Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes KALLMANN SYNDROME |
Green in Hypogonadotropic hypogonadism (GMS)R-numbers: R148 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypogonadotropic hypogonadism type 14 (OMIM 614858) |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, MONDO:0001071, Microcephaly, MONDO:0001149, Short stature,HP:0004322 |