Phenotypes for disease #04301

3 entries on 1 page. Showing entries 1 - 3.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000034262 see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ... - - Isolated (sporadic) 25y - - - - Johan den Dunnen 00046580
0000034263 see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ... - - Isolated (sporadic) - - - - - Johan den Dunnen 00046581
0000034715 see paper; at birth bilateral radial aplasia, absent thumbs, microcephaly, micrognathia, cafe au lait spots, absent left kidney, elevated chromosomal breakage in peripheral blood samples treated with DEB, ... - - Isolated (sporadic) - - - - - Johan den Dunnen 00047511
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