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Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
Features include: Abnormality of the neck, Seizure, Congenital hypoparathyroidism, and Tetany.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Seizure |
Pregnancy and birth | 1 | Congenital hypoparathyroidism |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for familial isolated hypoparathyroidism due to agenesis of parathyroid gland.
4 publications have been identified in PubMed for familial isolated hypoparathyroidism due to agenesis of parathyroid gland. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (100%).
Zhang Y (2024). [PMID: 39342195](https://pubmed.ncbi.nlm.nih.gov/39342195/). *Cell Commun Signal*. [Review / Meta-Analysis]
Papadopoulou CI (2024). [PMID: 38929327](https://pubmed.ncbi.nlm.nih.gov/38929327/). *Children (Basel)*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center