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Last reviewed: May 2018

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Kidney cancer | Kidney Health Australia

Read more on Kidney Health Australia website

Pregnancy screening and testing - NT.GOV.AU

Your first doctor visit, scheduled pregnancy check-ups, tests, ultrasounds and genetic screening.

Read more on NT Health website

Caf-au-lait macules - ACD

Caf-au-lait macules (CALMs) are benign well-circumscribed, flat, uniformly light to dark brown spots with a characteristic coffee-with-milk colour.

Read more on Australasian College of Dermatologists website


Neurofibromatosis Category: Brain, Spinal Cord and Nerve Health Topic: Nerve Problems Send by email View as PDF Send by post The term neurofibromatosis (NF) is used in a general way to describe two completely separate genetic conditions, caused by different faulty genes

Read more on Queensland Health website

Epidermolysis bullosa simplex - ACD

Epidermolysis bullosa simplex (EBS) is one of the main types of epidermolysis bullosa (EB). This group of inherited skin fragility disorders is characterised by blistering of the skin with minimal injury.

Read more on Australasian College of Dermatologists website

Fabry disease - ACD

Fabry disease is a rare genetic condition, belonging to a group of diseases called lysosomal storage disease

Read more on Australasian College of Dermatologists website

Brain Foundation | Tuberous Sclerosis

Tuberous Sclerosis Description Tuberous Sclerosis is an uncommon andcomplex genetic disorder

Read more on Brain Foundation website

Brain Foundation | Prader-Willi Syndrome

Prader-Willi Syndrome Prader-Willi Syndrome Description Prader-Willi Syndrome (PWS) is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity

Read more on Brain Foundation website

Brain Foundation | Leukodystrophy

Leukodystrophy Leukodystrophy Description Leukodystrophy and the related term leukoencephalopathy refer to a group of more than thirty-four conditions that affect the myelin, or white matter, of the brain and spinal cord

Read more on Brain Foundation website

Brain Foundation | Dysautonomia

Dysautonomia Dysautonomia (Familial Dysautonomia, Riley-Day Syndrome) Description Familial Dysautonomia (also known as Riley-Day Syndrome) is a rare genetic disorder that affects the sensory and autonomic nerve system

Read more on Brain Foundation website

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