Examination of circulating blood cells, bone marrow cells, and the GATA2 nucleotide sequence of individuals with<unk>  typically evidences abnormalities which are not distinctively different from those of individuals with other manifestations of GATA2 deficiency. The specific diagnosis of<unk>  depends on detecting mutations of the GATA2 gene in a setting of clinical findings of hematological disorders, lymphedema, and neurosensory hearing loss. It may be especially difficult to diagnose the<unk>  in the absence of at least one of the latter two clinical signs or in individuals who exhibit anomalies strongly associated with one of the other manifestations of GATA2 deficiency. DNA sequencing of the full GATA2 gene coding region including the intron4 enhancer by Sanger sequencing or high-throughput methods along with DNA copy number analysis should establish the presence of GATA2 gene mutations; comparison of detected gene mutations to the list of inactivating GATA2 gene mutations plus the clinical presentation and family history are essentials in making the diagnosis of the<unk>  and its type of presentation.
Emberger syndrome
Muir–Torre syndrome
Christianson syndrome
Galloway Mowat syndrome
Mungan syndrome
Fraser syndrome
Zieve's syndrome
Cohen syndrome