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
Chorea
-Motor
Motor delay
Hypothyroidism
Developmental delay
Mild global developmental delay
Global developmental delay
Athetosis
Delayed gross motor development
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Chorea
p.Ser175*: het
Yes
n.a.
ITA
n.a.
n.a.
Yes
Hypothyroidism
Delayed speech and language development
Delayed gross motor development
Chorea
Developmental delay
Motor delay
Athetosis
-Motor
Speech disturbance
Global developmental delay
Delayed fine motor development
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Chorea
p.Ser175*: het
No
n.a.
ITA
7
26
Yes
Ataxia
Psychotic sign/sympt.
Gait impairment
-Motor
Falls
Hypothyroidism
Athetosis
Chorea
Depression
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Falls
Chorea
p.Ser175*: het