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