- 5p- Minus Syndrome
- Albers-Schonberg Disease of Osteopetrosis
- Alexander's Dyzlania
- Alport syndrome
- Andersen-Warburg syndrome
- Atresia
- Auditory Neuropathy
- Branchio-Oto-Renal Syndrome
- Cerebral Palsy
- Charcot-Marie-Tooth
- CHARGE Association
- Cleidocranial Dysostosis
- Cockayne's syndrome
- Connexin 26, Connexin 30, GJB2 gene, GJB6
- Cornelia de Lang Syndrome
- Cru du chat syndrome
- Crouzon's Syndrome
- Cytomegalic inclusion disease
- Duane's Syndrome
- Ectodermal dysplasia
- Enlarged Vestibular Aquaduct Syndrome
- Epstein Syndrome
- Fanconi's Anemia syndrome
- Fechtner syndrome
- Fehr's corneal dystrophy
- Feidrich's Ataxia
- Fragile X Syndrome & Turner's Syndrome
- Goldenhar Syndrome
- Hallgren's syndrome
- Hemifacial Microsomia
- Hereditary Arthro-ophthalmopathy
- Hunter's Syndrome
- Hurler's Syndrome
- HSAN
- Klippel-Feil Syndrome
- Leber's syndrome
- 18q-Syndrome
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- Lobster-Claw syndrome
- Long QT syndrome & Jervell and Lange-Nielsen Syndrome
- Macrothrombocytopathia
- Marfan's Syndrome
- Marshall/ Stickler Syndrome
- Melnick Fraser Syndrome
- Micrognatha
- Microtia
- Mobius Syndrome
- Mohr's Syndrome
- Mosaic Syndrome
- Muckle-Wells Syndrome
- Mucopolysaccharidosis I
- Mucopolysaccharidosis II
- muscular dystrophy
- Nager/Miller Syndrome
- Neurofibromatosis
- Norrie's Disease
- Norrie-Warburg syndrome
- Osteogenesis Imperfecta
- Otopalatodigital syndrome
- OAV Spectrum
- Paget's Disease
- Pendred syndrome
- Pierre Robin Syndrome
- Pyle's Disease
- Refsum's disease
- Ring 6 Disorder
- Saddle-Nose syndrome
- Schiebe aplasia
- Surcardiac syndrome
- Tay Sach's Disease
- Townes-Brock Syndrome
- Treacher Collins Syndrome
- Trisomy 13-15, Trisomy 18, & Trisomy 21 Syndrome
- Usher syndrome
- Van Buchem's syndrome
- Van Der Hoeve's syndrome
- Waardenburg syndrome
- Wildervanck syndrome
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