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