| HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH | |
| HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT | |
|
146200
OMIM = Online Mendelian Inheritance of Men | |
|
2238 | |
| Parathyroid hormone, Chorion-specific transcription factor GCMb | |
| rare autosomal dominant | |
| Laboratory findings | Calcium dec (serum) Parathyroid hormone (PTH) dec (serum) Phosphate dec (serum) |
| Symptoms | cataract tetany cerebral calcifications muscle weakness myopathy onset, adolescent onset, childhood onset, infancy seizures Teeth: generalized defect or abnormalities |