Disease ID | Source | Name | Description |
612921 | OMIM | 3M syndrome 2 (3M2) | An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. The disease is caused by variants affecting the gene represented in this entry. |