MCID: CSF005
MIFTS: 1

Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Aliases & Classifications for Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal...

MalaCards integrated aliases for Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia:

Name: Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia 25
Csf1r-Related Alsp 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance appears to be incomplete [karle et al 2013, sundal et al 2015, konno et al 2017]; estimates have not been calculated given the limited number of families reported to date. although csf1r-related alsp is a dominantly inherited disease, de novo mutation occurs and variable expressivity in terms of the phenotype and the disease course can be found in members of the same family sharing the same pathogenic variant...

Summaries for Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal...

MalaCards based summary : Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia, is also known as csf1r-related alsp.

GeneReviews: NBK100239

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GO Terms for Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal...

Sources for Csf1r-Related Adult-Onset Leukoencephalopathy with Axonal...

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