Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471, mitochondrial DNA depletion syndrome 13 MONDO:0014198 |
R-numbers: R352 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) |