Beckwith-Wiedemann syndrome is a genetic condition caused by disruption of the chromosome region 11p15 genomic imprinting.

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 that varies in severity, depending on the type of genetic variant that has caused it.

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.