| Disease ID | Source | Name | Description |
| 612651 | OMIM | Endocrine-cerebroosteodysplasia (ECO) | Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. The disease is caused by variants affecting the gene represented in this entry. |
| 617924 | OMIM | Juvenile myoclonic epilepsy 10 (EJM10) | A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. The disease is caused by variants affecting the gene represented in this entry. |