COG3

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber COG3 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546
Amber COG3 in Mendeliome Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546
Amber COG3 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546
Amber COG3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546
Amber COG3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546

5 panels