GTPBP1:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green GTPBP1 in Mendeliome Version 1.3802	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888
Green GTPBP1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.376	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888
Green GTPBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888
Green GTPBP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888

4 panels