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