Phenotypes for disease #01666

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000043064 see paper; data from 3 children, died <2d, ... - - Familial, autosomal recessive 00y00m00d - 00y00m00d - - Johan den Dunnen 00056440
0000059422 Familial, autosomal recessive - - Familial, autosomal recessive - - <1d - - Tom Winder 00079709
0000060497 Fetal akinesia deformation sequence (OMIM:208150) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00080928
0000116594 - - - Familial, autosomal recessive - - - - - Elisa De Franco 00143809
0000125706 - fetal akinesia deformation sequence disorder (FADS) - Isolated (sporadic) - - - - - Johan den Dunnen 00152971
0000125707 - fetal akinesia deformation sequence disorder (FADS) - Isolated (sporadic) - - - - - Johan den Dunnen 00152972
0000125783 - fetal akinesia deformation sequence disorder (FADS) - Isolated (sporadic) - - - - - Johan den Dunnen 00153067
0000125784 - fetal akinesia deformation sequence disorder (FADS) - Isolated (sporadic) - - - - - Johan den Dunnen 00153068
0000159760 32w gestation stillborn fetal akinesia deformation sequence FADS Isolated (sporadic) - - - - - Johan den Dunnen 00211278
0000159761 22w gestation miscarriage fetal akinesia deformation sequence FADS Isolated (sporadic) - - - - - Johan den Dunnen 00211279
0000159762 24w gestation no movement fetal akinesia deformation sequence FADS Isolated (sporadic) - - - - - Johan den Dunnen 00211280
0000161685 arthrogryposis, hydrops fetal akinesia deformation sequence FADS Unknown - - - - - Tom Winder 00213210
0000161775 faciocranial dysmorphism, high arched palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures fetal akinesia deformation sequence FADS Isolated (sporadic) - - <0d respiratory/feeding problems, cryptorchism, decreased movements, joint contractures - Johan den Dunnen 00213300
0000161776 faciocranial dysmorphism, jigh arched palate, cleft palate, downslanting palpebral fissures, hypertelorism, micrognathia, low-set ears, hypotonia, contractures fetal akinesia deformation sequence FADS Isolated (sporadic) - - <0d respiratory/feeding problems, weak cry, decreased movements, joint contractures - Johan den Dunnen 00213301
0000161820 lethal fetal akinesia deformation sequence FADS Unknown - - <0d - - Johan den Dunnen 00213345
0000161843 - fetal akinesia deformation sequence FADS Familial, autosomal recessive - - - - - Tom Winder 00213374
0000165518 lethal, multiple pterygium syndrome fetal akinesia - Isolated (sporadic) - - - - - Johan den Dunnen 00217067
0000165557 lethal, multiple pterygium syndrome fetal akinesia - Isolated (sporadic) - - - - - Johan den Dunnen 00217106
0000165595 - fetal akinesia - Isolated (sporadic) - - - - - Johan den Dunnen 00217144
0000173730 Fetal akinesia sequence - - Familial, autosomal recessive - <00y - - - Anna Hakonen 00208995
Legend