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