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