Phenotypes associated with the disease deafness-lymphedema-leukemia syndrome (OMIM:614038):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614038)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614038)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: IEA. (OMIM:614038)
- Inverted CD4:CD8 ratio (HP:0033222): CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. Evidence: PCS. Frequency: 4/14. (PMID:21892158)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: PCS. Frequency: 6/14. (PMID:21892158)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. (OMIM:614038)
- Hypotelorism (HP:0000601): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614038)
- Long fingers (HP:0100807): The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614038)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: PCS. Frequency: 13/14. (PMID:21892158)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614038)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. Frequency: 4/14. (PMID:21892158)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:21892158)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: PCS. Frequency: 7/14. (PMID:21892158)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. (OMIM:614038)