eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | septooptic dysplasia |
| Comorbidity | C0013338|growth hormone deficiency |
| Sentences | 1 |
| PubMedID- 23565482 | A final diagnosis of congenital combined pituitary hormone deficiency (growth hormone plus gonadotropins) due to transcription factor deficiency, most probably septo-optic dysplasia with growth hormone deficiency, also known as de morseir syndrome first described in 1956,[1] leading to short stature and genital ambiguity was made for our patient. |
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