The Most Genetic Conditions (YES Verdict)

YES Is Achondroplasia genetic? ~100% heritable Achondroplasia is the most common form of short-limbed dwarfism caused by a specific mutation in the… YES Is Acute Intermittent Porphyria genetic? ~100% heritable Acute intermittent porphyria is caused by HMBS gene mutations and causes episodes of abdominal pain … YES Is Adrenoleukodystrophy genetic? ~100% heritable X-linked adrenoleukodystrophy is caused by ABCD1 mutations causing accumulation of very long-chain f… YES Is Alagille Syndrome genetic? ~100% heritable A multisystem disorder affecting the liver heart spine face and eyes caused by mutations in JAG1 or … YES Is Albinism genetic? ~100% heritable Oculocutaneous albinism results from mutations affecting melanin biosynthesis. Multiple gene types e… YES Is Alpha-1 Antitrypsin Deficiency genetic? ~100% heritable Alpha-1 antitrypsin deficiency is a common hereditary condition that can lead to emphysema and liver… YES Is Alport Syndrome genetic? ~100% heritable Alport syndrome is a hereditary kidney disease caused by mutations in collagen genes. It leads to pr… YES Is Androgen Insensitivity Syndrome genetic? ~100% heritable AIS occurs in individuals with XY chromosomes who are partially or completely insensitive to androge… YES Is Angelman Syndrome genetic? ~100% heritable Angelman syndrome is caused by loss of the maternal copy of the UBE3A gene on chromosome 15 and resu… YES Is Antithrombin Deficiency genetic? ~100% heritable Antithrombin deficiency is one of the most thrombogenic hereditary conditions causing a lifetime ris… YES Is Apert Syndrome genetic? ~100% heritable Apert syndrome is characterised by premature fusion of skull bones and fusion of the fingers and toe… YES Is Arrhythmogenic Right Ventricular Cardiomyopathy genetic? ~90% heritable ARVC is an inherited heart muscle disease predisposing to ventricular arrhythmias and sudden cardiac… YES Is Ataxia-Telangiectasia genetic? ~100% heritable A-T is a rare inherited disorder causing progressive loss of coordination immunodeficiency and a gre… YES Is Bardet-Biedl Syndrome genetic? ~100% heritable A ciliopathy causing obesity retinal dystrophy polydactyly and renal anomalies. At least 21 BBS gene… YES Is Batten Disease genetic? ~100% heritable Batten disease (neuronal ceroid lipofuscinosis) is a fatal childhood neurological disorder caused by… YES Is Beckwith-Wiedemann Syndrome genetic? ~100% heritable Beckwith-Wiedemann syndrome is caused by imprinting disorders at chromosome 11p15.5. It causes overg… YES Is Birt-Hogg-Dubé Syndrome genetic? ~100% heritable Birt-Hogg-Dubé syndrome is caused by FLCN mutations and causes benign skin tumours lung cysts and an… YES Is Breast Cancer genetic? ~80% heritable Breast cancer is the most common cancer in women worldwide. Hereditary forms account for 5–10% of ca… YES Is Brugada Syndrome genetic? ~70% heritable Brugada syndrome is an inherited arrhythmia disorder that increases the risk of sudden cardiac death… YES Is CHARGE Syndrome genetic? ~100% heritable CHARGE syndrome is caused by CHD7 mutations and affects the eyes heart choanae retardation genitalia… YES Is Campomelic Dysplasia genetic? ~100% heritable A severe skeletal dysplasia with sex reversal caused by SOX9 mutations or regulatory disruptions. Mo… YES Is Canavan Disease genetic? ~100% heritable Canavan disease is a fatal leukodystrophy caused by ASPA mutations causing spongy degeneration of wh… YES Is Cardiomyopathy genetic? ~50% heritable Cardiomyopathy refers to diseases of the heart muscle. Hypertrophic cardiomyopathy is one of the mos… YES Is Charcot-Marie-Tooth Disease genetic? ~100% heritable CMT is the most common inherited peripheral neuropathy affecting the peripheral nerves controlling m… YES Is Colour Blindness genetic? ~100% heritable Red-green colour blindness is an X-linked condition affecting approximately 8% of males and 0.5% of … YES Is Complement Deficiency genetic? ~100% heritable Hereditary complement deficiencies predispose to recurrent bacterial infections particularly with en… YES Is Congenital Adrenal Hyperplasia genetic? ~100% heritable CAH is caused by mutations in CYP21A2 affecting cortisol production. The most common form causes vir… YES Is Congenital Cataracts genetic? ~75% heritable Lens clouding present at birth. About 25–30% of congenital cataracts are hereditary with multiple ge… YES Is Cornelia de Lange Syndrome genetic? ~100% heritable A multisystem developmental disorder caused by mutations in cohesin complex genes characterised by g… YES Is Cowden Syndrome genetic? ~90% heritable Cowden syndrome is caused by PTEN mutations and causes multiple hamartomas and significantly increas… YES Is Cystic Fibrosis genetic? ~100% heritable Cystic fibrosis is one of the most common severe hereditary diseases in people of Northern European … YES Is Darier's Disease genetic? ~100% heritable A skin disorder causing warty papules in seborrhoeic areas caused by ATP2A2 mutations affecting calc… YES Is Dentinogenesis Imperfecta genetic? ~100% heritable A hereditary dentin disorder causing abnormal tooth development; three types exist all linked to DSP… YES Is DiGeorge Syndrome genetic? ~100% heritable DiGeorge syndrome (22q11.2 deletion syndrome) is caused by a small deletion on chromosome 22 and aff… YES Is DiGeorge Syndrome (22q11.2 deletion) genetic? ~100% heritable Caused by a deletion of chromosome 22q11.2 resulting in heart defects immune deficiency palate abnor… YES Is Duchenne Muscular Dystrophy genetic? ~100% heritable Duchenne MD is the most severe form of muscular dystrophy almost exclusively affecting males. It is … YES Is Ehlers-Danlos Syndrome genetic? ~90% heritable Ehlers-Danlos syndrome is a group of connective tissue disorders characterised by joint hypermobilit… YES Is Elevated Lipoprotein(a) genetic? ~90% heritable Lipoprotein(a) levels are almost entirely genetically determined with the LPA gene variants controll… YES Is Epidermolysis Bullosa genetic? ~100% heritable Epidermolysis bullosa is a group of inherited skin disorders causing extremely fragile skin that bli… YES Is Fabry Disease genetic? ~100% heritable Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations causing accumulation… YES Is Factor V Leiden Thrombophilia genetic? ~100% heritable Factor V Leiden is the most common hereditary thrombophilia in people of European descent affecting … YES Is Familial Adenomatous Polyposis genetic? ~95% heritable FAP is a hereditary condition causing hundreds to thousands of polyps in the colon and rectum. Witho… YES Is Familial Hypercholesterolaemia genetic? ~90% heritable Familial hypercholesterolaemia causes very high LDL cholesterol from birth and dramatically increase… YES Is Familial Hypocalcaemia genetic? ~100% heritable Familial hypocalcaemia with hypercalciuria is caused by activating mutations in the CASR gene causin… YES Is Familial Mediterranean Fever genetic? ~100% heritable Familial Mediterranean fever causes recurrent episodes of fever and inflammation of the abdomen ches… YES Is Fragile X Syndrome genetic? ~100% heritable Fragile X syndrome is the most common inherited cause of intellectual disability caused by an expans… YES Is Friedreich Ataxia genetic? ~100% heritable Friedreich ataxia is the most common hereditary ataxia caused by GAA repeat expansions in the FXN ge… YES Is G6PD Deficiency genetic? ~100% heritable G6PD deficiency is the most common enzyme deficiency affecting millions worldwide. Triggered by cert… YES Is Galactosaemia genetic? ~100% heritable Galactosaemia is an inherited disorder of galactose metabolism caused by GALT gene mutations. It req… YES Is Gaucher Disease genetic? ~100% heritable Gaucher disease is the most common lysosomal storage disorder caused by GBA mutations. It leads to a… YES Is Gaucher Disease Type 2 genetic? ~100% heritable Type 2 Gaucher disease is the most severe form causing rapidly progressive neurological deterioratio… YES Is Glycogen Storage Disease genetic? ~100% heritable Glycogen storage diseases are inherited metabolic disorders affecting glycogen metabolism in the liv… YES Is Gorlin Syndrome genetic? ~100% heritable Gorlin syndrome (basal cell naevus syndrome) causes multiple basal cell carcinomas and jaw cysts as … YES Is Haemochromatosis genetic? ~80% heritable Hereditary haemochromatosis causes excessive iron absorption and accumulation. The HFE gene mutation… YES Is Haemophilia genetic? ~100% heritable Haemophilia A and B are X-linked bleeding disorders caused by deficiencies in clotting factors VIII … YES Is Hereditary Amyloidosis genetic? ~100% heritable Hereditary amyloidosis causes abnormal protein deposits in organs particularly the heart and nerves.… YES Is Hereditary Angioedema genetic? ~100% heritable Hereditary angioedema causes recurrent episodes of severe swelling. The vast majority of cases are c… YES Is Hereditary Breast and Ovarian Cancer genetic? ~85% heritable HBOC syndrome is caused by inherited mutations in BRCA1 or BRCA2 and substantially increases lifetim… YES Is Hereditary Deafness genetic? ~100% heritable GJB2 mutations (connexin 26) account for ~50% of autosomal recessive non-syndromic hearing loss worl… YES Is Hereditary Diffuse Gastric Cancer genetic? ~80% heritable Hereditary syndrome causing diffuse-type gastric cancer with lifetime risk up to 80%. Prophylactic g… YES Is Hereditary Elliptocytosis genetic? ~100% heritable Hereditary elliptocytosis is a red blood cell membrane disorder causing oval-shaped red cells and va… YES Is Hereditary Haemochromatosis genetic? ~100% heritable Iron overload disorder very common in northern Europeans (~1 in 200 homozygous for C282Y). Penetranc… YES Is Hereditary Haemolytic Anaemia genetic? ~100% heritable Hereditary haemolytic anaemias including hereditary spherocytosis are caused by mutations in red blo… YES Is Hereditary Haemorrhagic Telangiectasia genetic? ~100% heritable HHT causes abnormal blood vessel formation leading to recurrent nosebleeds and arteriovenous malform… YES Is Hereditary Hypophosphataemia genetic? ~100% heritable X-linked hypophosphataemia is the most common inherited form of rickets caused by PHEX mutations lea… YES Is Hereditary Multiple Exostoses genetic? ~100% heritable Multiple benign bone tumours (osteochondromas) caused by EXT1 or EXT2 mutations with risk of maligna… YES Is Hereditary Pancreatitis genetic? ~100% heritable Hereditary pancreatitis is caused by PRSS1 mutations that activate trypsin inside the pancreas causi… YES Is Hereditary Ptosis genetic? ~100% heritable Drooping of the upper eyelid. Isolated congenital ptosis shows autosomal dominant inheritance in man… YES Is Hereditary Spastic Paraplegia genetic? ~100% heritable Hereditary spastic paraplegia is a group of inherited conditions causing lower limb spasticity and w… YES Is Hereditary Spastic Paraplegia SPG4 genetic? ~100% heritable SPG4 is the most common form of hereditary spastic paraplegia caused by SPAST gene mutations. It cau… YES Is Hereditary Spherocytosis genetic? ~100% heritable Hereditary spherocytosis is a red blood cell membrane disorder causing spherical fragile red cells. … YES Is Hereditary Thrombophilia genetic? ~100% heritable Hereditary thrombophilias predispose to blood clots. Factor V Leiden and prothrombin G20210A mutatio… YES Is Hereditary Transthyretin Amyloidosis genetic? ~100% heritable hATTR amyloidosis is caused by mutations in the TTR gene causing misfolded transthyretin protein to … YES Is Holt-Oram Syndrome genetic? ~100% heritable Heart-hand syndrome causing atrial septal defect and upper limb malformations due to TBX5 mutations. YES Is Huntington's Disease genetic? ~100% heritable Huntington's disease is caused by an expanded CAG repeat in the HTT gene. Every child of an affected… YES Is Hypertrophic Cardiomyopathy genetic? ~100% heritable The most common inherited heart disease (~1 in 500). Mutations in sarcomere proteins cause abnormal … YES Is Hypochondroplasia genetic? ~100% heritable A relatively mild skeletal dysplasia causing short-limbed dwarfism caused by specific FGFR3 mutation… YES Is Ichthyosis genetic? ~100% heritable Ichthyosis is a group of skin conditions causing dry scaly skin. Several forms are inherited with di… YES Is Juvenile Haemochromatosis genetic? ~100% heritable Juvenile haemochromatosis is a severe form of iron overload presenting before age 30. It is caused b… YES Is Juvenile Polyposis Syndrome genetic? ~95% heritable Juvenile polyposis syndrome causes multiple hamartomatous polyps in the gastrointestinal tract and i… YES Is Kabuki Syndrome genetic? ~100% heritable Kabuki syndrome is a rare developmental disorder characterised by distinctive facial features intell… YES Is Kallmann Syndrome genetic? ~100% heritable Delayed puberty with absent sense of smell due to deficient GnRH neurons. Multiple inheritance patte… YES Is Kennedy Disease (SBMA) genetic? ~100% heritable X-linked spinal and bulbar muscular atrophy caused by CAG repeat expansion in the androgen receptor … YES Is Krabbe Disease genetic? ~100% heritable Krabbe disease is a lysosomal storage disease causing progressive neurological deterioration. Neonat… YES Is Lactose Intolerance genetic? ~65% heritable Lactose intolerance results from reduced production of the lactase enzyme. The MCM6 gene regulates l… YES Is Larsen Syndrome genetic? ~100% heritable Multiple large joint dislocations with distinctive facial features caused by FLNB filamin B mutation… YES Is Leber Congenital Amaurosis genetic? ~100% heritable The most severe inherited retinal dystrophy presenting in infancy. RPE65 gene therapy was the first … YES Is Leber Hereditary Optic Neuropathy genetic? ~100% heritable LHON is a mitochondrially inherited eye disease causing acute painless central vision loss. The muta… YES Is Leukodystrophy genetic? ~100% heritable A group of inherited disorders affecting the myelin sheath of the central nervous system. Over 30 ge… YES Is Li-Fraumeni Syndrome genetic? ~90% heritable Li-Fraumeni syndrome is a rare hereditary cancer predisposition caused by TP53 mutations. It dramati… YES Is Limb-Girdle Muscular Dystrophy genetic? ~100% heritable A heterogeneous group of progressive muscle disorders. Over 30 genetic subtypes exist; CAPN3 mutatio… YES Is Lipodystrophy genetic? ~100% heritable Familial lipodystrophies are inherited disorders of adipose tissue causing abnormal fat distribution… YES Is Long QT Syndrome genetic? ~90% heritable Long QT syndrome is an inherited heart rhythm disorder that can cause fast and chaotic heartbeats an… YES Is Lowe Syndrome genetic? ~100% heritable Lowe syndrome (oculocerebrorenal syndrome) is an X-linked disorder causing cataracts intellectual di… YES Is Lynch Syndrome genetic? ~85% heritable Lynch syndrome is the most common hereditary colorectal cancer syndrome. It is caused by mutations i… YES Is MELAS Syndrome genetic? ~100% heritable Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes caused by mitochondrial DNA… YES Is MODY (Maturity-Onset Diabetes of the Young) genetic? ~100% heritable A monogenic form of diabetes often misdiagnosed as type 1 or type 2. At least 13 MODY genes have bee… YES Is Male Pattern Baldness genetic? ~80% heritable Male androgenetic alopecia (pattern baldness) is the most common form of hair loss. The androgen rec… YES Is Maple Syrup Urine Disease genetic? ~100% heritable Maple syrup urine disease is a rare metabolic disorder affecting the breakdown of branched-chain ami… YES Is Marfan Syndrome genetic? ~95% heritable Marfan syndrome is a connective tissue disorder caused by FBN1 mutations. It affects the heart, bloo… YES Is Maturity-Onset Diabetes of the Young genetic? ~95% heritable MODY is a rare hereditary form of diabetes caused by single-gene mutations affecting insulin secreti… YES Is Menkes Disease genetic? ~100% heritable Menkes disease is an X-linked copper deficiency disorder caused by ATP7A mutations. It causes severe… YES Is Metachromatic Leukodystrophy genetic? ~100% heritable MLD is caused by deficiency of arylsulfatase A leading to accumulation of sulfatides in the nervous … YES Is Microcephaly genetic? ~80% heritable Small brain circumference; primary (genetic) forms caused by mutations in genes controlling neuronal… YES Is Monogenic Hypertension genetic? ~100% heritable Monogenic forms of hypertension caused by single gene mutations affecting aldosterone or cortisol pa… YES Is Mucopolysaccharidosis genetic? ~100% heritable Mucopolysaccharidoses are a group of lysosomal storage diseases caused by deficiency of enzymes need… YES Is Mucopolysaccharidosis (MPS) genetic? ~100% heritable A group of lysosomal storage disorders caused by enzyme deficiencies leading to glycosaminoglycan ac… YES Is Multiple Endocrine Neoplasia Type 1 genetic? ~100% heritable MEN1 is a hereditary syndrome causing tumours in the parathyroid glands pancreas and pituitary. Virt… YES Is Multiple Endocrine Neoplasia Type 2 genetic? ~100% heritable MEN2 is caused by RET mutations and predisposes to medullary thyroid carcinoma phaeochromocytoma and… YES Is Muscular Dystrophy genetic? ~100% heritable Duchenne and Becker muscular dystrophies are X-linked conditions caused by mutations in the DMD gene… YES Is Myotonic Dystrophy genetic? ~100% heritable Myotonic dystrophy is the most common adult form of muscular dystrophy caused by trinucleotide repea… YES Is Nail-Patella Syndrome genetic? ~100% heritable A rare disorder causing underdeveloped nails and kneecaps with kidney and eye complications due to L… YES Is Neurofibromatosis genetic? ~100% heritable Neurofibromatosis type 1 and type 2 are distinct hereditary conditions causing tumours along nerves.… YES Is Neurofibromatosis Type 1 genetic? ~100% heritable Affects 1 in 3000; caused by NF1 tumour suppressor mutations causing skin lesions nerve tumours and … YES Is Neurofibromatosis Type 2 genetic? ~100% heritable NF2 is a rare hereditary condition causing benign tumours of the auditory nerves leading to hearing … YES Is Niemann-Pick Disease genetic? ~100% heritable Niemann-Pick disease is a group of lysosomal storage disorders causing lipid accumulation. Different… YES Is Noonan Syndrome genetic? ~100% heritable Noonan syndrome is a common genetic disorder affecting heart development facial features and growth … YES Is OTC Deficiency genetic? ~100% heritable OTC deficiency is the most common urea cycle disorder caused by OTC gene mutations. It causes ammoni… YES Is Oculopharyngeal Muscular Dystrophy genetic? ~100% heritable Late-onset muscular dystrophy particularly common in French-Canadian and Bukharan Jewish populations… YES Is Osteogenesis Imperfecta genetic? ~100% heritable Osteogenesis imperfecta (brittle bone disease) is caused by mutations in genes encoding type I colla… YES Is Ovarian Cancer genetic? ~39% heritable Ovarian cancer arises in the ovaries and is often diagnosed at a late stage. Women with BRCA1 mutati… YES Is Periodic Fever Syndromes genetic? ~100% heritable Hereditary periodic fever syndromes cause recurrent episodes of fever and inflammation. Multiple dif… YES Is Persistent Müllerian Duct Syndrome genetic? ~100% heritable A disorder of sex development where Müllerian structures persist in chromosomally male individuals d… YES Is Peutz-Jeghers Syndrome genetic? ~95% heritable Peutz-Jeghers syndrome causes gastrointestinal polyps and skin pigmentation spots with significantly… YES Is Phenylketonuria genetic? ~100% heritable Phenylketonuria (PKU) is caused by mutations in the PAH gene which impairs the breakdown of the amin… YES Is Polycystic Kidney Disease genetic? ~100% heritable Polycystic kidney disease is one of the most common life-threatening hereditary diseases. PKD1 mutat… YES Is Pompe Disease genetic? ~100% heritable Pompe disease (glycogen storage disease type II) is caused by GAA mutations causing glycogen accumul… YES Is Prader-Willi Syndrome genetic? ~100% heritable Prader-Willi syndrome is caused by loss of function of genes on chromosome 15 that are normally only… YES Is Primary Ciliary Dyskinesia genetic? ~100% heritable Primary ciliary dyskinesia is a rare hereditary condition affecting the microscopic hairs that line … YES Is Primary Immunodeficiency genetic? ~100% heritable Primary immunodeficiencies are a group of over 350 inherited disorders affecting the immune system. … YES Is Protein C Deficiency genetic? ~100% heritable Protein C deficiency is a hereditary coagulation disorder causing increased risk of venous thromboem… YES Is Protein S Deficiency genetic? ~100% heritable Protein S deficiency is a hereditary thrombophilia similar in presentation to protein C deficiency c… YES Is Prothrombin Thrombophilia genetic? ~100% heritable The prothrombin G20210A mutation is the second most common hereditary thrombophilia. It causes eleva… YES Is Pyruvate Kinase Deficiency genetic? ~100% heritable Pyruvate kinase deficiency is the most common glycolytic enzyme deficiency causing chronic haemolyti… YES Is Retinitis Pigmentosa genetic? ~100% heritable Retinitis pigmentosa is a group of genetic eye disorders causing progressive loss of peripheral and … YES Is Retinoblastoma genetic? ~90% heritable Retinoblastoma is a childhood eye cancer. Hereditary forms are caused by germline mutations in the R… YES Is Rett Syndrome genetic? ~100% heritable Rett syndrome is a rare neurological disorder primarily affecting girls caused by mutations in the M… YES Is Robinow Syndrome genetic? ~100% heritable Robinow syndrome causes short stature skeletal abnormalities and distinctive facial features. Autoso… YES Is Rubinstein-Taybi Syndrome genetic? ~100% heritable A syndrome causing intellectual disability broad thumbs and toes and distinctive facial features due… YES Is Severe Combined Immunodeficiency genetic? ~100% heritable SCID is a group of rare life-threatening primary immunodeficiencies. The X-linked form caused by IL2… YES Is Sickle Cell Anaemia genetic? ~100% heritable Sickle cell anaemia is caused by a specific mutation in the HBB gene altering haemoglobin structure.… YES Is Silver-Russell Syndrome genetic? ~100% heritable A growth retardation syndrome caused by imprinting defects at chromosome 11p15 or maternal UPD7. Ass… YES Is Smith-Lemli-Opitz Syndrome genetic? ~100% heritable SLO syndrome is caused by DHCR7 mutations affecting cholesterol synthesis. It causes intellectual di… YES Is Sotos Syndrome genetic? ~100% heritable An overgrowth syndrome with tall stature macrocephaly and intellectual disability caused by NSD1 mut… YES Is Spinal Muscular Atrophy genetic? ~100% heritable Spinal muscular atrophy is a serious hereditary disease affecting motor neurones. Carrier testing is… YES Is Spinocerebellar Ataxia genetic? ~100% heritable Spinocerebellar ataxias are a group of inherited disorders causing progressive neurodegeneration of … YES Is Stargardt Disease genetic? ~100% heritable The most common inherited macular dystrophy causing progressive central vision loss in childhood or … YES Is Tay-Sachs Disease genetic? ~100% heritable Tay-Sachs disease is a fatal lysosomal storage disorder caused by HEXA mutations. Carrier screening … YES Is Thalassaemia genetic? ~100% heritable Thalassaemia encompasses a group of inherited blood disorders affecting haemoglobin production. Alph… YES Is Transient Neonatal Diabetes genetic? ~100% heritable Transient neonatal diabetes is a rare form of diabetes presenting at birth caused by overexpression … YES Is Treacher Collins Syndrome genetic? ~100% heritable A craniofacial dysostosis syndrome affecting cheekbones jaws and ears caused by TCOF1 mutations in ~… YES Is Tuberous Sclerosis genetic? ~100% heritable Tuberous sclerosis complex causes benign tumours to grow in the brain and other organs. It is caused… YES Is Tuberous Sclerosis Complex genetic? ~100% heritable Causes benign tumours in multiple organs (brain kidney lung skin) due to TSC1 or TSC2 mutations. ~65… YES Is Velocardiofacial Syndrome (22q11.2) genetic? ~100% heritable A multisystem disorder caused by 22q11.2 deletion causing heart defects cleft palate immune deficien… YES Is Von Hippel-Lindau Syndrome genetic? ~100% heritable Hereditary syndrome causing haemangioblastomas clear cell renal carcinoma and phaeochromocytoma due … YES Is Von Willebrand Disease genetic? ~100% heritable Von Willebrand disease is the most common inherited bleeding disorder. It is caused by mutations in … YES Is Waardenburg Syndrome genetic? ~100% heritable A disorder causing pigmentation defects and congenital hearing loss due to neural crest development … YES Is Williams Syndrome genetic? ~100% heritable Williams syndrome is caused by a deletion of about 26 genes on chromosome 7 including the ELN gene. … YES Is Wilson Disease genetic? ~100% heritable Wilson disease is a rare inherited disorder causing copper accumulation in the liver and brain. It i… YES Is Wiskott-Aldrich Syndrome genetic? ~100% heritable Wiskott-Aldrich syndrome is an X-linked primary immunodeficiency causing thrombocytopenia eczema and… YES Is Wolf-Hirschhorn Syndrome genetic? ~100% heritable A contiguous gene deletion syndrome (4p16.3) causing severe intellectual disability seizures growth … YES Is Wolfram Syndrome genetic? ~100% heritable Wolfram syndrome causes diabetes insipidus diabetes mellitus optic atrophy and deafness. It is cause… YES Is Xeroderma Pigmentosum genetic? ~100% heritable Xeroderma pigmentosum causes extreme sensitivity to ultraviolet light and a dramatically increased r…