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