Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
1900KABUKI SYNDROME 1; KABUK1T-Lymphocytes + IL2Affected
1900KABUKI SYNDROME 1; KABUK1Lymphoblast cellsAffected
6354KABUKI SYNDROME 1; KABUK1DNAAffected
6354KABUKI SYNDROME 1; KABUK1Lymphoblast cellsAffected
1900KABUKI SYNDROME 1; KABUK1DNAAffected
6494KABUKI SYNDROME 1; KABUK1DNAAffected
6494KABUKI SYNDROME 1; KABUK1Lymphoblast cellsAffected