Barreiro, 2011: 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
n.a.
No
Delayed fine motor development
Cerebellar signs
Severe global developmental delay
Dystonia
Global developmental delay
Dystonia (any or unspecified)
Delayed gross motor development
Gait impairment
Delayed speech and language development
Muscular hypotonia
Motor delay
Dyskinesia
Ataxia
Hypothyroidism
Developmental delay
-Motor
Falls
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Motor delay
Hypothyroidism
c.464-1G>A: het