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