Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 4.40 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lethal Neurometabolic Disorder of Early Childhood |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 |
R-numbers: R63 Signed-off version 3.69 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 |
Component of the following Super Panels:
Signed-off version 3.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 |