Phenotypes associated with the disease hypotrichosis-lymphedema-telangiectasia syndrome (OMIM:607823):
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 4/4. (PMID:12740761)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 4/4. (PMID:12740761)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/5. (PMID:12740761)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: PCS. Frequency: 0/5. (PMID:12740761)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: PCS. Frequency: 2/2. (PMID:12740761)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 1/4. (PMID:12740761)
- Predominantly lower limb lymphedema (HP:0003550): Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. Evidence: PCS. Frequency: 3/4. (PMID:12740761)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 1/5. (PMID:12740761)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/5. (PMID:12740761)
- Palpebral edema (HP:0100540): Edema in the region of the eyelids. Evidence: PCS. Frequency: 1/4. (PMID:12740761)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/5. (PMID:12740761)
- Palmar telangiectasia (HP:0100869): The presence of telangiectases on the skin of palm of hand. Evidence: PCS. Frequency: 2/4. (PMID:12740761)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/5. (PMID:12740761)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 4/4. (PMID:12740761)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12740761)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/5. (PMID:12740761)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 2/4. (PMID:12740761)