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