Table 8 Participants’ profile

Oral facial digital syndrome type 6 and Joubert Syndrome; Familial Amyloid Polyneuropathy;

Myasthenia Gravis; Ocular Motor Apraxia; PSP - PROGRESSIVE SUPRANUCLEAR PALSY; FSHD Muscular dystrophy; Hereditary neuropathy with pressure palsies (HNPP); Charcot Marie Tooth disease; Friedreich’s ataxia; Νeurofibromatosis Type 1; Multiple sclerosis; Centronuclear myopathy related to dynamin 2 mutations (CNM DNM2); Meige syndrome; Emery Dreifuss Muscular Dystrophy; Generalised Dystonia; Carnitine palmitoyltransferase II deficiency II Myopathic Form (CPT II Myopathic Form); Duchenne Muscular Dystrophy; Limb girdle muscular dystrophy; Spinal Muscular Atrophy (Type I); Parry-Romberg syndrome; Common Variable Immunodeficiency (CVID); CVID with BILU Syndrome; Granulomatosis with

polyangiitis (GPA/ Wegener); Familial Mediterranean Fever (FMF); Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis syndrome (PFAPA syndrome); Still disease; Behçet Disease; Psoriatic Arthritis; Relapsing Polychondritis and Ankylosing spondylitis; Cold agglutinin disease; Lichen planopilaris; Oesofageal achalasia; Median arcuate ligament syndrome (MALS).; Glutaric Aciduria Type 1; Maple serum urine disease; Ornithine transcarbamylase (OTC) deficiency; Phenylketonuria (PKU); GABA transaminase deficiency; Non-ketotic Hyperglycinemia; Darier disease; Cutaneous Mastocytosis (child); Xeroderma Pigmentosum; Familial Adenomatous Polyposis; Von Hippel-Lindau disease; Carney-Stratakis Syndrome (Carney Triad); Medullary thyroid cancer MEN2A associated; Ocular Motor Apraxia; Complete achromatopsia 3; BEST disease; Primary Ciliary Dyskinesia or Kartagener syndrome; Cystic Fibrosis; Lymphangioleiomyomatosis; ADNP syndrome; Kleefstra syndrome; Loeys Dietz Type II; 48XXYY; Congenital Muscle-Brain-Eye Disease; Maternally-Inherited Diabetes and Deafness (MIDD); MIRAGE syndrome; Amyloidosis (secondary); Laryngeal cleft; Tuberous Sclerosis; Williams syndrome; Prader-Willi Syndrome; Adrenal insufficiency (Addison disease); Medullary thyroid cancer MEN2A

associated; Biliary atresia; Alpha-1 antitrypsin deficiency; β-thalassaemia; Erdheim-Chester syndrome; Myelofibrosis; Cold agglutinin disease; Erythromelalgia; Thrombophilia; Raynaud disease; Ehlers-Danlos Syndrome; IC (Interstitial Cystitis)

Clinicians: Anaesthesiology; Cardiology; Medical Oncology; Dermatology; General Medicine; Haematology; Clinical Genetics; General Paediatrics; Specialised Paediatrics; Neurology; Nephrology; ENT; Ophthalmology; Nuclear Medicine; Pathology-Oncology, Pulmonology; Radiology-Oncology

Laboratory scientists: Molecular Genetics; Biochemical Genetics; Biology

Allied health professionals: Genetic counselors; Clinical Psychology; Physiotherapy; Speech Therapy; Occupational Therapy; Clinical Nutrition; Social Work