Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ARPC4-related microcephaly and developmental delay |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, language impairment, and ocular abnormalities, OMIM:620141, microcephaly, MONDO:0001149 |