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
|
Cognitive impairment
Ataxia Global developmental delay Delayed speech and language development Hypothyroidism Motor delay Chorea Athetosis Delayed fine motor development Gait impairment Delayed gross motor development Speech disturbance -Motor Developmental delay Show more (+11) |
Hypothyroidism
Chorea |
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
|
n.a.
|
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
Athetosis -Motor Motor delay Cognitive impairment Delayed fine motor development Developmental delay Chorea Delayed gross motor development Global developmental delay Speech disturbance Gait impairment Delayed speech and language development Ataxia Show more (+11) |
Hypothyroidism
Chorea |