| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
KWT
|
0
|
7
|
n.a.
|
Oculogyric crisis
Myoclonus Hypotonia Hyperreflexia Developmental delay Rigidity Dyskinesia Decreased body weight Short stature Bradykinesia Parkinsonism Delayed motor development Spasticity Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
KWT
|
0
|
7
|
n.a.
|
Hyperreflexia
Delayed motor development Spasticity Dyskinesia Developmental delay Parkinsonism Myoclonus Oculogyric crisis Rigidity Decreased body weight Short stature Bradykinesia Hypotonia Show more (+10) |
n.a.
|