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 15, primary, autosomal recessive, 616486 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 |