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
|
Mild global developmental delay
Athetosis -Motor Motor delay Hypothyroidism Developmental delay Chorea Delayed gross motor development Global developmental delay Show more (+6) |
Chorea
|
|
Yes
|
♂
|
n.a.
|
ITA
|
n.a.
|
n.a.
|
Yes
|
Delayed fine motor development
Developmental delay Delayed speech and language development Chorea Hypothyroidism Speech disturbance Delayed gross motor development Athetosis Global developmental delay Motor delay -Motor Show more (+8) |
Chorea
|
|
No
|
♀
|
n.a.
|
ITA
|
7
|
26
|
Yes
|
-Motor
Chorea Depression Psychotic sign/sympt. Gait impairment Hypothyroidism Falls Ataxia Athetosis Show more (+6) |
Chorea
Falls |