Name

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

MHB Gene

myopathy, hyaline body, autosomal recessive

WDM Gene

Welander distal myopathy

MPD3 Gene

Myopathy, distal 3