eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gonadal dysgenesis |
| Comorbidity | C0008925|cleft palate |
| Sentences | 1 |
| PubMedID- 20453475 | Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malformations of thoracic spine, and gonadal dysgenesis with female external genitalia and mullerian duct derivatives in the presence of a male karyotype. |
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