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 RBBP8-related microcephaly and intellectual disability, OMIM:251255 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 2, OMIM:606744, Seckel syndrome 2, MONDO:0011715 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Jawad syndrome, 251255, Microcephaly with mental retardation and digital anomalies, Seckel syndrome, 24389050, growth retardation, microcephaly with mental retardation, and a characteristic facial appearance |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MCPH, primary microcephaly, Seckel syndrome 2, 606744 (includes microcephaly), MICROCEPHALIC PRIMORDIAL DWARFISM 2, Jawad syndrome (microcephaly with mental retardation and digital anomalies), 251255, Jawad syndrome, 251255 (includes congenital microcephaly) |