Conditions / Genetic
autosomal dominant hypocalcemia 2
info · Genetic
An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.
Signs and symptoms
- Hypocalcemia
- Paresthesia
- Muscle spasm
- Basal ganglia calcification
- Postnatal growth retardation
- Abnormal circulating phosphate ion concentration
Also known as: HYPOC2