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Hypoparathyroidism-intellectual disability-dysmorphism syndrome is a genetic disorder present from birth (congenital) characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by mutations in the TBCE gene and is inherited in an autosomal recessive manner. Treatment is focused on management of symptoms such as the use of growth hormone to assist in growth.
Source: GARD Last updated on 05-01-20
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