Ferrara, 2008: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
ITA
|
n.a.
|
56
|
Yes
|
Developmental delay
Delayed gross motor development Hypothyroidism Global developmental delay Athetosis -Motor Chorea Motor delay Mild global developmental delay Show more (+6) |
Chorea
|
|
Yes
|
♂
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
Developmental delay Chorea Athetosis Delayed fine motor development Motor delay Speech disturbance Global developmental delay -Motor Delayed gross motor development Delayed speech and language development Show more (+8) |
Chorea
|
|
No
|
♀
|
n.a.
|
ITA
|
7
|
26
|
Yes
|
Psychotic sign/sympt.
Gait impairment -Motor Ataxia Falls Chorea Depression Athetosis Hypothyroidism Show more (+6) |
Falls
Chorea |