Fons, 2012: 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.
ESP
2
6
No
Hypothyroidism
Severe global developmental delay
Gait impairment
Falls
Motor delay
Athetosis
Muscular hypotonia
Ataxia
Delayed fine motor development
Delayed gross motor development
-Motor
Global developmental delay
Chorea
Cerebellar signs
Developmental delay
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Motor delay
Chorea
c.463+1G>A: het