Table 3. Clinical phenotypes of the ASD patients with rare missense CLN8 variations.
| Clinical phenotype | Patient | ||||||
|---|---|---|---|---|---|---|---|
| #1 | #2 | #3 | #4 | #5 | #6 | #7 | |
| Variation | R24H | F39L | F39L | R97H | R97H | T108M | N152S |
| Sex | Male | Male | Female | Male | Male | Female | Male |
| Age | 9 | 24 | 21 | 26 | 8 | 10 | 20 |
| DSM-IV Diagnosis | Autism | PDD-NOS | Autism | Autism | Autism | Asperger’s | Autism |
| Comorbidity | Selective mutism | - | Dissociative fugue and mental retardation | - | - | - | Mental retardation |
| Full-scale IQ | No data | No data | 57 | No data | 79 | 79 | 46 |
| Epilepsy | + | - | - | - | - | - | - |
ASD, autism spectrum disorder; IQ, intelligence quotient; PDD-NOS, pervasive developmental disorder not otherwise specified.