Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SECKEL SYNDROME TYPE 1 210600 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 1, OMIM:210600, Seckel syndrome 1, MONDO:0008869 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564, SECKEL SYNDROME TYPE 1 (SCKL1) |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MPD, microcephalic primordial dwarfism, Seckel syndrome 1, 210600, MICROCEPHALIC PRIMORDIAL DWARFISM I |