Beckwith-Wiedemann syndrome is a congenital imprinting disorder characterized by overgrowth, macroglossia, abdominal wall defects, hemihyperplasia, neonatal hypoglycemia and increased risk of embryonal tumours. It is caused by genetic and epigenetic changes at chromosome 11p15.5.

Williams syndrome is a multisystem genetic condition that results in intellectual disability and increased chance of supravalvular aortic stenosis.

Tuberous sclerosis complex is a rare genetic condition that is characterised by benign tumours in the skin, bones and some organs. It is often associated with seizures and neurodevelopmental conditions.

Non-syndromic hearing loss can be partial or total, and accounts for approximately 70% of all cases of genetic hearing loss. It is not associated with any other signs or symptoms.

Sotos syndrome is a rare genetic condition that causes overgrowth in childhood, developmental delay, learning difficulties and distinctive facial features.

Nijmegen breakage syndrome is a rare genetic condition characterised by short stature, microcephaly, distinctive facial features, intellectual disability and recurrent infections.

PTEN syndrome is the umbrella term for a spectrum of genetic conditions, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and PTEN-related Proteus syndrome and Proteus-like syndrome.

Neurofibromatosis type 1 is a multisystem genetic condition characterised by cafe-au-lait macules, neurofibromas and sometimes learning and/or behavioural problems.

Fragile X syndrome is a genetic condition that usually affects males more severely than females. Signs and symptoms typically include developmental issues, including intellectual disability, social communication and behavioural issues, and a characteristic facial appearance which may become more prominent with age.

Angelman syndrome is a genetic condition that affects the nervous system. It is characterised by developmental delay, intellectual disability, severe speech impairment and ataxia.