Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes EIF5A-related craniofacial-neurodevelopmental disorder |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Faundes-Banka syndrome, OMIM:619376 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Faundes-Banka syndrome, OMIM:619376 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Faundes-Banka syndrome, OMIM:619376 |