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
Hypothyroidism
Delayed gross motor development
Motor delay
Muscular hypotonia
-Motor
Chorea
Cerebellar signs
Axial hypotonia
Dystonia (any or unspecified)
Dystonia
Ataxia
Gait impairment
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Muscular hypotonia
Chorea
p.Ser175*: het