| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
n.a.
|
n.a.
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dysarthria Postural instability Delayed speech and language development Hyperreflexia Upper motor neuron dysfunction Abnormal central motor function Show more (+4) |
Delayed speech and language development
|
|
Yes
|
♂
|
C
|
n.a.
|
4
|
4
|
n.a.
|
Upper motor neuron dysfunction
Postural instability Spasticity Ataxia Abnormality of skeletal morphology Developmental regression Delayed speech and language development Cognitive impairment Dysarthria Mri brain abnormality Dystonia (any or unspecified) Abnormal central motor function Hyperreflexia Tremor, intention Tremor (any or unspecified) Show more (+12) |
Delayed speech and language development
|