de Gusmao, 2016: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
BRA
n.a.
3
No
Axial hypotonia
Delayed gross motor development
Ataxia
Dystonia (any or unspecified)
Chorea
-Motor
Motor delay
Dystonia
Gait impairment
Muscular hypotonia
Hypothyroidism
Cerebellar signs
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Chorea
Muscular hypotonia
p.Ser175*: het