| Cancer Programme |
| Pertinent cancer susceptibility gene panel |
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| Cardiovascular disorders |
| Arteriopathies |
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| Cardiac arrhythmia |
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| Cardiomyopathy |
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| Congenital heart disease |
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| Connective tissue disorders and aortopathies |
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| Lymphatic Disorders |
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| Pulmonary heart disease |
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| Ciliopathies |
| Congenital malformations caused by ciliopathies |
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| Respiratory ciliopathies |
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| Dermatological disorders |
| Atopy |
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| Autoimmune skin disorders |
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| Ectodermal dysplasias |
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| Ichthyoses |
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| Keratodermas |
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| Skin adnexa disorders |
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| Skin fragility disorders |
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| Sun-exposure related conditions |
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| Dysmorphic and congenital abnormality syndromes |
| Autophagy disorders |
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| DNA repair disorders |
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| Dysmorphic disorders |
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| Fetal disorders |
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| Kabuki |
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| Limb disorders |
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| RASopathies |
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| Endocrine disorders |
| Adrenal disorders |
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| Disorders of calcium homeostasis |
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| Disorders of unusual phenotypes |
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| Gonadal and sex development disorders |
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| Growth hormone disorders |
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| Hypothalamic and pituitary disorders |
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| Obesity syndromes |
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| Thyroid disorders |
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| Endocrinology |
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| Gastroenterological disorders |
| Gastrointestinal disorders |
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| Liver disease |
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| Growth disorders |
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders |
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| Growth restriction |
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| Haematological and immunological disorders |
| Haemostasis disorders |
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| Haematological disorders |
| Anaemias and red cell disorders |
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| Haemostasis disorders |
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| Primary immunodeficiency disorders |
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| Hearing and ear disorders |
| Deafness and congenital structural abnormalities |
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| Non-syndromic hearing loss |
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| Other hearing and ear disorders |
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| Metabolic disorders |
| Lysosomal storage disorders |
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| Mitochondrial |
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| Peroxisomal disorders |
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| Specific metabolic abnormalities |
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| Urea Cycle disorders |
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| Neurology and neurodevelopmental disorders |
| Cerebrovascular disorders |
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| Channelopathies |
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| Inherited Epilepsy Syndromes |
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| Motor Disorders of the CNS |
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| Motor and Sensory Disorders of the PNS |
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| Neurodegenerative disorders |
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| Neurodevelopmental disorders |
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| Neuromuscular disorders |
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| Parenchymal brain disorders |
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| Sleep disorders |
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| White matter disorders |
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| Ophthalmological disorders |
| Anterior segment abnormalities |
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| Ocular malformations |
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| Ocular movement disorders |
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| Posterior segment abnormalities |
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| Renal and urinary tract disorders |
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| Disorders of function |
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| Structural renal and urinary tract disease |
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| Syndromes with prominent renal abnormalities |
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| Respiratory disorders |
| Interstitial lung disorders |
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| Structural lung disorders |
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| Vascular lung disorders |
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| Rheumatological disorders |
| Connective tissues disorders |
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| Multi-system inflammatory/autoimmune disorders |
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| Skeletal disorders |
| Choanal anomalies |
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| Craniosynostosis syndromes |
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| Skeletal dysplasias |
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| Tumour syndromes |
| Breast and endocrine |
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| Childhood Tumours |
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| GI tract |
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| Muscle and nerve |
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| Skin |
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| Tumour syndromes |
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| Viral research |
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| not grouped |
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