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Items: 2

1.

Infantile-onset generalized dyskinesia with orofacial involvement

Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016). [from OMIM]

MedGen UID:
1798887
Concept ID:
C5567464
Disease or Syndrome
2.

Striatal degeneration, autosomal dominant 2

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016). For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161). [from OMIM]

MedGen UID:
934758
Concept ID:
C4310791
Disease or Syndrome

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