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