Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R57 Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACROMELIC FRONTONASAL DYSOSTOSIS, AFND |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACROMELIC FRONTONASAL DYSOSTOSIS 603671 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACROMELIC FRONTONASAL DYSOSTOSIS |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Acromelic frontonasal dysostosis, 603671, Includes mental retardation, acromelic frontonasal dysostosis with severe intellectual disability |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Acromelic frontonasal dysostosis 603671 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Acromelic frontonasal dysostosis 603671 |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Acromelic frontonasal dysostosis 603671 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Acromelic frontonasal dysostosis 603671 |