Carré, 2009: 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.
n.a.
FRA
5
n.a.
Yes
Muscular hypotonia
Athetosis
Delayed fine motor development
Developmental delay
Chorea
Delayed gross motor development
Global developmental delay
Motor delay
-Motor
Hypothyroidism
Show more (+7)
Hypothyroidism
c.464-2A>G: het
Yes
n.a.
FRA
3
n.a.
n.a.
Muscular hypotonia
Global developmental delay
Chorea
Motor delay
Developmental delay
-Motor
Delayed gross motor development
Athetosis
Delayed fine motor development
Show more (+6)
Chorea
Yes
n.a.
FRA
2
n.a.
n.a.
Developmental delay
Global developmental delay
Delayed gross motor development
Athetosis
Muscular hypotonia
-Motor
Hypothyroidism
Delayed fine motor development
Motor delay
Chorea
Show more (+7)
Hypothyroidism
Chorea
Yes
n.a.
FRA
1
n.a.
n.a.
Developmental delay
Muscular hypotonia
-Motor
Athetosis
Ataxia
Cerebellar signs
Global developmental delay
Chorea
Delayed fine motor development
Delayed gross motor development
Motor delay
Show more (+8)
n.a.
Yes
n.a.
FRA
2
n.a.
n.a.
-Motor
Delayed gross motor development
Motor delay
Athetosis
Delayed fine motor development
Muscular hypotonia
Hypothyroidism
Global developmental delay
Chorea
Developmental delay
Show more (+7)
Hypothyroidism
Chorea