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
Delayed speech and language development
Speech disturbance
Cognitive impairment
-Motor
Dysarthria
Psychotic sign/sympt.
Chorea
Hypothyroidism
Motor delay
Global developmental delay
Show more (+7)
n.a.
Yes
n.a.
USA
5
31
Yes
Dystonia, leg
Global developmental delay
Motor delay
Cognitive impairment
Dystonia
Epileptic seizures (of any type)
Hypothyroidism
Falls
Dystonia (any or unspecified)
Ataxia
Speech disturbance
Anxiety
Dystonia, laryngeal
Seizures
Gait impairment
Dysarthria
-Motor
Chorea
Cerebellar signs
Delayed speech and language development
Show more (+17)
Chorea
No
n.a.
USA
1
3
Yes
Cognitive impairment
Dysarthria
Global developmental delay
Hypothyroidism
Motor delay
Delayed speech and language development
Chorea
-Motor
Gait impairment
Show more (+6)
n.a.
No
n.a.
USA
1
1
Yes
Cognitive impairment
Global developmental delay
Gait impairment
Dysarthria
Chorea
Motor delay
Delayed speech and language development
Hypothyroidism
-Motor
Show more (+6)
n.a.
No
n.a.
USA
n.a.
55
Yes
Dysarthria
-Motor
Anxiety
Chorea
Cognitive impairment
Motor delay
Delayed speech and language development
Global developmental delay
Speech disturbance
Show more (+6)
Chorea
No
n.a.
USA
1
4
Yes
Dysarthria
Gait impairment
-Motor
Hypothyroidism
Motor delay
Cognitive impairment
Delayed speech and language development
Seizures
Global developmental delay
Epileptic seizures (of any type)
Chorea
Show more (+8)
n.a.
No
n.a.
USA
1
1
Yes
Cognitive impairment
-Motor
Chorea
Motor delay
Delayed speech and language development
Global developmental delay
Hypothyroidism
Dysarthria
Show more (+5)
n.a.