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