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