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