Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. [From Orphanet]
Neoplasms
Neoplasms of uncertain or unknown behaviour
Autosomal dominant
3q21.3
Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614038.1 | Lebanon | Male | Hearing impairment; Motor delay; Ped... Hearing impairment; Motor delay; Pedal edema; Edema of the dorsum of feet  | NM_001145661.2:c.1032_1036dup | Heterozygous | Autosomal, Dominant | Nair et al. 2018 |