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