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