Hypothyroidism and muscular hypertrophy
| Disorder | |
|---|---|
| OMIM #: | #218700 (Click to access OMIM database) |
| Disorder: | Hypothyroidism and muscular hypertrophy |
| Also known as: | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 CHNG2, THYROID DYSGENESIS, THYROID AGENESIS, THYROID HYPOPLASIA, THYROID, ECTOPIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS, HYPOTHYROIDISM, ATHYREOTIC, ATHYREOTIC HYPOTHYROIDISM, RESISTANCE TO THYROTROPIN RTSH, THYROTROPIN RESISTANCE |
| Clinical | |
| Phenotype: | congenital hypothyroidism, myotonia, muscular pseudohypertrophy, developmental delay, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Cross HE, Hollander CS, Rimoin DL, and McKusick VA. (1968) Familial agoitrous cretinism accompanied by musclar hypertrophy. Pediatrics 41(2): 413-420. PubMed ID: 5637792 |
Back