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
|
Ataxia
Cognitive impairment Chorea Global developmental delay Hypothyroidism Gait impairment Delayed fine motor development Delayed speech and language development Delayed gross motor development Athetosis Speech disturbance Motor delay Developmental delay -Motor 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
|
Cognitive impairment
Delayed gross motor development Athetosis Chorea Motor delay Gait impairment Ataxia Developmental delay Hypothyroidism Delayed fine motor development -Motor Delayed speech and language development Speech disturbance Global developmental delay Show more (+11) |
Chorea
Hypothyroidism |