Disease ID | Source | Name | Description |
618653 | OMIM | Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) | An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. The disease is caused by variants affecting the gene represented in this entry. |