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