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
Hypothyroidism
Gait impairment
Chorea
-Motor
Global developmental delay
Speech disturbance
Delayed fine motor development
Delayed speech and language development
Cognitive impairment
Motor delay
Ataxia
Delayed gross motor development
Developmental delay
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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
Global developmental delay
Motor delay
Ataxia
Delayed fine motor development
Developmental delay
Hypothyroidism
Athetosis
Gait impairment
-Motor
Speech disturbance
Delayed speech and language development
Chorea
Delayed gross motor development
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Hypothyroidism
Chorea