Disease ID | Source | Name | Description |
617182 | OMIM | Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI) | An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction. The disease is caused by variants affecting the gene represented in this entry. |
617173 | OMIM | Intellectual developmental disorder with cardiac arrhythmia (IDDCA) | An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux. The disease is caused by variants affecting the gene represented in this entry. |