| Disease ID | Source | Name | Description |
| 618761 | OMIM | CATIFA syndrome (CATIFA) | An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. The disease is caused by variants affecting the gene represented in this entry. |