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