Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes arthrogryposis, MONDO:0008779, fetal akinesia |
R-numbers: R46 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Congenital fibrosis of the extraocular muscles, Fibrosis of extraocular muscles, congenital, 1 135700, Fibrosis of extraocular muscles, congenital, 3B 135700 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Arthrogryposis, fetal akinesia |