ISCA-37392-Loss

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green ISCA-37392-Loss Region in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.37	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green ISCA-37392-Loss Region in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green ISCA-37392-Loss Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.161	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green ISCA-37392-Loss Region in Common deletion and duplication syndromes Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green ISCA-37392-Loss Region in Growth failure Version 2.28	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV