| Disease ID | Source | Name | Description |
| 617403 | OMIM | Cutis laxa, autosomal recessive, 2D (ARCL2D) | A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. The disease is caused by variants affecting the gene represented in this entry. |
| 618012 | OMIM | Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) | A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non-ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |