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