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