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