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