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