Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651 |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lowry-Wood syndrome, OMIM:226960, Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Roifman syndrome, OMIM:616651 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, Microcephalic osteodysplastic primordial dwarfism, type I, 210710, MPD, microcephalic primordial dwarfism |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 4.31 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Roifman syndrome 616651, Microcephalic osteodysplastic primordial dwarfism, type I 210710 |