Willemsen, 2005: 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
C
NLD
n.a.
23
No
Athetosis
Motor delay
Moderate global developmental delay
-Motor
Delayed gross motor development
Delayed speech and language development
Hypothyroidism
Developmental delay
Muscular hypotonia
Chorea
Cognitive impairment
Delayed fine motor development
Global developmental delay
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Hypothyroidism
Developmental delay