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