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