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