| Disease ID | Source | Name | Description |
| 616263 | OMIM | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD) | A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency. The disease is caused by variants affecting the gene represented in this entry. |