Disease #01666

Official abbreviation FADS
Name akinesia, fetal, deformation sequence (FADS)
OMIM ID 208150
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 21
Phenotype entries for this disease 21
Associated with 3 genes DOK7, MUSK, RAPSN
Associated tissues -
Disease features -
Remarks -


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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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)) Caucasian - 0 - - 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 Caucasian - 0 - - FADS Familial, autosomal recessive KLHL40 KLHL40 2 1 Tom Winder
00080928 - Trujillano et al., submitted unaffected parents - - - - - 0 - - FADS Fetal akinesia deformation sequence (OMIM:208150) DOK7 DOK7 1 1 Daniel Trujillano
00143809 - - - F yes - - - 0 - - FADS - - MUSK 1 1 Elisa De Franco
00152971 - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - 0 - - FADS - CHRNA1 CHRNA1 2 2 Johan den Dunnen
00152972 - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - 0 - - FADS - CHRNA1 CHRNA1 2 2 Johan den Dunnen
00153067 - PubMed: Michalk 2008 2-generation family, 4 affecteds - - Germany - - 0 - - FADS - CHRND CHRND 2 4 Johan den Dunnen
00153068 - PubMed: Michalk 2008 5-generation family, 2 affecteds - - Turkey - - 0 - - FADS - CHRND CHRND 2 2 Johan den Dunnen
00208995 - - - - - Finland - <00y 0 - - 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 0 - - 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 0 - - 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 0 - - FADS 24w gestation no movement DOK7 DOK7 2 1 Johan den Dunnen
00213210 - - - - - (United States) - - 0 - - FADS arthrogryposis, hydrops RAPSN RAPSN 2 1 Tom Winder
00213300 18252226-RAPSNF1.II4 PubMed: Michalk 2008, OMIM:var0013 - M - Pakistan - 10m 0 - - 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 - - 0 - - 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 - - - - 0 - - FADS lethal RAPSN RAPSN 2 3 Johan den Dunnen
00213374 - - - - - United States - - 0 - - FADS - RAPSN RAPSN 2 1 Tom Winder
00217067 - PubMed: Lehtokari 2014 - - - - - - 0 - - FADS lethal, multiple pterygium syndrome NEB NEB 2 1 Johan den Dunnen
00217106 - PubMed: Lehtokari 2014 - - yes - - - 0 - - FADS lethal, multiple pterygium syndrome NEB NEB 2 1 Johan den Dunnen
00217144 - PubMed: Yonath 2012 Pat4 Yonath 2012 - - - Jewish, Ashkenazi - 0 - - FADS - NEB NEB 2 1 Johan den Dunnen
00265829 PatE4 PubMed: Cummings 2017 - M - - - - 0 - - FADS - TTN TTN 2 1 Johan den Dunnen
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