Phenotypes associated with the disease intestinal hypomagnesemia 1 (OMIM:602014, an entry in Online Mendelian Inheritance in Man):
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/5. (PMID:12032570)
- Hypomagnesemia (HP:0002917, a Human Phenotype Ontology term): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:12032570)
- Muscle spasm (HP:0003394, a Human Phenotype Ontology term): Sudden and involuntary contractions of one or more muscles. Evidence: IEA. (OMIM:602014)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/5. (PMID:12032570)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:12032570)
- Tetany (HP:0001281, a Human Phenotype Ontology term): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: TAS. (OMIM:602014)
- Hypocalcemia (HP:0002901, a Human Phenotype Ontology term): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: IEA. Frequency: 5/5. (OMIM:602014)