| 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 Short stature Decreased body weight Delayed motor development Spasticity Hypotonia Dyskinesia Developmental delay Hyperreflexia Parkinsonism Rigidity Bradykinesia Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
KWT
|
0
|
7
|
n.a.
|
Oculogyric crisis
Delayed motor development Myoclonus Decreased body weight Short stature Dyskinesia Parkinsonism Rigidity Hypotonia Hyperreflexia Bradykinesia Spasticity Developmental delay Show more (+10) |
n.a.
|