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