Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY PRIMARY TYPE 4 604321, SECKEL SYNDROME TYPE 5 613823 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MICROCEPHALY PRIMARY TYPE 4, SECKEL SYNDROME TYPE 5 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823, MICROCEPHALY PRIMARY TYPE 4 (MCPH4) |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 9, primary, autosomal recessive, 614852, Seckel syndrome 5, 613823, microcephaly primary type 4 (MCPH4), 604321 |