Table 2 Phenotypic features of NAA15-related neurodevelopmental syndrome compared to our patient with 4q31.1 deletion
Clinical features | NAA15-related neurodevelopmental syndrome | 4q31.1 deletion (current patient) |
|---|---|---|
Developmental delays | Always, mild to severe | Severe |
Hypotonia | Sometimes | Yes, severe |
Microcephaly | Rare | Yes |
Seizures | Sometimes | No |
Autism | Frequent | Self-injurious behavior |
Heart defects | Sometimes | Yes |
Hypertelorism | Rare | Yes |
Posteriorly rotated ears | Sometimes | Yes |
Triangular chin | Frequent | Yes |