Striatonigral Degeneration, Childhood-onset; Sndc

Clinical Features

Top most frequent phenotypes and symptoms related to Striatonigral Degeneration, Childhood-onset; Sndc

  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia
  • Dystonia
  • Elevated serum creatine phosphokinase
  • Absent speech
  • Developmental regression
  • Unsteady gait
  • Falls
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Striatonigral Degeneration, Childhood-onset; Sndc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
VAC14.

By Fulgent Genetics Fulgent Genetics in United States.

VAC14
Specificity
100 %
Genes
100 %

Alternate names

Striatonigral Degeneration, Childhood-onset; Sndc Is also known as lenk-ploski syndrome;lenk-ploski syndrome.



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