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