Disease | gonadal dysgenesis |
Phenotype | C0026850|muscular dystrophy |
Sentences | 1 |
PubMedID- 23853703 | The complexity and severity of the phenotype was very variable but characteristically associated with hypogonadism/gonadal dysgenesis, in one case with elevated gonadotrophins, muscular dystrophy/amyotonia and infantile cataract. |
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