eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kallmann syndrome |
| Comorbidity | C0034012|delayed puberty |
| Sentences | 2 |
| PubMedID- 20543690 | Recent findings: substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same kallmann syndrome gene defects including in newer ones (fgf8 and chd7) continues to be repeatedly observed. |
| PubMedID- 24189182 | Loss-of-function mutations of kal1 results in kallmann syndrome with delayed puberty and anosmia. |
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