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