequence (OMIM:208150)	DOK7	DOK7	1	1	Daniel Trujillano
00143809	-	-	-	F	yes	-	-	-	-	-	-	FADS	-	-	MUSK	1	1	Elisa De Franco
00152971	-	PubMed: Michalk 2008	2-generation family, 2 affecteds	-	-	-	Africa	-	-	-	-	FADS	-	CHRNA1	CHRNA1	2	2	Johan den Dunnen
00152972	-	PubMed: Michalk 2008	4-generation family, 2 affected sibs	-	-	Pakistan	-	-	-	-	-	FADS	-	CHRNA1	CHRNA1	2	2	Johan den Dunnen
00153067	-	PubMed: Michalk 2008	2-generation family, 4 affecteds	-	-	Germany	-	-	-	-	-	FADS	-	CHRND	CHRND	2	4	Johan den Dunnen
00153068	-	PubMed: Michalk 2008	5-generation family, 2 affecteds	-	-	Turkey	-	-	-	-	-	FADS	-	CHRND	CHRND	2	2	Johan den Dunnen
00208995	-	-	-	-	-	Finland	-	<00y	-	-	-	FADS	Fetal akinesia sequence	SLC18A3	SLC18A3	1	2	Anna Hakonen
00211278	19261599-MPS012	PubMed: Vogt 2009	fetus1 family, 3 affecteds, parents and 2 healthy children heterozygous carriers	-	-	India	Bengal	<0d	-	-	-	FADS	32w gestation stillborn	DOK7	DOK7	2	3	Johan den Dunnen
00211279	19261599-MPS012	PubMed: Vogt 2009	fetus2 family, 3 affecteds, parents and 2 healthy children heterozygous carriers	-	-	India	Bengal	<0d	-	-	-	FADS	22w gestation miscarriage	DOK7	DOK7	2	1	Johan den Dunnen
00211280	19261599-MPS012	PubMed: Vogt 2009	fetus3 family, 3 affecteds, parents and 2 healthy children heterozygous carriers	-	-	India	Bengal	<0d	-	-	-	FADS	24w gestation no movement	DOK7	DOK7	2	1	Johan den Dunnen
00213210	-	-	-	-	-	(United States)	-	-	-	-	-	FADS	arthrogryposis, hydrops	RAPSN	RAPSN	2	1	Tom Winder
00213300	18252226-RAPSNF1.II4	PubMed: Michalk 2008, OMIM:var0013	-	M	-	Pakistan	-	10m	-	-	-	FADS	faciocranial dysmorphism, high arched palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures	RAPSN	RAPSN	2	1	Johan den Dunnen
00213301	18252226-RAPSNF1.II5	PubMed: Michalk 2008, OMIM:var0013	-	F	-	Pakistan	-	-	-	-	-	FADS	faciocranial dysmorphism, jigh arched palate, cleft palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures	RAPSN	RAPSN	2	1	Johan den Dunnen
00213345	-	PubMed: Vogt 2008	affected twin fetus	M	-	-	-	-	-	-	-	FADS	lethal	RAPSN	RAPSN	2	3	Johan den Dunnen
00213374	-	-	-	-	-	United States	-	-	-	-	-	FADS	-	RAPSN	RAPSN	2	1	Tom Winder
00217067	-	PubMed: Lehtokari 2014	-	-	-	-	-	-	-	-	-	FADS	lethal, multiple pterygium syndrome	NEB	NEB	2	1	Johan den Dunnen
00217106	-	PubMed: Lehtokari 2014	-	-	yes	-	-	-	-	-	-	FADS	lethal, multiple pterygium syndrome	NEB	NEB	2	1	Johan den Dunnen
00217144	-	PubMed: Yonath 2012	Pat4 Yonath 2012	-	-	-	Jewish-Ashkenazi	-	-	-	-	FADS	-	NEB	NEB	2	1	Johan den Dunnen
00265829	PatE4	PubMed: Cummings 2017	-	M	-	-	-	-	-	-	-	FADS	-	TTN	TTN	2	1	Johan den Dunnen
00307179	D12-950	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	family, 2 affected siblings	-	-	Australia	-	-	-	-	-	FADS	fetal akinesia sequence; decreased fetal movement; arthrogryposis; multiplex congenita hydrops fetalis; pterygium; hypoplastic heart; pulmonary hypoplasia; skeletal muscle hypertrophy; high palate	GLDN	GLDN	2	2	Gianina Ravenscroft
00307181	D13-1032	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	arthrogryposis multiplex congenita; pretibial dimple	CHRNG	CHRNG	1	1	Gianina Ravenscroft
00307183	D14-0067	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	reduced fetal movements; polyhydramnios; distal arthrogryposis; talipes; generalized hypotonia; myopathic facies; short chin; cleft palate	NEB	NEB	2	1	Gianina Ravenscroft
00307202	D16-0750	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	family, 2 affected siblings	-	-	Australia	-	-	-	-	-	FADS	antenatal onset; talipes; polyhydramnios	CACNA1S	CACNA1S	2	2	Gianina Ravenscroft
00307204	D16-1073	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	distal arthrogryposis; polyhydramnios	SCN4A	SCN4A	2	1	Gianina Ravenscroft
00307209	D16-1596	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	antenatal onset fetal akinesia sequence; neonatal hypotonia; macrocephaly at birth; frontal bossing; cryptorchidism; congenital finger flexion contractures; contractures joints upper limbs; contractures joints lower limbs; aplasia/hypoplasia; palmar creases	ACTA1	ACTA1	1	1	Gianina Ravenscroft
00307213	D17-0045	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	antenatal onset; hypoplasia musculature; elbow flexion contracture; knee flexion contracture; hip contracture; pterygium; cystic hygroma; dextrotransposition great arteries; ventricular septal defect hypoplastic left heart; abnormal cerebral morphology	MYO18B	MYO18B	2	1	Gianina Ravenscroft
00307224	D17-1855	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	stillbirth; multiple pterygia; fetal akinesia sequence; aplasia/hypoplasia involving the skeletal musculature; talipes equinovarus; flexion contracture; cerebral palsy; abnormal lung lobation	NEB	NEB	2	1	Gianina Ravenscroft
00307231	D18-0294	PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	-	-	-	Australia	-	-	-	-	-	FADS	antenatal onset; distal arthrogryposis	CHRNG	CHRNG	2	1	Gianina Ravenscroft
00315496	patient	PubMed: Abdalla 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	2-generation family, 1 affected fetus, unaffected heterozygous carrier parents (first cousin)	M	yes	Egypt	-	-	-	-	-	FADS	see paper; multiple pterygia; fetal akinesia sequence; arthrogryposis multiplex congenita; cystic hygroma; hydrops fetalis; polyhydramnios; intaruterine growth restriction; camptodactyly; ulnar deviation of finger; long philtrum; downslanted palpebral fissures; hypertelorism; low-set ears , ...	NEB	NEB	1	1	Johan den Dunnen
00315497	FamB	PubMed: Bonnin 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	2-generation family, 1 affected, unaffected heterozygous carrier parents/sisters	M	-	Australia	European	-	-	-	-	FADS	see paper; decreased fetal movements; polyhydramnios; arthrogryposis multiplex congenita; hypoplasia musculature; posteriorly rotated ears; microretrognathia, ...	NUP88	NUP88	2	1	Johan den Dunnen
00315498	FamA	PubMed: Bonnin 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020	2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents (2nd cousins)/relatives	F;M	yes	Palestine	-	-	-	-	-	FADS	see paper; ...	NUP88	NUP88	1	4	Johan den Dunnen
00417858	FamPatIII1	PubMed: Watson 2016	3 generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	M	yes	United Kingdom (Great Britain)	white	00y00m02d	-	-	-	FADS	prenatal cystic hygroma polyhydramnios; see paper; ..., birth 35w+5, low weight; neonatal death; triangular face, downslanted palpebral fissures, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm right-sided eventration, pulmonary hypoplasia, ventilatory support; generalized muscle weakness; clinodactyly; bilateral cryptorchidism; bilateral renal pelvis distension	-	MYOD1, OTOG	2	3	Johan den Dunnen
00417860	FamPatIII2	PubMed: Watson 2016	brother	M	-	United Kingdom (Great Britain)	-	00y00m01d	-	-	-	FADS	see paper; ..., prenatal polyhydramnios; birth 35w+1, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm very high domes, pulmonary hypoplasia; generalized muscle weakness; clinodactyly; unilateral cryptorchidism; unlateral hydronephrosis	MYOD1	MYOD1	1	1	Johan den Dunnen
00417861	FamPatIII4	PubMed: Watson 2016	half-sister	F	-	United Kingdom (Great Britain)	-	00y00m01d	-	-	-	FADS	see paper; ..., prenatal cystic hygroma; birth 37w, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm extremely high domes, pulmonary hypoplasia; generalized muscle weakness; no clinodactyly; renal hypoplasia	MYOD1	MYOD1	1	1	Johan den Dunnen
00418310	Pat3	PubMed: Bruno 2011, Journal: Bruno 2011	-	-	-	Australia	-	-	-	-	-	FADS	-	-	DOK7	1	1	Johan den Dunnen
00456560	S4	PubMed: Harms 2025	-	?	yes	-	-	-	-	-	-	FADS	edema [HP:0000969]	COL25A1	COL25A1	1	1	Frederike Leonie Harms
00456561	S5	PubMed: Harms 2025	-	?	yes	-	-	-	-	-	-	FADS	Increased nuchal translucency [HP:0010880]; edema [HP:0000969]	COL25A1	COL25A1	1	1	Frederike Leonie Harms
00456562	S6	PubMed: Harms 2025	-	M	yes	-	-	-	-	-	-	FADS	Anhydramnios [HP:0025700]; Distal amyotrophy [HP:0003693]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999]; Hydrops fetalis [HP:0001789]; Increased nuchal translucency [HP:0010880]; Talipes equinovarus [HP:0001762]	COL25A1	COL25A1	1	1	Frederike Leonie Harms
00456672	S7	PubMed: Harms 2025	-	F	yes	-	-	-	-	-	-	FADS	Hydrops fetalis [HP:0001789]; Cystic hygroma [HP:0000476]	COL25A1	COL25A1	1	1	Frederike Leonie Harms

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Global Variome shared LOVD

UBA1 (ubiquitin-like modifier activating enzyme 1)