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