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, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142 |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DREAMāPL syndrome, Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 |
Component of the following Super Panels:
Signed-off version 3.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 |