Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, Cortical Malformations, and Mental Retardation, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317, MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION (MCMMR) |
Component of the following Super Panels:
Signed-off version 4.12 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 604317 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MCPH, primary microcephaly, Primary Microcephaly 2 With or Without Cortical Malformations, Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317, microcephaly cortical malformations and mental retardation (MCMMR), 604317, Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |