Leukodystrophy And Acquired Microcephaly With Or Without Dystonia; Ldamd

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy And Acquired Microcephaly With Or Without Dystonia; Ldamd

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Intellectual disability, severe
  • Dystonia
  • Postnatal microcephaly
  • Progressive microcephaly
  • Leukodystrophy

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Leukodystrophy And Acquired Microcephaly With Or Without Dystonia; Ldamd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH (Germany).

BCS1L, SCO2, SCP2, AIMP1, SDHA, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SOX10, SPG11, STX11, STXBP2, SUCLA2, SURF1, ACOX1, TREX1, TUFM, TYROBP, MCOLN1 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH (Germany).

SCP2, AIMP1, SLC16A2, SLC17A5, SOX10, ACOX1, TREX1, TYROBP, VPS11, SAMHD1, BCAP31, MLC1, GJC2, TREM2, RNASEH2A, IFIH1, AARS, POLR1C, CLCN2, SUMF1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
PLEKHG2.

By Fulgent Genetics Fulgent Genetics (United States).

PLEKHG2
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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