| Disease ID | Source | Name | Description |
| 617164 | OMIM | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (SRMMD) | A disorder characterized by facial dysmorphism, severe micrognathia, microcephaly, rhizomelic short stature, and mild developmental delay. The disease is caused by variants affecting the gene represented in this entry. the skeletal phenotype, that characterizes this disorder, may be due to defective type I collagen transport and reduction of collagen secretion. |