| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000017 | Nocturia | "Abnormaly increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] |
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| HP:0000103 | Polyuria | |
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| HP:0000128 | Renal potassium wasting | |
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| HP:0000622 | Blurred vision | |
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| HP:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
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| HP:0000823 | Delayed puberty | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001281 | Tetany | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001949 | Hypokalemic alkalosis | |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0001959 | Polydipsia | |
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| HP:0001962 | Palpitations | |
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| HP:0002013 | Vomiting | |
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| HP:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002615 | Hypotension | |
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| HP:0002829 | Arthralgia | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003127 | Hypocalciuria | |
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| HP:0003201 | Rhabdomyolysis | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003470 | Paralysis | "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] |
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| HP:0003621 | Juvenile onset | |
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| HP:0004756 | Ventricular tachycardia | |
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| HP:0005567 | Renal magnesium wasting | |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0030083 | Salt craving | "An excessive desire to eat salt (sodium chloride) or salty foods." [] |
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