Asmus, 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
n.a.
n.a.
1
n.a.
Yes
Chorea
Developmental delay
Cerebellar signs
Hypothyroidism
Motor delay
Athetosis
Dyskinesia
Delayed fine motor development
Delayed gross motor development
Muscular hypotonia
Delayed speech and language development
Motor fluctuations
Global developmental delay
Severe global developmental delay
-Motor
Show more (+12)
Developmental delay
Hypothyroidism
p.Glu205*: het
No
n.a.
n.a.
1
n.a.
Yes
Hypothyroidism
Chorea
Cerebellar signs
-Motor
Athetosis
Show more (+2)
n.a.
p.Glu205*: het
No
n.a.
n.a.
2
n.a.
Yes
-Motor
Cognitive impairment
Chorea
Hypothyroidism
Athetosis
Show more (+2)
n.a.
p.Glu205*: het
No
n.a.
n.a.
2
n.a.
Yes
Dysarthria
-Motor
Delayed speech and language development
Cerebellar signs
Speech disturbance
Chorea
Hypothyroidism
Muscular hypotonia
Athetosis
Delayed fine motor development
Global developmental delay
Delayed gross motor development
Motor delay
Developmental delay
Severe global developmental delay
Show more (+12)
Hypothyroidism
Developmental delay
p.Glu205*: het