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Items: 5

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Hypocalcemia

Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)

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Hypomagnesemia 1, Intestinal [Supplementary Concept]

A rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of PARATHYROID GLANDS failure and PARATHYROID HORMONE resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or TETANY. Untreated, the disease may be fatal or lead to severe neurologic damage. Mutations in the TRPM6 gene have been identified. OMIM: 602014

Date introduced: November 5, 2012

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Kenny-Caffey syndrome, type 2 [Supplementary Concept]

hereditary disorder caused by mutations in the FAM111A gene and characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. OMIM: 127000

Date introduced: August 25, 2010

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