Skeletal dysplasiaRegion: ISCA-37394-Loss
2q37.3 terminal region (includes HDAC4) Loss
This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37394-Loss; Initial rating suggestion: green
Created: 6 Mar 2019, 1:52 p.m.
Source NHS GMS was added to Region: ISCA-37394-Loss.
Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045 Phenotypes for Region: ISCA-37394-Loss were set to 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