Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement |