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Diagnoses

• 22q11 deletion syndrome
• Achondroplasia
• Aicardi syndrome
• Angelman syndrome
• Anonymous
• Apert syndrome
• Arthrogryposis Multiplex Congenita (AMC)
• Becker muscular dystrophy
• Beckwith - Wiedemann syndrome
• CDG
• CHARGE syndrome
• Cornelia de Lange syndrome
• Cri-du-chat syndrome
• Crouzon syndrome
• Cystinosis
• Duchenne muscular dystrophy
• Ehlers-Danlos syndrome
• Epidermolysis bullosa
• Fragile X-syndrome
• Goldenhar syndrome
• Hereditary Spastic Paraplegia
• Hydrocephalus
• Incontinentia pigmenti
• Klinefelter syndrome
• L CHAD
• Laurence-Moon-Bardet-Biedl Syndrome
• Marfan syndrome
• Moebius syndrome
• Myotonic dystrophy (congenital/childhood)
• Neurofibromatosis 1
• Noonan syndrome
• Osteogenesis Imperfecta
• Prader-Willi syndrome
• Primary Ciliary Dyskinesia
• Rett syndrome
• Rubinstein-Taybi syndrome
• Salla Disease
• Sanfilippo syndrom
• Severe language impairment
• Silver Russell syndrome
• Sotos syndrome
• Spinal muscular atrophy (SMA)
• Tourette syndrome
• Tuberous sclerosis
• Turner syndrome
• VACTERL
• Williams syndrome

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