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