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A

  • Adrenaleukodystrophy
  • Alagille
  • Alport
  • Angelman syndrome/Rett syndrome
  • Atypical hemolytic uremic syndrome
  • Auto-inflammatory disease

B

  • Biotinidase deficiency
  • Branchio-oto-renal

C

  • CADASIL
  • CHARGE
  • Cholestasis
  • Chronic granulomatous disease
  • Complement deficiency
  • Comprehensive Pulmonary Vascular Disease
  • Congenital Diarrhea
  • Connective Tissue Disorders
  • Cornelia de Lange
  • Craniofacial disorder
  • Craniosynostosis
  • Cystic fibrosis

D

  • DFNB1
  • Diarrhea

F

  • Fever
  • FMR1 CGG repeat expansion analysis

G

  • Galactosemia
  • Glycogen Storage Disease

H

  • Humoral dysfunction
  • Hyperinsulinism

K

  • Kabuki
  • Ketotic Hypoglycemia

M

  • Marfan syndrome
  • Marshall
  • Maturity onset diabetes of the young
  • MSUD

N

  • Neonatal respiratory distress
  • Noonan syndrome

O

  • Obesity
  • Osteogenesis imperfecta
  • Osteopetrosis

P

  • Pancreatitis
  • PKU
  • Pneumothorax
  • Primary ciliary dyskinesia
  • Pulmonary hypertension
  • Pulmonary Vascular
  • Pulmonary Vascular disease

R

  • Rapid Epilepsy
  • Rubinstein Taybi

S

  • Severe combined immunodeficiency
  • Short Stature
  • Stickler syndrome

W

  • Waardenburg
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