| Disease ID | Source | Name | Description |
| 617452 | OMIM | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies (IDDFSDA) | An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. Additional features include microcephaly, absent speech, hypotonia, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. The disease is caused by variants affecting the gene represented in this entry. |