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