Catalog

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

No MMS code

Link to WHO Definition

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland – http://id.who.int/icd/entity/1282942432

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland is an X-linked recessive hypoparathyroidism leading to severe neonatal hypocalcaemia with undetectable parathyroid hormone levels and epilepsy.