Aarskog syndrome | Digitorenocerebral syndrome | Gardner syndrome | Ichthyosis prematurity syndrome | Oral-facial-digital syndrome |
Achalasia-alacrima syndrome | Distal hereditary motor neuronopathy | Genitopatellar syndrome | IFAP syndrome with or without BRESHECK syndrome | Osler hemorrhagic telangiectasia syndrome |
Acrocallosal syndrome | Dominant hereditary optic atrophy | Gerstmann-Straussler-Scheinker syndrome | Inborn genetic diseases | Oto-palato-digital syndrome |
Adams-Oliver syndrome | Donnai Barrow syndrome | Glucose transporter type 1 deficiency syndrome | Infantile liver failure syndrome | Ovarian hyperstimulation syndrome |
Aicardi Goutieres syndrome | Duane syndrome | Ghosal hematodiaphyseal syndrome | Infantile-onset ascending hereditary spastic paralysis | Pachydermoperiostosis syndrome |
Alagille syndrome | Dubin-Johnson syndrome | GLUT1 deficiency syndrome | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Pancreatic agenesis and congenital heart disease |
Allan-Herndon-Dudley syndrome | Dyggve-Melchior-Clausen syndrome | GLUT10 deficiency syndrome | Jackson-Weiss syndrome | Papillon-Lefavre syndrome |
Alopecia, neurologic defects, and endocrinopathy syndrome | Ectodermal dysplasia-syndactyly syndrome | GLUT6 deficiency syndrome | Jankovic Rivera syndrome | Paroxysmal familial ventricular fibrillation |
Alport syndrome | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome | Goldmann-Favre syndrome | Jervell and Lange-Nielsen syndrome | Peeling skin syndrome |
Alstrom syndrome | EEM syndrome | Gonadotropin-independent familial sexual precocity | Johanson-Blizzard syndrome | Pena-Shokeir syndrome |
Andermann syndrome | Ehlers-Danlos syndrome | Gorlin syndrome | Joubert syndrome | Pendred's syndrome |
Andersen Tawil syndrome | Eichsfeld type congenital muscular dystrophy | Haim-Munk syndrome | Juvenile polyposis syndrome | Peroxisome biogenesis disorders |
Angelman syndrome | Enhanced s-cone syndrome | Hajdu-Cheney syndrome | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Perrault Syndrome |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | Enlarged vestibular aqueduct syndrome | Helsmoortel-van der aa syndrome | Kabuki syndrome | Perry syndrome |
Arterial tortuosity syndrome | Epidermal nevus syndrome | Hennekam lymphangiectasia-lymphedema syndrome | Kaeser type neurogenic Scapuloperoneal syndrome | Peters plus syndrome |
Ataxia-telangiectasia syndrome | Familial adenomatous polyposis | Hereditary acrodermatitis enteropathica | Kallmann syndrome | Pettigrew syndrome |
ATR-X syndrome | familial Advanced sleep phase syndrome | Hereditary breast and ovarian cancer syndrome | Kartagener syndrome | Peutz-Jeghers syndrome |
Atypical Rett syndrome | familial Alzheimer disease | Hereditary cancer-predisposing syndrome | Keratitis-Ichthyosis-Deafness Syndrome | Pfeiffer syndrome |
Auriculocondylar syndrome | Familial amyloid polyneuropathy | hereditary Colorectal cancer | Knuckle pads, deafness AND leukonychia syndrome | Pierson syndrome |
Autoimmune polyglandular syndrome | Familial aortopathy | Hereditary congenital facial paresis | Leber congenital amaurosis | Pili torti-deafness syndrome |
Autosomal dominant optic atrophy plus syndrome | familial Atrial fibrillation | Hereditary coproporphyria | Leigh syndrome | Pitt-Hopkins syndrome |
autosomal dominant Wolfram-like syndrome | Familial Breast-Ovarian Cancer | Hereditary cutaneous melanoma | LEOPARD syndrome | Pitt-Hopkins-like syndrome |
Autosomal recessive congenital ichthyosis | Familial cancer of breast | Hereditary diffuse gastric cancer | Leprechaunism syndrome | Polyglandular autoimmune syndrome |
Autosomal recessive Dejerine-Sottas syndrome | familial Cd8 deficiency | Hereditary diffuse leukoencephalopathy | Lesch-Nyhan syndrome | Poretti-boltshauser syndrome |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | Familial dysautonomia | hereditary essential Tremor | Lethal Congenital Contracture Syndrome | Primary familial hypertrophic cardiomyopathy |
Axenfeld-Rieger syndrome | familial Dyskinesia | Hereditary factor II deficiency disease | Lethal multiple pterygium syndrome | Progressive familial heart block |
Bannayan-Riley-Ruvalcaba syndrome | familial Erythrocytosis | Hereditary factor IX deficiency disease | Lethal tight skin contracture syndrome | Progressive familial intrahepatic cholestasis |
Baraitser-Winter syndrome | Familial exudative vitreoretinopathy | Hereditary factor XI deficiency disease | Li-Fraumeni syndrome | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
Bardet-Biedl syndrome | familial focal Epilepsy | Hereditary fructosuria | Li-Fraumeni-like syndrome | Proud Levine Carpenter syndrome |
Bartter syndrome | familial Hemophagocytic lymphohistiocytosis | hereditary hemorrhagic Telangiectasia | Lig6 syndrome | PTEN hamartoma tumor syndrome |
Beckwith-Wiedemann syndrome | familial Hypercholanemia | Hereditary insensitivity to pain with anhidrosis | Loeys-Dietz syndrome | Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia |
benign familial infantile Seizures | Familial hypercholesterolemia | Hereditary leiomyomatosis and renal cell cancer | Long QT syndrome | Radial aplasia-thrombocytopenia syndrome |
Benign familial neonatal seizures | familial Hyperinsulinemic hypoglycemia | Hereditary lymphedema | LOPES-MACIEL-RODAN SYNDROME | Rapadilino syndrome |
Benign familial neonatal-infantile seizures | Familial hyperinsulinism | Hereditary motor and sensory neuropathy | Lowe syndrome | Rapp-Hodgkin ectodermal dysplasia syndrome |
Bent bone dysplasia syndrome | familial Hyperlipidemia | Hereditary Myopathy | Lucey-Driscoll syndrome | Rett syndrome |
Bernard Soulier syndrome | Familial hypertrophic cardiomyopathy | Hereditary myopathy with early respiratory failure | Lynch syndrome | Revesz syndrome |
Birk Barel mental retardation dysmorphism syndrome | Familial hypoalphalipoproteinemia | Hereditary nonpolyposis colorectal cancer | Macrocephaly/autism syndrome | Reynolds syndrome |
Bjornstad syndrome with mild mitochondrial complex III deficiency | familial Hypocalciuric hypercalcemia | Hereditary pancreatitis | Majeed syndrome | Roberts-SC phocomelia syndrome |
Blepharophimosis syndrome | Familial hypokalemia-hypomagnesemia | Hereditary Paraganglioma-Pheochromocytoma Syndromes | Marfan lipodystrophy syndrome | Rothmund-Thomson syndrome |
Bloom syndrome | familial Hypoparathyroidism | hereditary Prostate cancer | Marfan syndrome | Rotor syndrome |
Borjeson-Forssman-Lehmann syndrome | Familial hypoplastic, glomerulocystic kidney | Hereditary sensory and autonomic neuropathy | Marinesco-Sjagren syndrome | Rubinstein-Taybi syndrome |
Bosch-Boonstra-Schaaf optic atrophy syndrome | familial Infantile convulsions and paroxysmal choreoathetosis | Hermansky-Pudlak syndrome | Marles Greenberg Persaud syndrome | Sanfilippo syndrome |
Brachydactyly syndrome | Familial infantile myasthenia | Heterotaxy syndrome | McCune-Albright syndrome | Schaaf-yang syndrome |
Branchiooculofacial syndrome | familial infantile Myoclonic epilepsy | Hidrotic ectodermal dysplasia syndrome | McKusick Kaufman syndrome | Schinzel-Giedion syndrome |
Brown-Vialetto-Van Laere syndrome | Familial Intrahepatic Cholestasis | Histiocytosis-lymphadenopathy plus syndrome | McLeod neuroacanthocytosis syndrome | Schopf-Schulz-Passarge syndrome |
Bruck Syndrome | familial limb-girdle Myasthenia | Holt-Oram syndrome | Meckel syndrome | Schuurs-hoeijmakers syndrome |
Brugada syndrome | Familial Mediterranean fever | Hurler syndrome | Meckel-Gruber syndrome | Seckel syndrome |
Carbohydrate-deficient glycoprotein syndrome | Familial medullary thyroid carcinoma | Hutchinson-Gilford progeria syndrome | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Segawa syndrome |
Cardio-facio-cutaneous syndrome | familial Meningioma | Hutchinson-Gilford syndrome | Megaloblastic anemia due to inborn errors of metabolism | Senior-Loken syndrome |
Carnevale syndrome | Familial multiple polyposis syndrome | Hyaline fibromatosis syndrome | Meier-Gorlin syndrome | SeSAME syndrome |
Cerebrooculofacioskeletal Syndrome | familial Paget disease of bone | Hydrolethalus syndrome | Melnick-Fraser syndrome | Sessile serrated polyposis cancer syndrome |
Child syndrome | Familial partial lipodystrophy | Hyperekplexia hereditary | Melnick-Needles syndrome | Severe congenital neutropenia |
Christianson syndrome | Familial porphyria cutanea tarda | Hyperimmunoglobulin E syndrome | MEND syndrome | Short Rib Polydactyly Syndrome |
Chromosome 2q32-q33 deletion syndrome | Familial restrictive cardiomyopathy | Hyperinsulinism-hyperammonemia syndrome | Menkes kinky-hair syndrome | SHORT syndrome |
COACH syndrome | familial spinal Neurofibromatosis | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | Mental retardation-hypotonic facies syndrome X-linked | Shprintzen-Goldberg syndrome |
Cockayne syndrome | familial thoracic Aortic aneurysm | Hyperphosphatasia with mental retardation syndrome | Merosin deficient congenital muscular dystrophy | Sick sinus syndrome |
Coffin-Siris syndrome | Familial X-linked hypophosphatemic vitamin D refractory rickets | Hypomyelination and Congenital Cataract | Microcephaly-capillary malformation syndrome | Siderius X-linked mental retardation syndrome |
Cohen syndrome | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | Miller syndrome | Silver spastic paraplegia syndrome |
Congenital absence of salivary gland | FG syndrome | Hypoplastic left heart syndrome | Mitchell-Riley syndrome | Simpson-Golabi-Behmel syndrome |
Congenital adrenal hyperplasia | Finnish congenital nephrotic syndrome | Hypotrichosis-lymphedema-telangiectasia syndrome | Mitochondrial DNA depletion syndrome | Sjagren-Larsson syndrome |
Congenital adrenal hypoplasia | Floating-Harbor syndrome | | Morquio syndrome | slow-channel congenital Myasthenic syndrome |
Congenital amegakaryocytic thrombocytopenia | Freeman-Sheldon syndrome | | Mowat-Wilson syndrome | Smith-Lemli-Opitz syndrome |
Congenital bilateral absence of the vas deferens | Fuhrmann syndrome | | Muir-Torrao syndrome | Smith-Magenis syndrome |
congenital Bile acid synthesis defect | Fukuyama congenital muscular dystrophy | | Mulibrey nanism syndrome | Sotos Syndrome |
Congenital cataract | | | Multiple congenital anomalies | Spondylocarpotarsal synostosis syndrome |
Congenital diaphragmatic hernia | | | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | Steel syndrome |
congenital Diarrhea | | | Multiple mitochondrial dysfunctions syndrome | Stickler syndrome |
Congenital disorder of deglycosylation | | | Multisystemic smooth muscle dysfunction syndrome | Stiff skin syndrome |
Congenital disorder of glycosylation | | | Muscular dystrophy-dystroglycanopathy | Stuve-Wiedemann syndrome |
congenital Distal spinal muscular atrophy | | | Myelodysplastic syndrome | SUDDEN INFANT DEATH SYNDROME |
Congenital dyserythropoietic anemia | | | Myhre syndrome | Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) |
Congenital erythropoietic porphyria | | | Nager syndrome | Thiamine Metabolism Dysfunction Syndrome |
Congenital generalized lipodystrophy | | | Nance-Horan syndrome | Three M syndrome |
congenital Glaucoma | | | Nephrotic syndrome | Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant |
Congenital glucose-galactose malabsorption | | | Neu-Laxova syndrome | Timothy syndrome |
congenital Glycogen storage disease of heart | | | Neurofibromatosis-Noonan syndrome | TNF receptor-associated periodic fever syndrome (TRAPS) |
Congenital heart disease | | | Neuropathy hereditary sensory and autonomic | Transient myeloproliferative disorder of Down syndrome |
Congenital hyperammonemia | | | Nicolaides-Baraitser syndrome | Trichohepatoenteric syndrome |
Congenital Hypothyroidism | | | Nijmegen breakage syndrome-like disorder | Tuberous sclerosis syndrome |
Congenital ichthyosiform erythroderma | | | nonsyndromic congenital Nail disorder | Turcot syndrome |
Congenital lactase deficiency | | | Noonan syndrome | Ullrich congenital muscular dystrophy |
Congenital long QT syndrome | | | Noonan-Like Syndrome Disorder | Unverricht-Lundborg syndrome |
Congenital microcephaly | | | | Upshaw-Schulman syndrome |
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | | | | Usher syndrome |
Congenital muscular dystrophy | | | | UV-sensitive syndrome |
Congenital muscular dystrophy-dystroglycanopathy | | | | Van der Woude syndrome |
Congenital muscular hypertrophy-cerebral syndrome | | | | Von Hippel-Lindau syndrome |
congenital Myasthenic syndrome | | | | Walker-Warburg congenital muscular dystrophy |
congenital Myopathy | | | | Warburg micro syndrome |
Congenital myotonia | | | | Weaver syndrome |
congenital Neuromuscular disease | | | | Werner syndrome |
congenital neuromuscular Glycogen storage disease | | | | Wiskott-Aldrich syndrome |
congenital Neutropenia | | | | Wolff-Parkinson-White syndrome |
Congenital order of glycosylation | | | | Wolfram syndrome |
Congenital secretory diarrhea | | | | XFE progeroid syndrome |
Congenital sensorineural hearing impairment | | | | X-linked hereditary motor and sensory neuropathy |
Congenital sensory neuropathy | | | | X-linked hydrocephalus syndrome |
congenital stationary Night blindness | | | | Zellweger syndrome |
Cornelia de Lange Syndrome | | | | |
Costello syndrome | | | | |
Cowden syndrome | | | | |
Crouzon syndrome | | | | |
Cryptophthalmos syndrome | | | | |
Cushing's syndrome | | | | |