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