Tozawa, 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
A
JPN
n.a.
5
No
Ataxia
Muscular hypotonia
Speech disturbance
Cerebellar signs
Hypothyroidism
Gait impairment
Motor delay
Delayed gross motor development
Chorea
-Motor
Cognitive impairment
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Ataxia
Muscular hypotonia