Disease ID | Source | Name | Description |
617755 | OMIM | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) | An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet. The disease is caused by variants affecting the gene represented in this entry. |