Rare Conditions Genetic Conditions

YES Is Achondroplasia genetic? ~100% heritable YES Is Acute Intermittent Porphyria genetic? ~100% heritable YES Is Adrenoleukodystrophy genetic? ~100% heritable YES Is Adrenoleukodystrophy genetic? ~100% heritable YES Is Alagille Syndrome genetic? ~100% heritable YES Is Albinism genetic? ~100% heritable YES Is Alpha-1 Antitrypsin Deficiency genetic? ~100% heritable YES Is Alpha-1 Antitrypsin Deficiency genetic? ~100% heritable YES Is Alport Syndrome genetic? ~100% heritable PARTIAL Is Amyloidosis genetic? ~50% heritable YES Is Angelman Syndrome genetic? ~100% heritable YES Is Apert Syndrome genetic? ~100% heritable YES Is Apert Syndrome genetic? ~100% heritable YES Is Ataxia-Telangiectasia genetic? ~100% heritable YES Is Ataxia-Telangiectasia genetic? ~100% heritable YES Is Bardet-Biedl Syndrome genetic? ~100% heritable YES Is Batten Disease genetic? ~100% heritable YES Is Beckwith-Wiedemann Syndrome genetic? ~100% heritable YES Is Beckwith-Wiedemann Syndrome genetic? ~100% heritable PARTIAL Is Brachycephaly genetic? ~50% heritable YES Is CHARGE Syndrome genetic? ~100% heritable YES Is CHARGE Syndrome genetic? ~100% heritable YES Is Campomelic Dysplasia genetic? ~100% heritable YES Is Canavan Disease genetic? ~100% heritable YES Is Colour Blindness genetic? ~100% heritable PARTIAL Is Common Variable Immunodeficiency genetic? ~25% heritable YES Is Complement Deficiency genetic? ~100% heritable YES Is Congenital Adrenal Hyperplasia genetic? ~100% heritable YES Is Congenital Cataracts genetic? ~75% heritable YES Is Cornelia de Lange Syndrome genetic? ~100% heritable YES Is Darier's Disease genetic? ~100% heritable YES Is Dentinogenesis Imperfecta genetic? ~100% heritable YES Is DiGeorge Syndrome genetic? ~100% heritable YES Is DiGeorge Syndrome (22q11.2 deletion) genetic? ~100% heritable YES Is Duchenne Muscular Dystrophy genetic? ~100% heritable YES Is Duchenne Muscular Dystrophy genetic? ~100% heritable YES Is Ehlers-Danlos Syndrome genetic? ~100% heritable YES Is Epidermolysis Bullosa genetic? ~100% heritable YES Is Fabry Disease genetic? ~100% heritable YES Is Fabry Disease genetic? ~100% heritable YES Is Familial Mediterranean Fever genetic? ~100% heritable YES Is Familial Mediterranean Fever genetic? ~100% heritable YES Is Fragile X Syndrome genetic? ~100% heritable YES Is Friedreich Ataxia genetic? ~100% heritable YES Is Galactosaemia genetic? ~100% heritable YES Is Gaucher Disease genetic? ~100% heritable YES Is Gaucher Disease Type 2 genetic? ~100% heritable YES Is Glycogen Storage Disease genetic? ~100% heritable YES Is Haemophilia genetic? ~100% heritable YES Is Hereditary Angioedema genetic? ~100% heritable YES Is Hereditary Deafness genetic? ~100% heritable YES Is Hereditary Haemochromatosis genetic? ~100% heritable YES Is Hereditary Haemorrhagic Telangiectasia genetic? ~100% heritable YES Is Hereditary Hypophosphataemia genetic? ~100% heritable YES Is Hereditary Multiple Exostoses genetic? ~100% heritable YES Is Hereditary Pancreatitis genetic? ~100% heritable YES Is Hereditary Ptosis genetic? ~100% heritable YES Is Hereditary Spastic Paraplegia genetic? ~100% heritable YES Is Holt-Oram Syndrome genetic? ~100% heritable YES Is Hypochondroplasia genetic? ~100% heritable YES Is Ichthyosis genetic? ~100% heritable PARTIAL Is Ichthyosis Vulgaris genetic? ~90% heritable PARTIAL Is Intellectual Disability (Genetic) genetic? ~70% heritable YES Is Kabuki Syndrome genetic? ~100% heritable YES Is Kabuki Syndrome genetic? ~100% heritable YES Is Kallmann Syndrome genetic? ~100% heritable YES Is Kennedy Disease (SBMA) genetic? ~100% heritable PARTIAL Is Klippel-Trenaunay Syndrome genetic? ~50% heritable YES Is Krabbe Disease genetic? ~100% heritable YES Is Krabbe Disease genetic? ~100% heritable YES Is Larsen Syndrome genetic? ~100% heritable YES Is Leber Congenital Amaurosis genetic? ~100% heritable YES Is Leber Hereditary Optic Neuropathy genetic? ~100% heritable YES Is Leukodystrophy genetic? ~100% heritable YES Is Limb-Girdle Muscular Dystrophy genetic? ~100% heritable YES Is Lowe Syndrome genetic? ~100% heritable YES Is MELAS Syndrome genetic? ~100% heritable YES Is Maple Syrup Urine Disease genetic? ~100% heritable YES Is Marfan Syndrome genetic? ~100% heritable YES Is Menkes Disease genetic? ~100% heritable YES Is Metachromatic Leukodystrophy genetic? ~100% heritable YES Is Metachromatic Leukodystrophy genetic? ~100% heritable YES Is Microcephaly genetic? ~80% heritable YES Is Mucopolysaccharidosis genetic? ~100% heritable YES Is Mucopolysaccharidosis (MPS) genetic? ~100% heritable YES Is Myotonic Dystrophy genetic? ~100% heritable YES Is Myotonic Dystrophy genetic? ~100% heritable YES Is Nail-Patella Syndrome genetic? ~100% heritable YES Is Neurofibromatosis Type 1 genetic? ~100% heritable YES Is Neurofibromatosis Type 2 genetic? ~100% heritable YES Is Neurofibromatosis Type 2 genetic? ~100% heritable YES Is Niemann-Pick Disease genetic? ~100% heritable YES Is Niemann-Pick Disease genetic? ~100% heritable YES Is Noonan Syndrome genetic? ~100% heritable YES Is Noonan Syndrome genetic? ~100% heritable YES Is OTC Deficiency genetic? ~100% heritable YES Is Oculopharyngeal Muscular Dystrophy genetic? ~100% heritable YES Is Osteogenesis Imperfecta genetic? ~100% heritable YES Is Osteogenesis Imperfecta genetic? ~100% heritable YES Is Periodic Fever Syndromes genetic? ~100% heritable YES Is Persistent Müllerian Duct Syndrome genetic? ~100% heritable YES Is Phenylketonuria (PKU) genetic? ~100% heritable YES Is Polycystic Kidney Disease genetic? ~100% heritable PARTIAL Is Polydactyly genetic? ~70% heritable YES Is Pompe Disease genetic? ~100% heritable YES Is Prader-Willi Syndrome genetic? ~100% heritable YES Is Primary Ciliary Dyskinesia genetic? ~100% heritable YES Is Primary Ciliary Dyskinesia genetic? ~100% heritable YES Is Primary Immunodeficiency genetic? ~100% heritable YES Is Primary Immunodeficiency genetic? ~90% heritable YES Is Retinitis Pigmentosa genetic? ~100% heritable YES Is Retinitis Pigmentosa genetic? ~100% heritable YES Is Rett Syndrome genetic? ~100% heritable YES Is Rett Syndrome genetic? ~100% heritable YES Is Robinow Syndrome genetic? ~100% heritable YES Is Rubinstein-Taybi Syndrome genetic? ~100% heritable YES Is Severe Combined Immunodeficiency genetic? ~100% heritable YES Is Silver-Russell Syndrome genetic? ~100% heritable YES Is Smith-Lemli-Opitz Syndrome genetic? ~100% heritable YES Is Smith-Lemli-Opitz Syndrome genetic? ~100% heritable YES Is Sotos Syndrome genetic? ~100% heritable YES Is Spinal Muscular Atrophy genetic? ~100% heritable YES Is Spinocerebellar Ataxia genetic? ~100% heritable YES Is Stargardt Disease genetic? ~100% heritable YES Is Tay-Sachs Disease genetic? ~100% heritable YES Is Tay-Sachs Disease genetic? ~100% heritable YES Is Thalassaemia genetic? ~100% heritable YES Is Treacher Collins Syndrome genetic? ~100% heritable YES Is Tuberous Sclerosis Complex genetic? ~100% heritable YES Is Velocardiofacial Syndrome (22q11.2) genetic? ~100% heritable YES Is Von Willebrand Disease genetic? ~100% heritable YES Is Waardenburg Syndrome genetic? ~100% heritable YES Is Williams Syndrome genetic? ~100% heritable YES Is Williams Syndrome genetic? ~100% heritable YES Is Wilson Disease genetic? ~100% heritable YES Is Wiskott-Aldrich Syndrome genetic? ~100% heritable YES Is Wiskott-Aldrich Syndrome genetic? ~100% heritable YES Is Wolf-Hirschhorn Syndrome genetic? ~100% heritable YES Is Wolfram Syndrome genetic? ~100% heritable YES Is Xeroderma Pigmentosum genetic? ~100% heritable YES Is Xeroderma Pigmentosum genetic? ~100% heritable