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