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