Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Global developmental delay, Intellectual disability, Autism, Behavioral abnormality, Seizures, Microcephaly, Abnormality of eye movement |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076, intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772 |