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