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