| Disease ID | Source | Name | Description |
| 618156 | OMIM | Squalene synthase deficiency (SQSD) | An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. The disease is caused by variants affecting the gene represented in this entry. |