Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R31 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome |
Green in CleftingComponent of the following Super Panels:
Signed-off version 4.102 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PETERS-PLUS SYNDROME |
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome 261540, O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PETERS-PLUS SYNDROME 261540 |
Green in HydrocephalusR-numbers: R86 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome, OMIM:261540 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome, 261540 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome 261540, O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome 261540, O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Peters-plus syndrome 261540, Eye Disorders |