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