Leukodystrophy And Acquired Microcephaly With Or Without Dystonia; Ldamd
Genes related to Leukodystrophy And Acquired Microcephaly With Or Without Dystonia; Ldamd
- PLEKHG2
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.
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 moreSources and references
You can check the following sources for additional information.
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