Table 1.
Clinical Characteristics of DNAJC12-Deficient Individuals at the Time of Diagnosis
| Developmental Delay/Intellectual Disability | Dystonia | Speech Delay | Axial Hypotonia | Limb Hypertonia | Parkinsonism | Nystagmus | Oculogyric Crisis | Attention Difficulties | Autistic Features | |
|---|---|---|---|---|---|---|---|---|---|---|
| A-IV-2 | − | + | − | + | − | − | + | − | − | − |
| A-IV-4 | − | − | − | − | − | − | − | − | − | − |
| B-IV-1 | + | + | − | − | − | + | − | − | − | − |
| B-IV-2 | − | − | − | − | + | − | − | − | + | − |
| C-II-4 | + | + | + | − | − | − | − | + | − | − |
| D-V-1 | + | + | + | − | − | − | − | − | NA | + |
This table summarizes the clinical characteristics of all affected individuals in this study. Plus sign (+) denotes presence of clinical signs/symptoms; minus sign (−) denotes absence of clinical signs/symptoms; NA indicates information not available.