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
Hypothyroidism
Global developmental delay
Motor delay
-Motor
Delayed fine motor development
Delayed speech and language development
Muscular hypotonia
Developmental delay
Gait impairment
Cerebellar signs
Ataxia
Severe global developmental delay
Dyskinesia
Dystonia (any or unspecified)
Delayed gross motor development
Falls
Dystonia
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Hypothyroidism
Motor delay
c.464-1G>A: het