Ferrara, 2008: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
ITA
n.a.
56
Yes
Mild global developmental delay
Athetosis
Hypothyroidism
Delayed gross motor development
Global developmental delay
-Motor
Chorea
Developmental delay
Motor delay
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Chorea
p.Ser175*: het
Yes
n.a.
ITA
n.a.
n.a.
Yes
Delayed gross motor development
Global developmental delay
Hypothyroidism
Speech disturbance
-Motor
Developmental delay
Athetosis
Delayed speech and language development
Chorea
Delayed fine motor development
Motor delay
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Chorea
p.Ser175*: het
No
n.a.
ITA
7
26
Yes
Ataxia
Falls
Depression
Athetosis
Hypothyroidism
Chorea
Psychotic sign/sympt.
Gait impairment
-Motor
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Falls
Chorea
p.Ser175*: het