Genomics England
GMS Panels
Panels
Genes and Entities

DONSON

downstream neighbor of SON
OMIM: 611428
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly-micromelia syndrome, 251230, Microcephaly, short stature, and limb abnormalities, 617604
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and limb abnormalities 617604, Microcephaly-micromelia syndrome 251230