Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid neuronal lipofuscinosis kufs type, 204300, Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, Ceroid neuronal lipofuscinosis 6, 601780 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300, CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 6 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 |
R-numbers: R58 Signed-off version 2.178 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 6, OMIM:601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300 |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Retinal disordersR-numbers: R32, R33, R34, R35 Signed-off version 2.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 6 601780 |