Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MFDGA |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536, MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY, MFDM |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 |