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