ISCA-37394-Loss

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ISCA-37394-Loss Region in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.507	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV
Green ISCA-37394-Loss Region in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.365	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen NHS GMS Phenotypes 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430
Green ISCA-37394-Loss Region in Common deletion and duplication syndromes Version 0.146	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV
Green ISCA-37394-Loss Region in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.80 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Phenotypes Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV