de Filippis, 2014: 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.
|
ITA
|
1
|
n.a.
|
n.a.
|
Delayed fine motor development
Global developmental delay Hypothyroidism Delayed gross motor development Motor delay Chorea Spasticity -Motor Developmental delay Athetosis Cognitive impairment Show more (+8) |
Chorea
Spasticity |
|
Yes
|
♂
|
n.a.
|
ITA
|
1
|
n.a.
|
n.a.
|
Athetosis
Hypothyroidism Delayed gross motor development Speech disturbance Global developmental delay -Motor Chorea Delayed fine motor development Delayed speech and language development Developmental delay Motor delay Muscular hypotonia Cognitive impairment Show more (+10) |
Chorea
Muscular hypotonia |