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