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