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