Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes congenital hypothyroidism, Bamforth Lazarus syndrome, 241850 (hypothyroidism), Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850, thyroid agenesis, cleft palate, spiky hair, choanal atresia |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BAMFORTH-LAZARUS SYNDROME 241850 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes BAMFORTH-LAZARUS SYNDROME |