Ferrara, 2012: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
USA
3
13
Yes
Cognitive impairment
Motor delay
Psychotic sign/sympt.
Hypothyroidism
Speech disturbance
-Motor
Delayed speech and language development
Chorea
Global developmental delay
Dysarthria
Show more (+7)
n.a.
Yes
n.a.
USA
5
31
Yes
Speech disturbance
Dystonia, leg
Hypothyroidism
Seizures
Falls
-Motor
Chorea
Anxiety
Dysarthria
Dystonia
Dystonia (any or unspecified)
Epileptic seizures (of any type)
Global developmental delay
Cognitive impairment
Delayed speech and language development
Dystonia, laryngeal
Motor delay
Cerebellar signs
Gait impairment
Ataxia
Show more (+17)
Chorea
No
n.a.
USA
1
3
Yes
-Motor
Chorea
Cognitive impairment
Dysarthria
Motor delay
Delayed speech and language development
Global developmental delay
Gait impairment
Hypothyroidism
Show more (+6)
n.a.
No
n.a.
USA
1
1
Yes
Cognitive impairment
Global developmental delay
Hypothyroidism
Dysarthria
Chorea
Gait impairment
Motor delay
-Motor
Delayed speech and language development
Show more (+6)
n.a.
No
n.a.
USA
n.a.
55
Yes
Global developmental delay
Anxiety
Motor delay
Dysarthria
Speech disturbance
Chorea
-Motor
Delayed speech and language development
Cognitive impairment
Show more (+6)
Chorea
No
n.a.
USA
1
4
Yes
Cognitive impairment
Delayed speech and language development
Hypothyroidism
Epileptic seizures (of any type)
-Motor
Global developmental delay
Gait impairment
Chorea
Dysarthria
Seizures
Motor delay
Show more (+8)
n.a.
No
n.a.
USA
1
1
Yes
Motor delay
Cognitive impairment
Delayed speech and language development
Dysarthria
-Motor
Chorea
Global developmental delay
Hypothyroidism
Show more (+5)
n.a.