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
Muscular hypotonia
Global developmental delay
Motor delay
Delayed speech and language development
Delayed gross motor development
-Motor
Delayed fine motor development
Developmental delay
Chorea
Moderate global developmental delay
Cognitive impairment
Hypothyroidism
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Developmental delay
Hypothyroidism