Rare disease

Sanfilippo syndrome fragile X syndrome Perry syndrome cleft lip and cleft palate enlarged vestibular aqueduct familial combined hyperlipidemia precocious puberty Carpenter syndrome Stickler syndrome Sjogren-Larsson syndrome Schimke immuno-osseous dysplasia Fowler syndrome cataract-intellectual disability-hypogonadism syndrome Goldblatt syndrome Snyder-Robinson syndrome hereditary spastic paraplegia 4 spheroid body myopathy Job's syndrome Coffin-Siris syndrome Canavan disease Warsaw breakage syndrome tetra-amelia Char syndrome trisomy 12 trisomy 15 trisomy 3 polycystic liver disease Donohue syndrome Wagner's disease Becker muscular dystrophy distal muscular dystrophy 4 Wiedemann-Steiner syndrome Neutrophil-specific granule deficiency DOCK8 deficiency Warfarin resistance PGM3 deficiency MECP2 duplication syndrome prune belly syndrome ataxia-pancytopenia syndrome Birt-Hogg-Dube syndrome Jokela type spinal muscular atrophy Finnish heritage disease Alpha-thalassemia mental retardation syndrome cholesterol ester storage disease alternating hemiplegia of childhood Sengers syndrome multiple congenital anomalies-hypotonia-seizures syndrome 1 mosaic variegated aneuploidy syndrome 1 Miller syndrome familial hypercholesterolemia