Phenotypes associated with the disease HELIX syndrome (OMIM:617671):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 13/13. (PMID:28686597)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: IEA. Frequency: 13/13. Onset: Congenital onset (HP:0003577). (PMID:28686597)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: PCS. (PMID:28686597)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:617671)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:617671)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: IEA. (OMIM:617671)
- Hypermagnesemia (HP:0002918): The concentration of magnesium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:28686597)
- Xerostomia (HP:0000217): Dryness of the mouth due to salivary gland dysfunction. Evidence: PCS. Frequency: 13/13. (PMID:28686597)
- 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:28686597)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: PCS. Frequency: 2/2. (PMID:28686597)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:617671)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: IEA. (OMIM:617671)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: IEA. (OMIM:617671)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 4/13. Onset: Juvenile onset (HP:0003621). (PMID:28686597)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: IEA. (OMIM:617671)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 13/13. (PMID:28686597)