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