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