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