Moya, 2006: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ESP
|
1
|
n.a.
|
Yes
|
Developmental delay
Cognitive impairment Chorea Athetosis Gait impairment Delayed fine motor development Delayed speech and language development Ataxia -Motor Speech disturbance Global developmental delay Hypothyroidism Motor delay Delayed gross motor development Show more (+11) |
Chorea
Hypothyroidism |
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
|
n.a.
|
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Delayed fine motor development
Motor delay Delayed gross motor development Gait impairment Speech disturbance Ataxia -Motor Chorea Athetosis Developmental delay Global developmental delay Delayed speech and language development Cognitive impairment Hypothyroidism Show more (+11) |
Chorea
Hypothyroidism |