Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
4
|
8
|
n.a.
|
Sleep disorder
Dystonia (any or unspecified) Delayed gross motor development Motor delay Dysmorphic features Bradykinesia Dysarthria Anarthria Global developmental delay Postural instability Cognitive impairment Dystonia, limb Delayed speech and language development Abnormality of skeletal morphology Parkinsonism Abnormal central motor function Rigidity Ataxia Developmental regression Delayed fine motor development Show more (+17) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
10
|
n.a.
|
Dysarthria
Sleep disorder Developmental regression Delayed speech and language development Delayed gross motor development Bradykinesia Ataxia Motor delay Rigidity Dystonia, lower face Abnormal central motor function Mri brain abnormality Parkinsonism Cognitive impairment Facial grimacing Dystonia, limb Postural instability Dystonia, craniofacial Dysmorphic features Dystonia (any or unspecified) Anarthria Show more (+18) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
20
|
20
|
n.a.
|
Dystonia (any or unspecified)
Abnormal central motor function Dystonia, lower face Dysmorphic features Dystonia, craniofacial Spasticity Upper motor neuron dysfunction Hyperreflexia Dysarthria Short stature Abnormality of skeletal morphology Facial grimacing Ataxia Bradykinesia Delayed speech and language development Developmental regression Parkinsonism Postural instability Show more (+15) |
Dysarthria
Developmental regression |