Table 5. Clinical phenotypes of the six individuals heterozygous for CLN8 R24H.
| Clinical phenotype | Family #2 | Niigata | ||||
|---|---|---|---|---|---|---|
| Father | Sibling #1 | Sibling #2 | Sibling #3 | Patient #1 | Control #1 | |
| Transmission | Unknown | Paternal | Paternal | Paternal | Paternal or de novo | Unknown |
| Sex | Male | Male | Male | Male | Male | Male |
| Age | 43 | 13 | 11 | 8 | 9 | 35 |
| DSM-IV Diagnosis | PDD-NOS | Asperger | Asperger | Asperger | Autism | - |
| Social impairments | + | + | + | + | + | - |
| Communication impairments | - | - | - | - | + | - |
| Restricted repetitive behaviors and interests | - | + | + | + | + | - |
| Comorbidity | - | - | - | - | Selective mutism | - |
| Full-scale IQ | No data | 96 | 80 | 73 | No data | No data |
| Epilepsy | + | - | + | - | + | - |
IQ, intelligence quotient; PDD-NOS, pervasive developmental disorder not otherwise specified.