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
Athetosis
Chorea
Global developmental delay
Developmental delay
Speech disturbance
Gait impairment
Delayed gross motor development
Ataxia
Delayed fine motor development
Motor delay
Hypothyroidism
Cognitive impairment
Delayed speech and language development
-Motor
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Chorea
Hypothyroidism
No
n.a.
ESP
n.a.
n.a.
Yes
Hypothyroidism
n.a.
No
n.a.
ESP
n.a.
n.a.
Yes
Gait impairment
Delayed fine motor development
Ataxia
Cognitive impairment
Developmental delay
Motor delay
Athetosis
Hypothyroidism
Delayed speech and language development
Global developmental delay
-Motor
Delayed gross motor development
Chorea
Speech disturbance
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Hypothyroidism
Chorea