Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe microcephaly and short stature |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761, Meckel syndrome 12, OMIM:616258, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914, Microcephaly 20, primary, autosomal recessive, MONDO:0054761 |