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