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