Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
AUS
|
2
|
8
|
Yes
|
Motor delay
Global developmental delay Seizures Cerebellar signs Dyskinesia Ataxia Myoclonus -Motor Hypothyroidism Developmental delay Delayed gross motor development Delayed fine motor development Gait impairment Epileptic seizures (of any type) Show more (+11) |
Ataxia
Hypothyroidism |
|
Yes
|
♂
|
n.a.
|
AUS
|
n.a.
|
4
|
Yes
|
Muscular hypotonia
Chorea |