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