| 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 Abnormal central motor function Hyperreflexia Upper motor neuron dysfunction Show more (+4) |
Delayed speech and language development
|
|
Yes
|
♂
|
C
|
n.a.
|
4
|
4
|
n.a.
|
Hyperreflexia
Postural instability Ataxia Spasticity Tremor, intention Developmental regression Mri brain abnormality Abnormality of skeletal morphology Delayed speech and language development Tremor (any or unspecified) Upper motor neuron dysfunction Dystonia (any or unspecified) Cognitive impairment Abnormal central motor function Dysarthria Show more (+12) |
Delayed speech and language development
|