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