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