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