Hereditary Diffuse Leukoencephalopathy With Spheroids(Leukoencephalopathy, diffuse hereditary, with spheroids 1) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CSF1R/1436 | colony stimulating factor 1 receptor | 5q32 | Chr5, NC_000005.10 (150053295..150113365, complement) |
60071 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | AARS1/16 | alanyl-tRNA synthetase 1 | 16q22.1 | Chr16, NC_000016.10 (70252298..70289506, complement) |
37209 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities