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 Primary microcephaly, cortical malformation and epileptic encephalopathy |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 |
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 microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 |
Component of the following Super Panels:
Signed-off version 4.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730, Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 |