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