Shetty, 2014: 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.
AUS
2
8
Yes
Motor delay
Global developmental delay
Seizures
Cerebellar signs
Dyskinesia
Ataxia
Myoclonus
-Motor
Hypothyroidism
Developmental delay
Delayed gross motor development
Delayed fine motor development
Gait impairment
Epileptic seizures (of any type)
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Ataxia
Hypothyroidism
Yes
n.a.
AUS
n.a.
4
Yes
Muscular hypotonia
-Motor
Chorea
Hypothyroidism
Show more (+1)
Muscular hypotonia
Chorea