| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
NLD
|
n.a.
|
23
|
No
|
Developmental delay
Motor delay Delayed fine motor development Moderate global developmental delay Delayed gross motor development Hypothyroidism Athetosis Chorea Cognitive impairment Muscular hypotonia -Motor Delayed speech and language development Global developmental delay Show more (+10) |
Developmental delay
Hypothyroidism |