Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: myotonia, muscular pseudohypertrophy, cretinism, hypothyroidism 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2007-07-31 

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 

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