DONSON

downstream neighbor of SON
OMIM: 611428, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green DONSON in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome 251230
Green DONSON in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephaly-micromelia syndrome, 251230 Microcephaly, short stature, and limb abnormalities, 617604
Amber DONSON in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Expert Review Radboud University Medical Center, Nijmegen Literature Phenotypes Microcephaly, short stature, and limb abnormalities (MIM 617604) Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome (MIM 251230) Microcephaly-micromelia syndrome 251230 Tags watchlist