Phenotype #0000034715

Individual ID 00047511
Associated disease FANCT
Phenotype details 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, ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen