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