| DGDP # | 037 |
|---|---|
| Gender | F |
| Year of Birth | 1995 |
| Karyotype | del(8)(q24.3) |
| Phenotype | Developmental arrest, regression to current functional age of 6 months, nonverbal, self injury, severe hypotonia, epilepsy, spasms, scoliosis |
| Notes | - Partial intragenic deletion of TRAPPC9 gene |
| LBL | Yes |
| DNA | Yes |