| Disease ID | Source | Name | Description |
| 615547 | OMIM | Schaaf-Yang syndrome (SHFYNG) | A disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features. The disease is caused by variants affecting the gene represented in this entry. All mutations occurred on the paternal allele. |