Progressive Sclerosing Poliodystrophy(Mitochondrial dna depletion syndrome 4a) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive 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 | POLG/5428 | DNA polymerase gamma, catalytic subunit | 15q26.1 | Chr15, NC_000015.10 (89316320..89334824, complement) |
18505 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EDAR/10913 | ectodysplasin A receptor | 2q13 | Chr2, NC_000002.12 (108894471..108989220, complement) |
94750 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities