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

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

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

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

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

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

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

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

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
