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 73
Phenotype entries for this disease 72
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

73 entries on 1 page. Showing entries 1 - 73.
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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
00476082 JC1079 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - BICD2 1 1 Johan den Dunnen
00476083 FP1088 PubMed: Beecroft 2020 analysis 2249 neurology patients - - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - CACNA1S 2 1 Johan den Dunnen
00476084 BV1102 PubMed: Beecroft 2020 analysis 2249 neurology patients - - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - CHRNB1 1 1 Johan den Dunnen
00476085 MK43 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - CHRNG 1 1 Johan den Dunnen
00476086 AA1106 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - CHRNG 1 1 Johan den Dunnen
00476087 RO50 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - COL6A1 1 1 Johan den Dunnen
00476088 JS51 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - COL6A1 1 1 Johan den Dunnen
00476089 PC104 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - DYNC1H1 1 1 Johan den Dunnen
00476090 DF105 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - DYNC1H1 1 1 Johan den Dunnen
00476091 SE132 PubMed: Beecroft 2020 analysis 2249 neurology patients - - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - GBE1 1 1 Johan den Dunnen
00476092 MV154 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - KLHL40 1 1 Johan den Dunnen
00476093 NK1206 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - KLHL40 1 1 Johan den Dunnen
00476094 BN179 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - MYH3 1 1 Johan den Dunnen
00476095 BD180 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - MYH3 1 1 Johan den Dunnen
00476096 CO1237 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - MYH3 1 1 Johan den Dunnen
00476097 FR1240 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - NEB 2 1 Johan den Dunnen
00476098 NG1249 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - PIEZO2 1 1 Johan den Dunnen
00476099 SO1250 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - PIEZO2 1 1 Johan den Dunnen
00476100 JA1251 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - PIEZO2 1 1 Johan den Dunnen
00476101 BG228 PubMed: Beecroft 2020 analysis 2249 neurology patients - - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - RYR1 2 1 Johan den Dunnen
00476102 H229 PubMed: Beecroft 2020 analysis 2249 neurology patients - - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - RYR1 2 1 Johan den Dunnen
00476103 VF246 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - SACS 2 1 Johan den Dunnen
00476104 BS508 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - SCN4A 2 1 Johan den Dunnen
00476105 KG1365 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - TNNI2 1 1 Johan den Dunnen
00476106 FB1366 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; no correlation clinical diagnosis with genetic diagnosis - TNNI2 1 1 Johan den Dunnen
00476107 BF311 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TNNT3 1 1 Johan den Dunnen
00476108 KB313 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TPM2 1 1 Johan den Dunnen
00476109 JW316 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TRPV4 1 1 Johan den Dunnen
00476110 BR1371 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TRPV4 1 1 Johan den Dunnen
00476111 LD1372 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TRPV4 1 1 Johan den Dunnen
00476112 BG323 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TTN 2 1 Johan den Dunnen
00476113 CM1378 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - FADS details not specified; ncorrelation clinical diagnosis with genetic diagnosis - TTN 2 1 Johan den Dunnen
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