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Genetic Disorder’s List

Cardiology

  • Brugada Syndrome
  • Cardiomyopathy
  • Dilated Cardiomyopathy (DCM)
  • Ehlers-Danlos Syndrome
  • Fabry Disease
  • Familial Hypercholesterolemia
  • Hypertrophic Cardiomyopathy (HCM)
  • Left Ventricular Non-Compaction Cardiomyopathy (LVNC)
  • Long QT Syndrome (LQTS)
  • Marfan Syndrome
  • Noonan Syndrome / RASopathies Comprehensive
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Neurology

  • Adrenoleukodystrophy
  • Ataxia
  • Autism Spectrum Disorders
  • Becker Muscular Dystrophy (BMD)
  • Charcot-Marie-Tooth Neuropathy
  • Congenital Hypotonia
  • Dementia
  • Dystonia
  • Epileptic Encephalopathy
  • GRIN2B-related Neurodevelopmental Disorder
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • Leukoencephalopathy
  • Metabolic Epilepsy
  • Parkinson Disease
  • Rett syndrome
  • Sotos Syndrome
  • X-linked Intellectual Disability
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Nephrology

  • Alport Syndrome
  • Bardet-Biedl Syndrome
  • Bartter syndrome
  • Cystic Kidney Disease
  • Diabetes Insipidus
  • Joubert Syndrome
  • Nephronophthisis
  • Nephrotic Syndrome
  • Primary Ciliary Dyskinesia
  • Renal Tubular Acidosis
  • Senior-Loken Syndrome
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Ear, Nose and Throat

  • Alport Syndrome
  • Branchio-Oto-Renal (BOR) Syndrome
  • Comprehensive Hearing Loss and Deafness
  • Hereditary Hemorrhagic Telangiectasia (HHT)
  • Non-Syndromic Hearing Loss
  • Pendred Syndrome
  • Sensorineural Hearing Loss (SNHL)
  • Stickler Syndrome
  • Syndromic Hearing Loss
  • Usher Syndrome
  • Waardenburg Syndrome
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Opthalmology

  • Albinism
  • Cataract
  • Cone-Rod Dystrophy, Autosomal Dominant
  • Corneal Dystrophy
  • Glaucoma
  • Hereditary Retinoblastoma
  • Leber Congenital Amaurosis, Autosomal Dominant
  • Leigh Syndrome
  • Macular Dystrophy, Autosomal Dominant
  • Neuro-Ophthalmology
  • Nystagmus
  • Optic Atrophy
  • Retinal Dystrophy
  • Retinitis Pigmentosa, Autosomal Dominant (adRP)
  • Stargardt Disease
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Endocrinology

  • 17 Alpha-Hydroxylase/17,20-Lyase Deficiency
  • Achalasia-Addisonianism-Alacrima
  • Androgen Insensitivity Syndrome (AIS)
  • Congenital Adrenal Hyperplasia
  • Hyperlipidemia
  • Hypoglycemia, Hyperinsulinism and Ketone Metabolism
  • Hypothyroidism and Resistance to Thyroid Hormone
  • MODY
  • Monogenic Obesity
  • Pendred Syndrome
  • Premature Ovarian Failure
  • Triple-A Syndrome
  • X-linked Adrenal Hypoplasia Congenita
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Gastroenterology

  • Cholestasis
  • Congenital Hepatic Fibrosis
  • Hypercholanemia and defects of bile acid synthesis
  • Infantile Liver Failure Syndrome
  • Metabolic liver failure
  • Non-fatty liver disease
  • Pancreatitis
  • Polycystic Liver Disease
  • Recurrent acute liver failure
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Dermatology

  • Ehlers-Danlos Syndrome
  • Epidermolysis Bullosa
  • Focal Dermal Hypoplasia
  • Ichthyosis
  • Keratosis Follicularis Spinulosa Decalvans (KFSD)
  • Neurofibromatosis
  • Psoriasis
  • Tuberous Sclerosis
  • Xeroderma Pigmentosum
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Skeletal Disorder

  • Craniosynostosis
  • Dent Disease
  • Hereditary Multiple Exostoses (HME)
  • Hypocalcemia, Autosomal Dominant (ADH)
  • Mabry syndrome
  • Metachondromatosis
  • Metaphyseal Dysplasia without Hypotrichosis
  • Multiple Epiphyseal Dysplasia (MED)
  • Neonatal Severe Primary Hyperparathyroidism (NSHPT)
  • Osteochondrodysplasias
  • Osteogenesis Imperfecta (OI)
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Rickets, Hypophosphatemic, Autosomal Dominant
  • Skeletal Dysplasia
  • Ulnar-mammary syndrome
  • Vitamin D-dependent rickets
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