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