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