Disease ID | Source | Name | Description |
618571 | OMIM | Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) | An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts. The disease is caused by variants affecting the gene represented in this entry. |