Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
ESP
|
2
|
n.a.
|
No
|
Hypothyroidism
Global developmental delay Motor delay -Motor Delayed fine motor development Delayed speech and language development Muscular hypotonia Developmental delay Gait impairment Cerebellar signs Ataxia Severe global developmental delay Dyskinesia Dystonia (any or unspecified) Delayed gross motor development Falls Dystonia Show more (+14) |
Hypothyroidism
Motor delay |