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 MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171, microcephaly and chorioretinopathy 2, MONDO:0014516 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171, microcephaly and chorioretinopathy 2, MONDO:0014516 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MCPH, primary microcephaly, Microcephaly and chorioretinopathy, autosomal recessive, 2, MCCRP2, Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 |