Premature ovarian insufficiency is a highly heterogeneous condition that can be associated with autoimmune diseases, cytogenetic anomalies and pathogenic variants in more than 75 genes.

Familial hypoparathyroidism may occur as an isolated endocrinopathy or as part of a wider clinical syndrome, including developmental, autoimmune and mitochondrial conditions. Familial forms of hypoparathyroidism can follow autosomal recessive, autosomal dominant and, rarely, X-linked inheritance patterns. Genomic testing can be undertaken if there is a family history, or as part of testing for another condition.

Congenital structural heart disease may occur in isolation or as part of a wider syndrome, and can be detected pre- or postnatally. While the majority of congenital heart disease is sporadic, in approximately 35% of cases there is a genetic cause.

Williams syndrome, caused by a microdeletion on chromosome 7 (position 7q11.23), is a developmental condition characterised by mild to moderate intellectual disability, distinctive facial features and cardiac defects (typically supravalvular aortic stenosis and peripheral pulmonary stenosis).

Girls with Turner syndrome have one normal X chromosome, rather than the usual two. They can present pre- or postnatally with a range of clinical features.

Patau syndrome (trisomy 13) is a genetic condition resulting from the presence of three (rather than the usual two) copies of chromosome 13. It has varied clinical features, commonly including intrauterine growth retardation, microcephaly, cardiac defects, small or absent close-set eyes and extra fingers. It is a severe condition that often results in stillbirth or death in infancy.

Edwards syndrome (trisomy 18) is a severe, multi-system genetic condition resulting from the presence of three (rather than the usual two) copies of chromosome 18. It is often identified during prenatal screening, but may present postnatally.

Down syndrome (trisomy 21) is a genetic condition caused by the presence of three (rather than the usual two) copies of chromosome 21. It is often identified during prenatal screening, but may present at birth or in early childhood.

22q11.2 deletion syndrome (also known as DiGeorge syndrome and velocardiofacial syndrome) is a genetic condition caused by a microdeletion at chromosome position 22q11.2. Clinical features commonly include congenital heart anomalies, palatal defects, speech and hearing problems, developmental delay, mild intellectual disability and hypocalcaemia.