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