Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY PRIMARY TYPE 1 251200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY PRIMARY TYPE 1 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200, MICROCEPHALY PRIMARY TYPE 1 (MCPH1) |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 1, primary, autosomal recessive, 251200, Microcephaly 1, Primary, Autosomal Recessive |