Disease #01666

Official abbreviation FADS
Name akinesia, fetal, deformation sequence (FADS)
OMIM ID 208150
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 3 genes DOK7, MUSK, RAPSN
Associated tissues -
Disease features -
Remarks -


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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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
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