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