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
-Motor
Muscular hypotonia
Delayed gross motor development
Hypothyroidism
Cerebellar signs
Motor delay
Gait impairment
Cognitive impairment
Ataxia
Speech disturbance
Chorea
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Muscular hypotonia
Ataxia