Currarino, syndrome or triad of

Cryptophthalmos syndrome

Crouzon, disease ou syndrome

Criggler-Najjar, syndrome

Cri-du-chat, syndrome or disease

Cowden, syndrome

Dysostosis: mandibulo-facial

Occipital horns, syndrome

Cerebral deficiency in folates

Cori, disease

Conradi-Hünermann, syndrome

Cohen, syndrome

Coffin-Siris, syndrome

Cockayne, syndrome de

Cobalamine, congenital deficit

CINCA syndrome

Chylomicron retention disease

Christ-Touraine-Siemens, syndrome

Chondrodysplasia: punctata

Stone man, disease

Costello, syndrome

Di George, syndrome or sequence

Dysostosis: acrofacial

François dyscephalia

Bird-like dyscephaly

Dysautonomia: familial

Dutch-Kentucky, syndrome

Duchenne, muscular dystrophy

Dubowitz, syndrome

Dubin-Johnson, syndrome

Dorfman-Chanarin, syndrome

Deficiency in C1 esterase

DIDMOAD, syndrome (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness)

Phospho-gluco-amino diabetes

Desbuquois, syndrome

Denys-Drash, syndrome

De Morsier, syndrome

Delleman-Oorthuys, syndrome

Deletion 13q

Dejerine-Sottas. syndrome

Spongy degeneration of the central nervous system

Hepato-lenticular degeneration

Deficiency (multiple) in acyl-CoA dehydrogenase

Spondylo-epiphyseal dysplasia (late)

Down, syndrome

Cerebral gigantism

Eosinophilic granuloma

Langerhans cells granulomatosis

Gorlin-Goltz, syndrome

Gorham-Stout, syndrome

Gorham, syndrome or disease

Deficiency in glucose-6-phosphate-dehydrogenase (G6PD)

Glanzmann, thrombasthenia

Takahara syndrome

Gilbert, disease or syndrome

Haddad, syndrome

Genée-Wiedemann, syndrome

Gamstorp-Wohlfart, syndrome

Galloway-Mowat, syndrome

Hemangioma-thrombopenia, syndrome

Micro, syndrome

Holoprosencephaly

Histiocytosis X

Langerhans cell histiocytosis

Hirschsprung, disease

Hers, disease

Hepato-cerebro-renal, syndrome

Henoch-Schönlein, disease or purpura

Hennekam, syndrome

Hemophilia

Lymphohistiocytic hemophagocytosis

Grisel, syndrome

Neonatal hemochromatosis

Guillain-Barré, syndrome

Kaposiform hemangio-endothelioma

Hecht-Beals, syndrome

Hecht, syndrome

Hashimoto-Pritzker, syndrome

HARD syndrome

Happy puppet syndrome

Hanhart, syndrome

Hand-Schüller-Christian, disease

Hamartoblastoma (hypothalamique) - polydactyly, syndrome

Hallervorden-Spatz, syndrome or disease

Hallermann-Streiff-Francois, syndrome

Freeman-Sheldon, syndrome

Hemolytic and uremic, syndromes

Dysplasia: osseous familial

Fryns, syndrome

Ehlers-Danlos, syndromes

EEC, syndrome

Edwards(1), syndrome

Eagle-Barrett, syndrome

Eagle, syndrome

Dystrophy: thoracic familial asphyxiating

Dystrophies: myotonic

Dystrophy: muscular with micropolygyria

Dystrophies: muscular congenital

Dystrophy: osteochondromuscular

Elephant man disease

Dysplasia: septo-optic

Ellis Van Creveld, syndrome

Dysplasia: olfacto-genital - Kallmann- De Morsier

Piebaldism

Opitz-trigonocephaly-like syndrome

Oberklaid-Danks syndrome

CMMR-D syndrome

BOS syndrome

Bohring-Opitz syndrome

Bohring syndrome

Alezzandrini syndrome

OMA syndrome

Dressler syndrome

Intrahepatic cholestasis: progressive familial

Dysplasia: right ventricular arrhythmogenic

Fanconi, syndrome or disease

Migraine, familial hemiplegic

Frasier, syndrome

Fraser, syndrome

Franceschetti-Klein, syndrome

Franceschetti, syndrome

Forbes, disease

Fifth digit syndrome

Periodic familial fevers

Pancreatic kystic fibrosis

Hyaline juvenile fibromatosis

Fibrodysplasia ossific progressive

Elastinolysis

Farber, disease

Friedreich, disease

Fanconi, anemia or pancytopenia

Falciform anemia

Fabry, disease

Whistling face syndrome

Escobar syndrome

Erythrodermia: ichtyosiform with leucocytes vacuolization

Epilepsy: myoclonic with ragged-red-fibers

Opsoclonic encephalopathy

Encephalomyopathy: necrotizing subacute

Emery-Dreifuss type 3, muscular dystrophy

Emery-Dreifuss, myopathy or muscular dystrophy

Elongation of the styloid process, syndrome

Feingold, syndrome

Pierson, syndrome

Cerebro-oculo-facio-skeletal, syndrome

Pena-Shokeir type 2, syndrome

Pena-Shokeir type 1, syndrome

Willebrand (von) disease

Ataxia-telangiectasia

Turner-Kieser syndrome

Berardinelli-Seip, syndrome

Osteo-onychodysplasia: hereditary

Nephrotic syndrome, congenital

Nephrosis

Finnish type nephrotic syndrome

Nephrotic syndrome, idiopathic

Hood, syndrome

Fong, disease

Nail-patella, syndrome

Afibrinogenemia: congenital

Autism

Chotzen, syndrome

Congenital central alveolar hypoventilation

Subcortical laminar heterotopia

Fructosemia: congenital

Galactosemia, congenital

Marshall, syndrome (2)

SMARD1 syndrome

Microdeletion 17p11.2

Smith-Magenis syndrome

Varadi-Papp syndrome

Asphyxia: traumatic

Perthes, syndrome

Joubert type A, syndrome

TPT-PS syndrome

COFS, syndrome

Triphalangeal thumb-polysyndactyly

Fetal akinesia sequence

Lissencephalies

Portopulmonary hypertension

Hepatopulmonary, syndrome

Aplasia and et dysplasia of the tibia with an intact fibula

Tibial hemimelia

Gollop-Wolfgang, syndrome

Lipodystrophy-acromegaloid gigantism, syndrome

Seip-Laurence syndrome

Seip syndrome

Diabetes: lipoatrophic

Berardinelli-Seip-Laurence, syndrome

Ataxia: spinocerebellar

Portosystemic shunt, congenital

Adams-Oliver, syndrome

alpha1-antitrypsine, deficiency in

Alexander, disease (1)

Alcoholic, embryofetopathy

Alcalosis: hypokaliemic - hypercalciuria

Albinism: oculo-cutaneous

Albers-Schönberg, disease

Adrenogenital, syndrome

Peroneal atrophy

Adenocutaneous, syndrome

Alport, syndrome

Acrocephalopolysyndactyly type V

Acrocephalosyndactyly type IV

Acrocephalosyndactyly type III

Acrocephalopolysyndactyly type II

Acrocephalosyndactyly type I

Propionic acidemia

Methylmalonic acidemia

Glutaric type II, acidemia or aciduria

Glutaric type I acidemia

Aciduria: dicarboxylic

Achondroplasia

Adiposogenital-pigmental retinitis, syndrome

Angioneurotic edema (familial)

Asherson, syndrome

Arthrogryposis

Arnold-Chiari, malformation

Aria, syndrome

Arhinencephaly

ARC, syndrome

Aplasia: cutis congenita

Apert, syndrome

Antley-Bixler, syndrome

Aniridia - Wilms tumor, syndrome

Angiomatosis: hemorrhagic familial

Allgrove, syndrome

Angiokeratoma corporis diffusum

Andersen-Tawil, syndrome

Andersen, disease

Analphalipoproteinemia

Analbuminemia: congenital

Amyotrophias: spinal

Amyoplasia: congenital

Amylo-pectinosis

Alström, syndrome

Morgagni, hernia

Angiomatosis: encephalotrigeminal

Batten, disease

BOR, syndrome

Blue Rubber Bleb Naevus, syndrome

Bloch-Sulzberger, syndrome

Bland-White-Garland, syndrome

Blackfan-Diamond, disease

Behçet, disease

Beckwith-Wiedemann, syndrome

Becker, disease

Becker-Kiener, syndrome

Becker, muscular dystrophy

Beare-Stevenson, syndrome

Deficiency in fructose-1-phosphate aldolase

BBB, syndrome

Breschet-Gorham-Stout, syndrome

Bartter (or Schwartz-Bartter), syndrome

Bardet-Biedl, syndrome

Barber-Say, syndrome

Bamforth, syndrome

Bannayan-Riley-Ruvalcaba, syndrome

Scimitar syndrome

Chondrodysplasia: calcific congenital

Chiari malformation

Steely hair disease: Menkes syndrome

Chemke-Oliver Mallek, syndrome

Chediak-Higashi, disease or syndrome

CHARGE, syndrome or association

Charcot-Marie-Tooth, disease

Lipofuschinosis: ceroid neuronal late infantile

Lipofuschinosis: ceroid neuronal

Cerebro-hepato-renal, syndrome

Central Core Disease

CDG syndrome

Cayler, cardiofacial syndrome

Bowen, syndrome

CATCH-22, syndrome

Branchio-otic, syndrome

Carpenter, syndrome

Caroli, disease

Carnitine palmitoyl-transférase, deficit in

Cantrell, pentalogy

Canavan-Van Bogaert-Bertrand, syndrome

Canavan, disease

Byler, disease or syndrome

Buckley, syndrome

Brunner-Winter, syndrome

Brugada, syndrome

Brevicollis congenital

Ceramidase, deficiency in

Cat eye syndrome

Aciduria: N-acetyl-aspartic

Charcot disease

Arthro-ophtalmopathy: hereditary progressive

Arthrogryposis: distal

Arménienne, maladie

Arachnodactyly: congenital

Amyotrophia: spinal, infantile

Amyotrophia: bulbospinal X-linked

Aminoaciduria: hyperdibasic type I

Aicardi-Goutières, syndrome

Acroosteolysis

Acrocephalosyndactylies

Ataxia by isolated deficiency in vitamin E

Acrocallosal syndrome: type Schinzel

Netherton, syndrome

Pilomatrixoma

Pilomatricoma

Malherbe calcified epithelioma

Watson syndrome

Moynahan, syndrome

May-Thurner, syndrome

3M, syndrome

Facio-digito-genital, syndrome

Dysplasia: faciogenital

Aarskog-Scott, syndrome

Aarskog, syndrome

Homocystinuria

Acrocephalopolysyndactylies

Dystrophy: thrombocytic hemorrhagic

Fructose intolerance

Caroli, syndrome

CAPS (1)

Porencephalies: autosomal dominant

HANAC syndrome

Erdheim-Chester, disease

Burn-Baraitser, syndrome

Burke, syndrome

Branchio-Oto-Renal, syndrome

Brachmann-de Lange, syndrome

Blau, syndrome

Aspartylglucosaminuria

Bickel-Fanconi, disease

Cerebro-oculo-renal, syndrome

Bernard Soulier, disease

IgA nephropathy

Berger, disease

Michelin baby, disease

Cutis gyrata, syndrome

Bazex-Dupré-Christol, syndrome

Baraitser-Burn, syndrome

Bannayan-Zonana, syndrome

Hypsarythmia

West syndrome

Bourneville, tuberous sclerosis or syndrome

ALCAPA

Biemond, syndrome

Palmoplantar keratodermia - periodontopathy

Neurofibromatosis type I

Nephronophthisis

Endocrine neoplasias, multiple, syndrome

Nemaline myopathy or nemaline rod myopathy

NARP, syndrome

Progeroid dwarfism

Osteodysplasic primordial dwarfism

Huntington, disease

Bannwarth, syndrome

Congenital ichthyosis type 4

Martsoft, syndrome

Hammam, syndrome

Giant axonal neuropathy

Bronchomalacia: congenital

Williams-Campbell syndrome

Papillon-Lefevre, syndrome

Haim-Munck, syndrome

Encephalitis with anti-NMDA receptor antibodies

Dyke-Davidoff-Masson, syndrome

Kaufman type, oculocerebrofacial syndrome

Ichthyosis-prematurity, syndrome

Phenylpyruvic oligophrenia

Malignant osteopetrosis

Osteogenesis imperfecta

Osler-Rendu-Weber, disease

Glass bone disease

Marble bone disease

Ornithine-carbamyl transferase, deficiency in

Opsoclonia-myoclonias, syndrome

Opitz-Frias, syndrome

Opitz, syndrome

Onychodysplasia, dwarfism

Ondine-Hirschsprung, syndrome

Neurofibromatosis type II

Ollier, disease

Neuromyotonia

Ohtahara, syndrome

Oculomandibulodyscephaly with hypotrichosis

Oculodigitoesophagoduodenal syndrome

Oculocerebrorenal syndrome

Oculo-cerebro-cutaneous, syndrome

Niemann-Pick, disease or syndrome

Neutropenias, congenital severe

HOS (acronym for Occiptal Horn Syndrome)

Ondine, syndrome or course

Aarskog-Ose-Pande, syndrome

Hennekam-Beemer, syndrome

Hydrocephalus-Agyria-Retinal Dysplasia

Low molecular weight proteinuria and nephrocalcinosis

Nephrolithiasis: X-linked

Rieger anomaly-partial lipodystrophy

HIDS (Hyperimmunoglobulinemia D syndrome)

SHORT syndrome

Dermatosparaxia

Schaltenbrand syndrome

Spontaneous or idiopathic intracranial hypotension

Deficiency in glutaryl-CoA dehydrogenase

Aciduria: glutaric type I

SAMS 1-31

Dysplasia: cerebro-facio-thoracic

Pascual-Castroviejo type 2, syndrome

Pascual-Castroviejo type 1, syndrome

Holt-Oram, syndrome

Dent, disease

Hypotonia-cystinuria, syndrome

Filaminopathies

Dystrophy: muscular hypertonic affecting native Canadians

Desmopathy

Deficiency (X-linked) in copper

Occipital horns, syndrome

Steely hair disease: Menkes syndrome

Bag3-pathy

ab-cristallinopathy

Myofibrillar myopathies

Rosenthal disease

Sensitive and autonomic hereditary neuropathies

Hermansky-Pudiak, syndrome

Jussieu, syndrome

Diaphragmatic hernia - omphalocele - corpus callosum agenesis, syndrome

Benign periodic hypothermia

Hypoproconvertinemia

Hypoglossia-hypodactyly syndrome

Hyperargininemia

Muscular hyperactivity, syndrome

Cutaneous hyalinosis

HSAN

Hormone Organification Defect Iib

Holzgreve-Wagner-Rehder

Holzgreve, syndrome

Hippel-Lindau, disease

Oxycephaly-acrocephaly

Panthotenate kinase-associated neurodegeneration

Schwartz-Bartter syndrome

Narcolepsy

Epilepsy: occipital of Panayiotopoulos

Epilepsy: nocturnal idiopathic

Panayiotopoulos, syndrome

Shprintzen velocardiofacial syndrome

Sheldon-Hall syndrome

SCAD (short-chain acyl-coenzymeA dehydrogenase deficiency)

Shapiro syndrome

Senior-Loken syndrome

Seckel syndrome

Blue sclera disease

Oto-palato-digital, syndrome

Schwartz-Jampel syndrome

Bronchia suis (pig bronchus)

Schwannomatosis of nerve VIII

Sanfilippo disease

Saethre-Chotzen syndrome

Russell-Silver syndrome

Rubinstein-Taybi syndrome

Histiocytic reticulosis

Linear scleroderma

Okihiro, syndrome

Glycerol-kinase, deficiency in

Parahemophilia

Owren, maladie d'

Factor V of Leiden

Factor V, constitutional deficiency in

Respiratory chain, pathologies of the

Mitochondrial cytopathies

Kleefstra, syndrome

Microdeletion 9q34.3

Malignant hyperthermia

Stilling Turk Duane syndrome

Reverse Marcus Gunn, phenomenon

Marcus Gunn, syndrome

Jaw-Winking, syndrome

Gluten intolerance

Heterotaxy syndrome

Duane Radial Ray syndrome

DRS (Duane Retraction Syndrome)

Duane, syndrome

Celiac, disease

Recklinghausen (von), disease

Duane retraction syndrome

Pearson, syndrome

Reticulogranulomatosis

Poland syndrome

Grey platelets syndrome

Pierre-Robin sequence

Adenomatous polyposis: familial

Pelizaeus-Merzbacher syndrome

Acute inflammatory polyradiculonevritis

Patau, syndrome

Parry Romberg, syndrome

Parkes-Weber, syndrome

Thyrotoxic hypokaliemic periodic paralysis

Periodic familial paralysis

Cardiodysrythmic periodic paralysis

Pallister-Killian, syndrome

Pallister-Hall, syndrome

Rautenstrauch-Wiedemann, syndrome

Articular stiffness: congenital

Long QT syndrome with deafness

Long QT syndrome, neonatal

Long QT syndrome, congenital

Puretic syndrome

Precocious puberty independent of gonadotropins in the girl

Popliteal pterygium syndrome

Pseudomyotonia

Pseudocholinesterase, deficiency in

Progressive infantile poliodystrophy

Proteus syndrome

Rendu-Osler disease

Protein S, deficiency

Protein C, deficiency

Mitral valve prolapse

Progeria

Progressive Familial IntraHepatic Cholestasis

Prader-Willi, syndrome

Short PR-normal QRS syndrome

Potter, syndrome

Post-anginous septic syndrome

Porphyrias

Porak et Durante, disease

Pompe, disease

Prune belly, syndrome

Louis-Bar, syndrome

Familial reticuloendotheliosis with eosiniphilia

Omenn, syndrome

Hyperkinetic, syndrome

Hyperactivity and attention deficit, syndrome

ADHD

SEIPA syndrome

Peters plus, syndrome

Leigh with maternal inheritance, syndrome

Lowe, syndrome

Adrenals congenital lipoid hyperplasia

Lobstein, disease

Lissencephaly type II

Lissencephaly type I

Lipogranulomatosis

Lipofuscinoses

Lignac-Fanconi, syndrome

Leucodystrophies

Leucinosis

Lesch-Nyhan, syndrome

LEOPARD, syndrome

Thrombophilia: hereditary due to a congenital deficiency in antithrombin 3

Lown-Ganong-Levine, syndrome

Neumann, tumor

Claude Bernard-Horner, syndrome

Nonne-Milroy, disease

Meige, disease

Lymphedema: congenital type I

Morning Glory, syndrome

Dysostosis: acrofacial or acrodental Weyer type

Minkowski-Chauffard, disease

Abernethy, malformation

Left superior vena cava, persistence of the

Senator syndrome

Lethal form of multiple pterygium syndrome

Non-lethal form of multiple pterygium syndrome

Facio-genito-popliteal, syndrome

Universal pterygium

Multiple pterygium syndrome

Leigh, disease or syndrome

Spherocytosis

Hypertension hyperkaliémique familiale

Jaeken, syndrome

Jadassohn, nevus

Jacobsen, syndrome

Isochromosome 12p with mosaicism, syndrome

Isaacs, syndrome

Congenital insensitivity to pain

Incontinentia pigmenti achromians

Incontinentia pigmenti

Ciliary immobility, syndrome

Dorfman-Chanarin ichthyosis

Hypospadias-dysphagia, syndrome

Lemierre, syndrome

Hypoglycosylation of glycoproteins

Jeune, syndrome or asphyxiating thoracic dystrophy

Lymphoid angiofollicular hyperplasia

Congenital adrenal hyperplasia

Hyperoxaluria primitive type I

Hyperglobulinemia E

Hyperexplexia

Hyperbilirubinemia Type 1

Systemic infantile hyalinosis

Hutchinson-Gilford, disease or syndrome

Hurler-Scheie, disease or syndrome

Hurler, disease or syndrome

Hunter, disease or syndrome

Ito, hypomelanosis of

Kinky hair syndrome

Leichtman-Wood-Rohn, syndrome

Laurence-Moon-Bardet-Biedl, syndrome

Landry-Guillain-Barré, syndrome

Larsen, syndrome

Krabbe, disease

Kugelberg-Welander, disease

Kostmann, syndrome or disease

Kok, disease

Klippel-Trénaunay-Weber, syndrome

Klippel-Feil, syndrome

Klinefelter, syndrome

Jansky-Bielschowsky, disease or amaurotic idiocy

Kinsbourne, syndrome

Jervell-Lange-Nielsen, syndrome

Kikuchi-Fujimoto, disease

Kelley-Seegmiller, syndrome

Kearns-Sayre, syndrome

Kawasaki, disease

Kasabach-Merritt, syndrome

Kartagener, syndrome

Kallmann-De Morsier, syndrome

Kabuki, syndrome

Joubert, syndrome and related

Johanson-Blizzard, syndrome

Job, syndrome

Botulism

Klein-Waardenburg, syndrome

Epidermic nevus, syndrome

Dysplasias: spondylo-metaphyseal

Erythromelalgia

Deficiency in aspartoacylase

Deficiency in aminoacylase 2

Konzo, disease

CLOVE(S) syndrome

Nanism with onychodysplasia

Microcephalic primordial dwarfism

Nanocephalic dwarfism

Bird-headed dwarfism

NAGS, deficiency in

MOMO syndrome

Osteohypertrophic varicose nevus

Cartilage-hair hypoplasia

Murray-Puretic-Drescher, syndrome de

Steinert myotony

Non-dystrophic myotonias

Dystrophic myotonia

Chondrodysplasic or chondrodystrophic myotonia

Congenital myotonias

Ossifying myositis: progressive

Duchenne of Boulogne myopathy

Rod myopathy

Central axis myopathy

Myokimia: continuous

Nager, syndrome

Adynamia: transient hereditary or Gamstorp's adynamia

Antithrombin 3 deficiency

Kelley-Seegmiller, syndrome

Deficiency in hypoxanthine-guanine-phosphoribosyltransferase grade IV

Deficiency (complete) in hypoxanthine-guanine-phosphoribosyltransferase

Clefts: facial

Tessier's facial clefts

Wolman disease

Dursun, syndrome

Westphall disease

Periodic paralysis type 3

Potassium sensitive periodic paralysis - cardiac dysrythmia

Cartilage-hair hypoplasia

Gamstorp, disease

Mounier-Kuhn, syndrome

RAPADILINO, syndrome

Alcaptonuria

Cancrum oris

Rothmund-Thomson syndrome

Noma

Dysplasia: spondylo-epiphyseal (late)

Tracheobronchomegaly

Factor XI, constitutional deficiency in

Dysplasia: anauxetic

Chondrodysplasia: metaphyseal (McKusick)

Chondrodysplasia: metaphyseal autosomic recessive

Muscle-eye-brain disease

Ochronosis: hereditary

Fitz-Hugh-Curtis, syndrome

Myodysplasia or myodystrophy: consitutional

McArdle, disease

Mastocytosis

Marshall-Smith, syndrome

Maroteaux-Lamy, disease

Marfan, syndrome or disease

Mannosidosis

Maffucci, syndrome

Histiocytic necrotizing lymphadenitis

Systemic lupus erythematosus: infantile

Pycnodysostosis

McCune-Albright syndrome

Paroxysmal nocturnal hemoglobinuria

McKusick-Kaufman, syndrome

PRES

Hyperglyceraturia

Hyperoxaluria primitive type III

Hyperoxaluria primitive type II

Hyperglycolaturia

Deficiency in monocarboxylate carrier 8

Deficiency in MCT8

Intellectual deficit (X-linked) - hypotonia

Allan-Herndon-Dudley, syndrome

Lambert-Eaton, syndrome

Botulism, infantile

Atypical Rett syndrome

Marchiafava-Micheli, disease

MILS

Samaritans myopathy

Multiple pterygium syndrome

Muckle-Wells syndrome

Mucopolysaccharidoses

Mucolipidoses

Moya-Moya, disease or syndrome

Miller-Fisher, syndrome

Miller-Dieker, syndrome

Miller, syndrome

Hemifacial microsomia

Microgyria-pachygyria, syndrome

Methemoglobinemias: congenital

MERRF syndrome

Menkes, syndrome

MEN, syndrome

Melnick-Fraser, syndrome

MELAS, syndrome

Megacolon: congenital

MODED, syndrome

Presenile dementia with osseous cysts

Congenital scalp defects with distal limb reduction anomalies

Macrocephaly-capillary malformation, syndrome

Atrioventricular block

Rapp-Hodgkin syndrome

Cheney, syndrome

Launois-Bensaude benign symmetric lipomatosis

Ectrodactyly - ectodermic dysplasia - cleft lip palate

Isaacs-Mertens, syndrome

Multicentric hereditary osteolysis

PLOSL

POTS

Zika virus infection

Al-Aqueel Sewairi, syndrome

Mulvihill-Smith, syndrome

Laryngomalacia

Benson, syndrome

Benson, disease

Charlevoix-Saguenay, spactic ataxia

Michel, aplasie de

CHAOS

Bowen, hutterite syndrome

Bowen-Conradi, syndrome

Buccopharyngeal membrane persistance

Maxilla fusion, congenital

Waugh syndrome

Dyschondrosteosis

Oropharyngeal atresia

Cephalothoracic lipodystrophy

PLEVA

Acuta lichenoides and varioliformis pityriasis

Mucha-Habermann, disease

SCID due to a deficiency in adenosine deaminase

DICS: by deficiency in artemis protein

DICS type athabascan

Pleonosteosis, Leri

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephaly

Megalencephaly with capillary malformation - polymicrogyria

Macrocephaly - cutis marmorata telangiectatica congenita

MCM, syndrome

Torg syndrome

Syngnathia

Distichiasis-lymphedema syndrome

Craniopharyngioma

Choanal atresia

Cerebellar ataxia - deafness - narcolepsy syndrome

Waldmann disease

Meyer-Schwickerath disease

Oculo-dento-digital syndrome or dysplasia

Propping-Zerres, syndrome de

Emberger syndrome

Intracranial hypotension

Aagenaes syndrome

Tolosa-Hunt syndrome

Horseshoe-shaped lung

Accessory diaphragm syndrome

Pulmonary sequestration

Tracheal obstructive fibrinous pseudomembranes

NAM

Amerindians myopathy

Adenomatoid disease of the lung

Hemoglobin Rothschild

Neonatal lupus

Unstable hemoglobins

Methylmalonic acidemia with homocystinuria

Torg-Winchester syndrome

POTS

Primary osteolysis, syndromes

Multicentric carpotarsal multicentric osteolysis

Lipomembranous osteodystrophy with leucoencephalitis

Osteodystrophy, familial expansive

MONA

Limb-Mammary, syndrome

JS-X, syndrome

Dysplasia: mandibulo-acral

Alzheimer: familial disease

Syringomyelia

Paget-Schroetter, syndrome

HDL syndrome

Dystonia: hereditary progressive with diurnal fluctuations

Dystoniea: dopa-sensible

Parkinson:disease, infantile

Segawa syndrome

Arterio-portal congenital fistula

Oncogenic osteomalacia

Nasal mucocele: congenital

ADULT syndrome

Progressive arterial occlusion - arterial hypertension - cardic malformation - bone fragility - brachysyndactyly, syndrome

Urban-Roger-Meyer syndrome

Snyder-Robinson syndrome

ABS

ADAM

Short stature-facial and skeletal anomalies-intellectual deficit-macrodontia, syndrome

Deletion 2p32.1-24.1

Deficiency in proopiomelanocortine

Obesity due to proopiomelanocortine deficiency

Hereditary neuropathy with liability to pressure palsies

KBG syndrome

Rodriguez acrofacial dysostosis

Atrophy: cortical posterior

Pili trianguli et cornaliculi

Prader-Willi habitus-osteopenia-camptodactyly, syndrome

Grange arterial occlusion syndrome

Giant hypertrophic gastropathy

Menetrier disease

Laparoschisis

Gastroschisis (laparoschisis)

Grange syndrome

Cowchock syndrome

Uncombable hair syndrome

Oculopalatoskeletal syndrome

Gowers disease

Distal type 1 myopathy

Acrofacial dysostosis, Rodriguez type

BMRS Verloes type

Digitotalar dysmorphism

Blepharophimosis Ohdo type

Adenoendocrinosis

Say-Barber-Biesecker-Young-Simpson syndrome

Absent patellae-hypoplasic scrotum-renal anomalies-facial dysmorphy-intellectual deficit syndrome

X-linked Ohdo syndrome

Maat-Kievit-Brunner syndrome

Ohdo syndrome

Genitopatellar syndrome

Malabsorptive congenital diarrhea by dysgenesis of enteroendocrine cells

Chronic diarrhea by hyperactivity of guanylate cyclase 2C

Intellectual deficit-short stature-hands contractures-genital anomalies, syndrome

Distal 3p deletion

X-linked fixed epileptogenic encephalopathy

BMRS deletion 3p type

BMRS classification

SBBYS

Prieur-Griscelli syndrome

Congenital myopathy with disproportion of the fiber types

Amelocerebrohypohydrotic syndrome

Kohlschütter-Tönz syndrome

Mohr syndrome

Pyridoxine-dependent convulsions

COMMAD

CAKUT

Michels syndrome

Congenital diarrhea with exsudative enteropathy

SMMCI

Type 1 distal myopathy

KWWH type I

Palmoplantar hyperkeratosis - arhthmogenic cardiomyopathy, syndrome

Wolly hair - palmoplantar hyperkeratosis - dilated cardiomyopathy, syndrome

Short QT syndrome, familial

Carvajal, syndrome

Dwarfism: Levi type

Bloom -Torre - Mackacek, syndrome

Bloom, syndrome

Galen, vein of, aneurysm

Congenital fascial dystrophy

Spinocerebellar ataxia, infantile type 8

Solitary median maxillary central incisor

LGMD

Lujan-Fryns, syndrome

Ethylmalonic encephalopathy

Amniotic bands

Cervical cleft, medial, congenital

Lobar emphysema (congenital)

Pharyngo-cervico-brachial, syndrome

Trisomy 10qter

Leathery skin, syndrome

Neuroacanthocytosis

Lacrymonasal cyst, congenital

Felson venolobar syndrome

Yellow nails syndrome

Tethered cord syndrome

Chylothorax

Sheehan syndrome

SHARP syndrome

Hereditary pyropoikilocytosis

Pyropoïkilocytosis (hereditary)

Stomatocytosis

Lutheran null phenotype

KWWH type II

Nicolaides-Baraitser syndrome

Levine-Critchey syndrome

Mirror movements, congenital familial

SFCI

SFC

Capillary hypermeability, syndrome

Clarkson, disease

Hemoglobin Kirksey

Systemic capillary leak syndrome

IOSCA

South-east Asia ovalocytosis

ACPS

Caudal regression syndrome

Sacral agenesis syndrome

Diabetes-hypogonadism-deafness-intellectual deficit, syndrome

Woodhouse-Sakati syndrome

Spitzer-Weinstein syndrome

Chloride shunting syndrome

Arthrogryposis: distal type IIA or 3

Microcephalies

Sakati-Nyhan-Tisdale syndrome

Dicarboxylic aciduria

Autonomous hyperthyroidism with low TSH level

PEHO syndrome

Nasopalpebral lipoma-coloboma syndrome

Auriculotemporal syndrome

Frey syndrome

Nephroblastoma - fetal ascitis - tumor syndrome

WARNING

Stuart ou Stuart-Prower, syndrome

Deficiency in pyrimidine 5' nucleotidase

Camptodactyly-club foot-cleft syndrome

Sprengel deformity

Hemoglobin Casper

Hemoglobin Southampton

Metatropic dysplasia

Citrullinemia type 2

Citrullinemia type 1

Bloch-Siemens syndrome

Aase-Smith type II

Aase syndrome

Diamond-Blackfan syndrome

Congenital upward displacement of the scapula

High scapula

Hypophosphatasia

Triosephosphate isomerase deficiency

Meier-Gorlin syndrome

Granulomatous infantile arthritis

Morning glory disc anomaly

Cerebello-retinal angiomatosis, familial

Rathurn disease

Phosphoethanolaminuria

Microtia-skeletal anomalies-short stature syndrome

Primary autosomal recessive microcephaly

Factor X, constitutional deficiency in

TPI deficiency

Thrombocytopenias, familial, isolated

Stiff man, syndrome

Hemoglobin FM-Osaka

Deletion 13q14

Hip osteochondritis: primitive infantile

Diastrophic dysplasia

MSUD

Branched-chain ketoaciduria

Congenital contralateral isolated synkinesis

Congenital contralateral familial synkinesis

SNEL

Mirror movements, congenital isolated

Factor Stuart or Stuart-Prower, congenital deficiency in

Paris-Trousseau thrombocytopenia

Glossopalatine ankylosis

Sitosterolemia

CAMT

Congenital amegakaryocytic thrombocytopenia and radioulnar synostosis

Amegakaryocytic thrombocytopenia

York syndrome

Oculootoradial syndrome

Tubular aggregate myopathy

Lesti-Hollister-Rimoin syndrome

Floating Harbor syndrome

Curry-Jones syndrome

CIPO

Intracranial hypertension, idiopathic

Pseudotumor cerebri

Epilepsy with occipital paroxysms

Moersch et Woltman, syndrome

Oriental sore

Ankyloglossia (superior), syndrome

Vogt-Koyanagi-Harada disease

Leishmaniasis

BPES syndrome

Deficiency in molybdenum cofactor

Peri-radicular cyst

Extradural arachnoid cyst

Jodasshon-Lewandowsky, syndrome

Jackson-Lawler, syndrome

Pachyonychia congenita

Inclusion body myositis

Neurodegeneration associated to phospholipase A2

LAPS syndrome

Heteropagus

Infantile neuroaxonal dystrophy

Short rib - polydactyly type IV

Beemer-Langer syndrome

Steel syndrome

Hyperglycerolemia

Glycogenosis type VII

NICCD

Fructosuria, essential

Dystonia type 12

Corpus callosum, agenesis of

Tracheal agenesis

ARCL3

Alpha-galactosidase deficiency

Anderson-Fabry disease

Al Gazali-Bakalinova syndrome

Dissecting osteochondritis: autosomal dominant

Macrocephaly with multiple epiphyseal dysplasia and peculiar features

Primary hypersomnia

Idiopathic hypersomnia

Dysplasia: spondyloepiphyseal type Kimberley

Glycogen storage diseases

SOPH syndrome

Distal duplication 10q

Familial spastic paraplegia

MEHMO

Spondyloepiphyseal dysplasia: congenital

Flexures reticular pigment anomaly

Dowling-Degos disease

Deficiency in pyruvate-kinase

Siamese twins

Deficiency in ATP synthase

Urethral duplication

Short stature - optic nerve atrophy - Pelger-Huet anomaly

NSIAD

Nephrogenic syndrome of inappropriate antidiuresis

Megalourethra

Megaurethra

Tumor lysis syndrome

Acute infantile liver failure associated with fever, syndrome of

Hemoglobin Bibba

Hartfield-Bixler-Demyer syndrome

Hartsfield syndrome

Dystonia-fast onset parkinsonism

Aggrecanopathies

Isolated deficiency in ATP synthase

Arterial tortuosity syndrome

Spondyloepimetaphyseal dysplasias

Cerebral reversible vasoconstriction syndrome

Congenital intractable diarrhea with epithelial anomalies

Microvillous atrophy, congenital

Davidson disease

Syndromic diarrhea

Trichohepatoenteric syndrome

Microvillus inclusion disease

Tufting enteropathy

Intestinal epithelial dysplasia

Secretory sodium diarrhea, congenital

Exstrophy

DIAR

Diabetes mellitus: congenital neonatal

NAFLD

NASH

Benign intrahepatic cholestasis

UDA

Spinal juvenile osteochondrosis

Juvenile kyphosis

Scheuermann disease

Whooping cough

Windmill-Vane-Hard syndrome

Stiff person syndrome

Cranio-carpo-tarsal syndrome

Bickers-Adams syndrome

Secretory chloride diarrhea, congenital

Anophthalmia-microphthalmia linked to SOX2 gene

Mulibrey nanism

Hip transient synovitis

Transient synovitis of the hip

Retinoblastoma

Peters anomaly or syndrome

Growth osteochondrosis

Bladder exstrophy and its different forms

Buphthalmos

Congenital neonatal diabetes

Anophthalmia-microphthalmia

Aposthia

Neill-Dingwall syndrome

Akinetic mutism

Cerebellar mutism

IBD

Lysosomila acid lipase A deficiency

Acid lysosomial lipase A deficiency

Priapism

NDH syndrome

IPEX

Diabetes mellitus: congenital neonatal with hypothyroidism

Congenital glaucoma

Disseminated lenticular dermatofibrosis

Naso-digito-acoustic syndrome

Keipert, syndrome

Dysosteosclerosis

CAMS

Bonnet-Dechaume-Blanc syndrome

Retino-encephalo-facial angiomatosis

Carotid artery agenesis

Wyburn-Mason syndrome

Hemoglobin Kansas

Ring-14 chromosome syndrome

Perisylvian syndrome, bilateral, congenital

Glass syndrome

COFG, syndrome

Metaphyseal dysplasia: familial

Van den Berghe-Dequeker syndrome

Busche-Ollendorf, syndrome

Osteopoikilosis

Neutropenia, chronic benign familial

Neutropenia, benign chronic infantile

Chronic infantile neutropenia

Melorheostosis

Ubiquitous glucose-6-phosphatase deficiency

Ulnar aplasia - split foot syndrome

Platypnea - orthodeoxia, syndrome

Xia-Gibbs syndrome

Finlay-Marks, syndrome

MASS syndrome

GNAO1 encephalopathy

Epileptic encephalopathy with "bursts-suppression"; early infantile

5-oxoprolinase, deficiency

Brauer-Setleis syndrome

Focal Facial Dermal Dysplasia

TARP syndrome

OCTD

Okamoto syndrome

G20210/A mutation of the prothrombin gene

Pyle syndrome

Marfan, neonatal syndrome

Neonatal marfan syndrome

Factor II of Leiden, mutation

Woakes syndrome

Sprinz-Nelson syndrome

Hyperbilirubinemia type 2

Oculopharyngeal muscular dystrophy

Dubin-Sprinz syndrome

Epidermolysis bullosa junctionalis with pyloric atresia

Carmi syndrome

Limb-Girdle Dystrophies

Congenital dyskeratosis

Leiden factor V

Low phospholipid-associated cholelithiasis

Orofacial impalement

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Multisystemic atrophy

Alice in Wonderland syndrome

Telomeropathies

PARK

Childhood migraine

Migraine in children and adolescents

Jael syndrome

Cystic fibrosis

Early-onset parkinson disease

Deletion 2q32-33

DYT5

Riboflavine (vitamine B2) carrier deficiency

Distal myopathy with rimmed vacuoles

Inclusion body type 2 myopathy

Hereditary inclusion body myopathy type 2

GNE myopathy

Nonaka myopathy

LPAC syndrome

Intellectual deficit - obstructive sleep apnea - mild dysmorphism associated to AHDC, syndrome

Spinal infantile amyotrophia

Spinal amyotrophias

Congenital myopathies

Blepharophimosis-intellectual deficit: Ohdo type syndrome

Morbihan syndrome

Glycerol-kinase, complex deficiency in

Ciliary dyskinesia: primitive

Mandibulo-facial François type dysmorphism

Acrofacial dysostosis

Acrofacial or acrodental Weyer type dysostosis

Acrofacial post-axial dysostois

Cleidocranial dysostosis

Hackmann-Di Donato syndrome

FGS

Methylene-tetrahydrofolate reductase, deficiency in

Hyperhomocysteinemia

Biermer anemia

Focal epilepsy: familial, with variable foci

OCT, deficiency in

Fazio-Londe disease

Tetra-amelia-multiple anomalies, syndrome

Schinzel phocomelia

Zimmer phocomelia

Familial angioneurotic edema

Todd syndrome

Deafness-cataract-skeletal anomalies, syndrome

Shy-Drager syndrome

Perry syndrome

Parkinson Plus

Bulbar paralysis: progressive, childhood

Nathalie syndrome

Androgen insensitivity syndrome

Vitamin B12 deficiency

Thiamine, deficiency in

Oromandibular-shortening of the limbs syndrome

Cosack syndrome

Acromelia-oligodontia

Pyroglutamic aciduria

N-acetyl-aspartic aciduria

Mevalonic aciduria

Alpha-methylaceto-acetic aciduria

3-methylglutaconic, acidurias

3-hydroxy-3-methylglutaric aciduria

Vitamin B1, deficiency in

Carnitine carrier, deficiency in

Epispadias

Thymidine phosphorylase, deficiency in

Saul-Wilson dwarfism

T2, deficiency in

Sulfide oxidase, deficiency in

Pyruvate-kinase, deficiency in

Pyrimidine 5' nucleotidase, deficiency in

Proopiomelanocortine, deficiency in

Phosphorylase b-kinase, deficiency in

Phosphoglycerate mutase 2, deficiency in

Phosphoglycerate kinase, deficiency in

Phosphoglucomutase 1, deficiency in

Mitochondrial acetyl-CoA thiolase, deficiency in

MCT8, deficiency in

Monocarboxylate carrier 8, deficiency in

Carbonic anhydrase II, deficiency in

Thoracoabdominal syndrome

Pulmonary stenosis-brachytelephalangia-cartilage calcification, syndrome

Osteopetrosis: autosomal recessive type III with renal tubular acidosis

Osteopetrosis: secondary hypertrophic with pernio

OPBT

Osteopetroses; autosomal recessive

Amyotrophy-fat tissue anomaly syndrome

Nakajo-Nishimura syndrome

Keutel syndrome

Guibauld-Vainsel syndrome

Acheiropodia

CA-VA, deficiency in

Buttiens-Fryns syndrome

TRALI

Pectus arcuatum

PBFC

Lipodystrophy: generalized, congenital

FHUFS

Femorofacial syndrome

Os odontoideum

OEIS, complex

Laryngeal duplication

Solamen, syndrome

PHTS, group

Retinocytoma

Encephalopathy with hyperammonemia by carbonic anhydrase VA deficiency

Harel-Yoon syndrome

Hydroxy-methylglutarylCoA lyase, deficiency in

Exostoses: multiple

Cataract-microphthalmia-radiculomegaly-cardiac septal defect, syndrome

OCFD syndrome

Oculo-cardio-facio-dental syndrome

Lenz-Majewski nanism

MOPD type II

Microphthalmia: syndromic type 2

Lenz microphthalmia

Majewski syndrome (2)

Liberfarb syndrome

Autosomal dominant intellectual deficit-craniofacial anomalies-hypotonia-cardiopathy

Lenz syndrome

Acromicric dysplasia

Unroofed coronary sinus

WDHA

Verner-Morrison syndrome

VIPoma

Femininzing testicle

Pseudohermaphrodism XY

Reifenstein syndrome

Proud-Levine-Carpenter, syndrome

Microcephaly-agenesis of the corpus callosum- genital abnormalities, syndrome

Proud syndrome

NEDIM

Sedlackova syndrome

Lenz-Majewski syndrome

Meckel's diverticulum

Hypospadias

Chitayat syndrome

Quebec platelet disorder

Paraesophageal hernia

Diaphragmatic hernia, congenital

Congenital diaphragmatic hernia

CRS

Cytokine Release Syndrome

Bonnevie-Ullrich syndrome

Monosomy X

Pemphigus

KAT6A syndrome

Linear atrophoderma of Moulin

Hepatic glycogen synthase, deficiency in

Moulin, linear atrophoderma

Middle aortic syndrome

Descending aorta coarctation

Gentile, syndrome

Amaurosis

Hyperphenylalaninemic embryopathy

Phenylketonuria, maternal

Maternal phenylketonuria, syndrome

Dwarfism with stiff joints and ocular abnormalities

Spanger geleophysic dwarfism

Moore-Federman syndrome

Geleophysic dysplasia

Iniencephaly

Tosti syndrome

Sacrococcygeal teratoma

Ptosis-iridic coloboma-intellectual deficit, syndrome

CMS (chronic mountain sickness)

Chronic mountain sickness

High altitudes polycythemia

Andes mountains sickness

Monge disease

MLASA

Lumbo-costo-vertebral syndrome

Fryns-Aftimos syndrome

Cerebro-fronto-facial type 3 syndrome

Lipoprotein lipase, deficiency in

Frantz tumor

Hand-Foot-Genital syndrome

Teebi hypertelorism

Brachy-cephalo-fronto-nasal dysplasia

Teebi syndrome

Noonan-like syndrome

Mazzanti syndrome

Noonan syndrome-like disorder with loose anagen hair

Cephalopolysyndactyly

Greig syndrome

Mandibulo-palpebro-ptosis synkinesis

Congenital facial synkinesies

Visceral myopathy: congenital

Baraitser-Winter syndrome

Acanthocytosis

Wiedemann-Steiner syndrome

Hypophyseal dwarfism type 2

Globoid cells leucodystrophy

DOOR syndrome

Nutcracker syndrome

Neurolipomatosis

Lipomatosis, symmetric, painful

Lipedema

Dercum, disease

Ladd, bands

Neuroleptic Malignant syndrome

Craniostenoses

Chorea-acanthocytosis

Verloes-Van Maldergem-de Marneffe syndrome

Cerebro-facio-articular syndrome

Van Maldergem syndromes

Tatton-Brown-Rahman syndrome

Smith-Kingsmore syndrome

Nance-Horan syndrome

Microspherakia-metaphyseal dysplasia

Deficiency in lipoprotein lipase

Gerbode's anomaly

Blood group H

CACH syndrome

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type I

Ataxia with pigmentary retinopathy

Spinocerebellar ataxias

Marden-Walker-like syndrome

Hyperiminodipeptiduria

Von Recklinghausen disease

Van den Ende-Gupta syndrome

Deficiency in prolidase

Prolidase, deficiency in

Hemoglobin Titusville

Hemoglobin hh

Kagami-Ogata syndrome

Hemoglobin Bombay

Chudley-Mc Cullough syndrome

Intestinal polyps-spots syndrome

Peutz-Jeghers syndrome

Otocephaly

Cerebroretineal microangiopathy with calcifications and cerebral cysts

Hydrocephalus: X-linked with stenosis of aqueduc of Sylvius

HSAS

Bullous epidermolyses

CRMCC

Coats plus disease

Hemoglobin para-Bombay

EA1

Camp(t)omelic dwarfism

Camp(t)pomelic acampomelic dysplasia

Camp(t)omelic dysplasia

Boylan-Dew-Greco syndrome

Areflexic dystasia: hereditary

Koussef-Nichols syndrome

Congenital hypomyelinizing neuropathy

LCCS

Achalasia

Congenital muscular dystrophies

Muscle dystrophies: congenital

Congenital cataract-facial dysmorphy-neuropathy

EA2

Congenital lobar emphysema

Familial paroxysmal ataxia with myokymia

Episodic ataxias: other types

Episodic ataxia type 2

Episodic ataxia type 1

Episodic ataxia, familial

Infantile ataxia with diffuse central nervous system hypomyelinisation

Spinocerebellar ataxia type 3

Central diffuse myelinosis

SCA3

VWM syndrome

Machado-Joseph disease

Meningocele

Charlie M syndrome

Osseous osteosclerotic dysplasia: lethal

Ectodermic - anhidrotic dysplasia

Ectodermic type 3 dysplasia

Faciogenital dyplasia

Frontometaphyseal dyplasia

Frontonasal dysplasia

Immuno-osseous - Schimke dysplasia

Mandibulo-acral dyplasia

Maxillo-nasal dysplasia

Metatropic type II dysplasia

Oculo-auriculo-vertebral dyplasia

Oculo-skeletal dysplasia

Freeman-Burian syndrome

Osseous familial dysplaia

Dermic-cerebellotrigeminal dyplasia

Pseudometatropic dysplasia

Renal multicystic dysplasia

Septo-optic dysplasia

Spondylocostal dysplasia

Spondyloepiphyseal dysplasia with nephrotic syndrome

Spondylometaphyseal dysplasias

Spondyloepiphyseal type Kimberley dysplasia

Spondylothoracic dysplasia

Right ventricular arhythmogenic dysplasia

Spinal dyraphisms

Vesico-sphincteral dyssynergy: functional

Olfacto-genital - Kallmann - De Morsier dysplasia

Acromandibular dysplasia

Monosomy 22q11

Conotruncal and facial anomalies, syndrome

JMP

Cardiac ectopia

Neutrophilic chronic atypical dermatosis - lipodystrophy - fever, syndrpome

Joint contractures, Muscle atrophy, microcytic anemia and Panniculitis-induced lipodystrophy

CANDLE syndrome

Autoinflammatory syndromes linked to proteasomes

Craniofacial dysostosis

Mandibulofacial dysostosis, Guion Almeida type

Microcephaly syndrome

Dolichospondylitic dysplasia

Acro-dento-oseous dysplasia

Diaphyseal progressive dysplasia

Acromesomelic type Grebe dysplasia

Acromesomelic type Maroteaux dysplasia

Acromesomelic type Hunter-Thompson dysplasia

Anauxetic dysplasia

Arterio-hepatic dysplasia

Atrio-digital type 1 dysplasia

Caudal dysplasia

Cerebro-facio-thoracic dysplasia

Chondroectodermic dysplasia

Cranio-cerebello-cardiac dysplasia

Cranio-ectodermic dysplasia

Fast-onset parkinsonism - dystonia

Mandibulofacial dysostosis

Schaaf-Yang syndrome

Dopa-sensible dystonia

Bradydactyly-elbows and wrists dyplasia, syndrome

Liebenberg syndrome

Congenital galactosemia

Aceruloplasminemia

Robinow-Sorauf syndrome

Diaphano-spondylo-dysostosis

Antopol disease

Atypical cholinesterases

Smooth muscle dysfunction syndrome

Hereditary hyperexplexia

DICER1, syndrome

Stalker-Chitayat syndrome

Gilles de la Tourette syndrome

Spina bifida

Oculocerebrofacial, Kaufman type syndrome

Myelomeningocele

CAPOS syndrome

Doubled-chambered right ventricle

Muscular dytrophy with micropolygyria

Muscular congenital dystrophies

Muscular facio-scapulo-humeral type dystrophy

Muscular hypertonic dystrophy: affecting native Canadians

Muscular oculopharyngeal dystrophy

Myotonic dystrophies

Osteochondromuscular dystrophy

Thanatophoric dystrophy

Pleuropulmonary blastoma

Amsterdam dawarfism

Hereditary progressive dystonia with diurnal fluctuations

Bushy, syndrome

Inferior vena cava , congenital anomalies of the

Inferior vena cava, agenesis

Ferroportine, disease

Duncan, disease

XLP

PPB familial tumor and dysplasia syndrome

Bantu siderosis

Purtilo syndrome

Macrocephaly-intellectual deficit-autism, syndrome

Hemochromatosis

Hereditary hemochromatoses

Eosinophilic pneumopathy: chronic idiopathic

Extraocular muscles congenital fibrosis

Distal myopathies

Foramen ovale

Patent foramen ovale

Congenital paramyotonia

Tibial muscular dystrophy

AHEI

Acute hemorrhagic edema of infancy

Juvenile xanthogranuloma or xanthogranulomatosis

Non-Langerhans histiocytosis

Xanthogranulomatosis or juvenile xanthogranuloma

CAH-X syndrome

Plantar lipomatosis - facial dysmorphism - developmental delay, syndrome

FXTAS

MORM syndrome

RIME

Neuro-ocular, linked to DAGLA, syndrome

Patent ductus arteriosus - facial dysmorphism - fifth finger abnormalities, syndrome

Neuronal intranuclear inclusions, disease

Dilated cardiomyopathy - hypergonadotrophic hypogonadism, syndrome

Cardiogenital syndrome

Megacolon-microcephaly syndrome

Monosomy 21

S-adenosylhomocysteine hydrolase deficiency

Sneddon syndrome

Adenosine deaminase 2 deficiency

doi: 10.4103/0970-1591.70592

Zinner syndrome

Laryngeal cysts

Bow Hunter syndrome

Gabriele-de Vries syndrome

Aldehyde dehydrogenase 1, Family Member A2, associated anomalies

Congenital myopathy with tremor

Deletion 18 p

Lethal congenital contractures syndrome

Ectodermic dysplasias

Goldberg-Shprintzen syndrome

Pulmonary bronchodysplasia

Mirhosseini-Holmes-Watson syndrome

Neonatal lethal spasticity - epileptiform encephalopathy

Knobloch-Layer syndrome

Mitchell-Riley syndrome

Martinez-Frias, syndrome

CIPA

OCA

Thanatophoric dwarfism

Ocular albinism

Lacrimal and salivary glands aplasia

Achondrogenesis

Pericardial agenesis

Retinoma

Congenital dyserythropoietic anemia

Hypereosinophilic syndrome

SMA-LED

Eosinophilic granulomatosis with plolyangeitis

Dystrophy, thanatophoric

Dyserythropoietic anemia: congenital

Laryngeal dysfunction, episodic

Jeavons syndrome

Andy Gump syndrome

Brachial plexus neonatal paralysis

Schwannomatosis

Oto-facio-cervical syndrome

Neurofibromatosis type III

Primary central apnea, syndrome

MTDPS

Ice axe foot

Navajo neurohepatopathy

Clubfoot

EVR

Spondyloepiphyseal dysplasia - retinal dystrophy - immune deficit, syndrome

Criswick-Schepens syndrome

Exsudative vitreoretinopathy: familial

Roifman syndrome

Short stature - skeletal dysplasia - retinal degenerescence - intellectual deficit - neurosensory deafness, syndrome

Persistent primary vitreous

Urogenital sinus

Persistent cloaca

Anorectal malformations

Desmogleine proximal 18q gene deletion

Central apnea, primary, syndrome

Microdeletion 22q11.2

Cerebrotendinous xanthomatosis

Rasmussen, syndrome

Dysplasia: dermic cerebellotrigeminal

Gomez-Lopez-Hernandez, syndrome

Tricho-rhino-phalangeal syndrome

Langer-Giedion, syndrome

Cantrell, pentalogy

Kunze-Riehm, syndrome

Michelin tyre baby, syndrome

Epilepsy: infantile myoclonic severe

Dysplasia: spondylothoracic

Dysplasia: spondylocostal

Jarcho-Levin, syndrome

Senior-Boichis syndrome

Rosai-Dorfman disease

Leber optic neuropathic, herediatry

Nephronophthisis familial juvénile

Loken-Senior, syndrome

Leber: congenital amaurosis (LCA)

Crisponi, syndrome

Kleine-Levin, syndrome

Trisomy 8

Dysplasia: diaphyseal progressive

Myxoma, atrial

Erb, myopathy

Dystrophies of the girdles

LUMBAR syndrome

SC-phocomelia syndrome

Landau-Kleffner, syndrome

Aphasia: acquired during infancy with epilepsy

SC syndrome

Roberts syndrome

Klippel-Trenaunay, syndrome

De Barsy, syndrome

Beals, syndrome

Myasthenias: congenital

Beals-Hecht, syndrome

Camurati-Engelmann, syndrome

Asperger, syndrome

Dysplasia: pseudometatropic

Dysplasia: metatropic type II

Dysplasia: Kniest

Swiss Cheese cartilage syndrome

Kniest, syndrome

Shprintzen-Goldberg syndrome

Dutch-Kentucky, syndrome

Loeys-Dietz, syndrome

Furlong, syndrome

Barbeau, disease

Hyperglycinemia, non-ketotic

Deletion 6q

Dystrophy: oculopharyngeal muscular

Deficiency in hydroxy-methylglutarylCoA lyase

Coats, disease

Bestrophinopathies

Wagner vitroretinal degeneration

Wagner syndrome

Vitreoretinal choroidopathy, autosomal dominant

Vitreoretinal dysplasias

Aminoaciduria: hyperdibasic type II

Chromosome 18q, distal deletion

Chromosome 18p, proximal deletion

Aymé-Gripp syndrome

White-Sutton syndrome

Hyperlipoproteinemia type 1

Burger-Grutz type hyperlipemia

Folates intracerebral transport deficit

Familial chylomicronemia

Collagenous gastritis

AMOTL1 gene mutations

BRIC

Myopathy, congenital, with tremor

Actinopathies

Donnai-Barrow, syndrome

Congenital long QT syndrome

Angiitis: allergic granulomatous

Melnick-Needles, syndrome

Long-chain 3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)

Frank-Ter Haar, syndrome

Ricker syndrome

Proximal Myotonic Myopathy

Malpuech, syndrome

Native Americans myopathy (NAM)

GAPO, syndrome

FOAR syndrome

Ismerlund-Gräsbeck, disease

Facio-oculo-acoustico-renal syndrome

Churg-Strauss, syndrome

Ochoa, syndrome

Guanidinoacetate methyltransferase, deficiency in

COACH, syndrome

Ullrich myopathy

Hauptmann-Tannhauser, muscular dystrophy

Cor triatriatum

Bethlem, myopathy

Alexander, disease (2)

Ogilvie, syndrome

POIC

Chronic intestinal pseudoobstruction (CIPO)

Lysinuric protein intolerance

Filippi, syndrome

Congenital venopulmonary syndrome

Sandhoff disease

Samter triad

Pseudo-Morquio type 1, disease

DMC, syndrome

Dyggve-Melchior-Clausen, syndrome

Pseudo-Hurler, syndrome

Landing, syndrome

Cortical infantile hyperostosis

Gangliosidosis GM1

de Toni-Caffey, disease

Caffey-Silverman, syndrome

Mast cell activation syndrome

Zinsser-Cole-Egmann syndrome

Gigantism

Revesz syndrome

Hoyeraal-Hreidarsson, syndrome

Halasz, syndrome

Dyskeratosis: congenital

Pulmonary hypertension

Jaffe-Campanacci syndrome

Malignant atrophying papulosis

Caffey, disease

Feingold 2, syndrome

Myhre syndrome

Osteodysplastic gerodermia

Cutis laxa autosomic recessive type Debré

ARCL2

ARCL1

Perrault, syndrome

Dysplasia: spondylo-epiphyseal congenital

Roger disease

Pseudoachondroplasia

Pierre-Robin-hyperphalangia-clinodactyly

Palato-digital type Catel-Manzke, syndrome

Smith-McCort dysplasia or syndrome

Microdeletion chromosome 10

Cramer-Niederdellmann, syndrome

Dysplasias: spondylo-epi-metaphyseal

Deletion 10pter

Catel-Manzke, syndrome

Dystrophies: muscular

Phelan-McDermid, syndrome

Monosomy 1p36

Deletion 22q13

Deletion 1p36

Golabi-Rosen, syndrome

Proteus syndrome

Nevo, syndrome

Carbamyl phosphate synthetase II deficiency

Monosomy 10 p

Ductus arteriosus, premature (fetal) closure

Thiamine pyrophosphokinase, deficiency in

Thiamine Metabolism Dysfunction

Median arcuate ligament syndrome

Metabolic encephalopathy - arhythmia associated with TANGO2, syndrome

Metabolic encephalomyopathic recurrent crisis - rhabdomyolysis - arrhythmias - intellectual deficit, syndrome

Alpha-tryptasemia: hereditary

Masson tumor

Megaloblastic anemia responding to thiamine

Median artery: forearm

Forearm median artery

Papillary endothelial endovascular hyperplasia

Restrictive cardiomyopathies

Urea cycle disorders

Carbamyl phosphate synthetase I deficiency

Bronchopulmonary foregut malformations

Tracheal diverticulum

SADDAN syndrome

Ichthyosis: congenital

Hypochondroplasia

Microgastria, congenital

NIID syndrome

KINSSHIP syndrome

Cognitive deficit - coarse facial features - cardiac malformation - obesity - pulmonary involvement - short stature, syndrome

THMD

Restrictive familial cardiomyopathies

TRMA

Non-compaction familial cardiomyopathies

Dilated familial cardiomyopathies

Dilated or congestive cardiomyopathies

Hypertrophic familial cardiomyopathies

Hypertrophic cardiomyopathies

Otto disease

Muscular dystrophy with generalized lipodystrophy

Muscular dystrophy linked to LAP1B

Titinopathies

Benign congenital myopathy

Wolfram-type syndrome

Platelet storage pool disorder, disease

CHOPS syndrome

Autosomal Recessive Agammaglobulinemia

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly, syndrome

Takenouchi-Kosaki syndrome

X-linked agammaglobulinemia

DEE28

WOREE, syndrome

Swyer syndrome

Periventricular nodular heterotopias

Fleisher syndrome

Partial gonadal dysgenesis

Bruton, disease

Spinocerebellar ataxia, autosomal recessive type 12

Walt Dysney dwarfism

ARAG

Young-Simpson syndrome

PAPHG syndrome

Alveolar pulmonary proteinosis

4-hydroxybutyric aciduria

SSADH syndrome

Succinic semialdehyde dehydrogenase deficiency

Osgood-Schlatter syndrome

Nezelof syndrome

Immune defect due to absence/hypoplasia of thymus

Thymic aplasia

Aldehyde dehydrogenase deficiency

Arrhythmogenic right ventricular dysplasia

Agammaglobulinemia, non X-linked

Familial erythrocytoses

Kohlmeier-Degos-Delort-Tricot syndrome

Kohlmeier-Degos, disease

Hemoglobin Sabine

Progressive ossifying myositis

Progressive osseous heteroplasia

Fibrous dysplasia of the bone

Pelviscapular dysplasia

Scapuloiliac dysostosis

Kosenow, syndrome

Cousin, syndrome

Multiple paragangliomas with erythrocytosis

Gerstmann-Straussler-Scheinker, syndrome

Pacak-Zhuang syndrome

Hallux bifidus

Ouvrier-Billson syndrome

Wieacker-Wolff syndrome

Tonic upgaze syndrome

Intellectual deficit- developmental delay - contractures syndrome

Contractures of feet - muscle atrophy - oculomotor apraxia, syndrome

CLIFAHDD

STAC3-related congenital myopathy

Fatal familial insomnia

Ohdo-Madokoro-Sonoda syndrome

Hallux duplication

Blepharophimosis-intellectual deficit: SBBYS type syndrome

Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Paragangliomas

DEDSSH syndrome

SYNGAP1 syndrome

Loucks-Innes syndrome

Levy-Hollister syndrome

LARD syndrome

LADD syndrome

Lacrimoauriculodentodigital syndrome

Hemoglobin PKU

Hemoglobin O Arab

Hemoglobin D Punjab

Migrating partial epilepsy

EIMFS

Scott-Taor syndrome

DPH1 syndrome

Ischiopatellar dysplasia

ALSG syndrome

Infantile granulomatous arthritis

Pseudohypoaldosteronism type 1

Intrahepatic biliary tracts paucity

Dwarfism: Laron type

Liddle, syndrome

Growth hormone insensitivity syndrome

Laron, syndrome

Carcinoid, syndrome

Alagille-Watson syndrome

Delta-storage pool disease

Familial hypokaliemia and hypomagnesemia

Epilepsy of Infancy with Migrating Focal Seizures

Puhr disease

Marie-Sainton, syndrome

Hypophosphatemia: X-linked

X-linked hypophosphatemia

Twin-to-twin transfusion syndrome

Posterior urethral valve

Anterior urethral valve

Vesicoureteral reflux

Urethral atresia

Congenital tracheal stenosis

Chronic Multifocal Recurrent Osteomyelitis

CMRO

MPSI

Persistent tachypnea of infancy

Moeschler-Clarren syndrome

NEHI

Malpaghi disease

Microlithiasis, alveolar pulmonary

Alveolar pulmonary microlithiasis

Diffuse pulmonary lymphangiomatosis

Lymphangiomatosis, pulmonary, diffuse

Neuroendocrine cells hyperplasia in infancy

German syndrome

Alveolar capillary dysplasia, congenital

Congenital acinar dysplasia

Acinar dysplasia: congenital

Small rotula syndrome

ChILD syndrome

Boerhaave, syndrome

Hashimoto, thyroiditis

Hashimoto, encephalitis

Cerebro-oculo-dento-auriculo-skeletal, syndrome

Fibrofolliculoma with trichodiscoma and acrochordons

Hornstein-Knickenberg, syndrome

Temple-Baraitser syndrome

CODAS syndrome

Birt-Hogg-Dubé, syndrome

Congenital torticollis

Pierre Robin sequence-hyperphalangia-clinodactyly

RASopathies

Beriberi

Mallory-Weiss, syndrome

Lymphocytic thyroiditis: chronic

Cortical generalized hyperostosis

Hyperphosphatasemia: late

Neurofibromatosis 1-like, syndrome

Cardio-facio-cutaneous, syndrome

Wong syndrome

ICF1 syndrome

Tongue-tie

Noonan syndrome, with lentiginosis

Deletion 11q (distal)

HHHH, syndrome

4H, syndrome

Dibasic proteins intolerance with lysinuria

Triple H syndrome

Hyperornithinemia - Hyperammoniemia - Homocitrullinuria

HHH, syndrome

Retino-cochleo-cerebral vasculopathy

SICRET syndrome

Susac syndrome

RED M syndrome

Hemoglobin Saint Mandé

Alternating hemiplegia of childhood

Deletion 11q (telomeric)

Autoimmune thyroiditis

Singleton-Merten dysplasia / syndrome

Keppen-Lubinsky syndrome

Lipomatosis: encephalo-cranio-cutaneous

Lane-Hamilton, syndrome

Idiopathic pulmonary hemosiderosis

Pulmonary hemosiderosis

Heiner, syndrome

Haberland, syndrome

Fishman, syndrome

Trichomegaly-pigmentary retinian degeneration-growth retardation

Oliver-McFarlane, syndrome

Avitaminosis B1

Monosomy 11q (distal)

Amyotrophic lateral sclerosis

Scott craniodigital syndrome, with mental retardation

Hypobetalipoproteinemia: severe early

Dermatopolymyositis

Dermatomyositis

Bassen-Kornzweig, disease

Matthew-Wood, syndrome

Marden-Walker, syndrome

Deficiency in vitamin B1

Microphthalmia type 3

MFDM, syndrome

MCOPS3

Head nodding syndrome

Posner-Schlossman, syndrome

Sarcoglyconopathies

C d'Opitz, syndrome

I cell disease

Deficiency in thiamine

Braegger, syndrome

Bertolotti, syndrome

Cholesterol esters storage disease

Retinoschisis-hemeralopia: precocious

LAL, deficiency in

Deficiency in LAL

Enhanced S-cone, syndrome

Goldmann-Favre, syndrome

Deficiency in acid lysosomal lipase A

Ulick syndrome

Deficiency in thymidine phosphorylase

Schimke syndrome

Mitochondrial neuro-gastro-intestinal encephalopathy

Dysplasia: spondylo-epiphyseal - nephrotic syndrome

Duplication 17p11.2

Deficiency in 11-B-hydroxysteroid déhydrogenase cortisol

Dysplasia: immuno-osseous - Schimke

AME, syndrome

Syndactyly type I with microcephaly and mental retardation

POLIP syndrome

Lutz-Darier-White, disease

Culler-Jones syndrome

Bosma-Henkin-Christiaesen syndrome

Mucosulfatidosis

Austin disease

Juvenile sulfatidosis

Sulfatases, multiple deficiency in

NGLY1 deficiency

NGLY1-CDDG

Focal epilepsy with speech disorders, with or without mental retardation

Red ear, syndrome

Aromatic L-amino acid decarboxylase deficiency

Besnier-Boeck_Schaumann disease

Opitz-Kaveggia syndrome

Portal cavernoma

Auto-brewery syndrome

Autistic spectrum disorders

Deoxyguanosine kinase deficiency

Bifid nose

Microdeletion 15q14

Sideropenic dysphagia

Kelly-Paterson syndrome

Plummer-Vinson syndrome

Natowicz syndrome

Alacrima - choreoathetosis - hepatopathy, syndrome

Flexor spasms

Aspirin-like defect, syndrome

Follicular ichthyosis-atrichia-photophobia, syndrome

OPDM syndrome

Oculopharyngodistal myopathy

IFAP/BRESHECK, syndrome

IFAP, syndrome

Hereditary macrothrombopathies

CAP

Pericardium, congenital absence of the

Congenital absence of the pericardium

ODOD syndrome

Weissenbacker-Zweymuller syndrome

Botryomycoma

BBS disease

Pyruvate carboxylase deficiency

Congenital disseminated pyogenic granuloma

Pyogenic granuloma

Pyruvate dehydrogenase, deficiency in

Hereditary thrombophilia due to a mutation of the prothrombin

Prothrombin, mutation G20210A of the

Hydranencephaly

Brunner syndrome

MAO deficiency

Fibrous polyostotic dysplasia

Lymphogranulomatosis: benign

Insulin-like growth factor I deficiency

Ataxia with lactic acidosis type 2

Cenani-Lenz, syndrome

Mucopolysaccharidosis IX

Obesity of genetic origin

Best disease

Zimmermann-Laband syndrome

Syndactylies

Brachydactyly - arterial hypertension, syndrome

Skraban-Dierdorff syndrome

Warsaw Breakage syndrome

Schuurs-Hoeijmakers syndrome

Hansen, disease

Banti-Senator, syndrome

Senator syndrome

Leprosy

Isolated portal hypertension

Banti, syndrome

FPIES

Eosinophilic esophagitis

Mohr-Tranebjaerg, syndrome

HUPRA, syndrome

Anton-Babinsky, syndrome

Dysostosis: mandibulofacial, microcephaly syndrome

WABS

X-linked reticulate pigmentary disorder

Ataxia - hypodontia - hypomyelinisation

Hemoglobin Mizuho

Lutembacher syndrome

Splenogonadal fusion - limbs transversal anomaly - micrognathia, syndrome

Splenogonadal fusion

Gelastic epilepsy

Dengue

Hypothalamic hamartoma

Good syndrome

Malaria

Nonepileptic psychogenic seizures

Riley-Smith syndrome

Van Esch-O'Driscoll syndrome

Helsmoortel - Van der Aa syndrome

Bainbridge-Ropers syndrome

Richter disease or transformation

PDAC syndrome

Syndromic microcephaly type 9

Meacham-Winn-Culler, syndrome

Meacham, syndrome

Funnel chest

Chicken breast syndrome

Pectus excavatum

Pectus carinatum

Gorlin Cohen, syndrome

Björk, syndrome

BNAR syndrome

Borrone, dermato-cardio-skeletal type syndrome

Stormorken-Sjaastad-Langslet syndrome

Dermato-cardio-skeletal, syndrome, Borrone type

Cardiomyopathy: tako-tsubo type

Stress cardiomyopathy

Ballooning: transient apical ventricular, syndrome

Tako-Tsubo syndrome

Nicolau, syndrome

Myopathies: congenital

Dysplasia: frontometaphyseal

Nodding, syndrome

Sternal cleft

Aciduria: 3-methylglutaconic type 5

Miyoshi myopathy

Dysferlinopathy

Teeth and nails, syndrome

DCMA syndrome

Atelosteogenesis

Witkop syndrome

Upshaw-Shulman syndrome

Thrombotic familial microangiopathy

Thrombotic microangiopathies

Clefts: lip, palate, lip and palate

3C, syndrome

Opiz trigonocephaly C

Behr, syndrome

Mitochondrial diseases

Aciduria: 3-methylglutaconic type 4

Aciduria: 3-méthylglutaconic type 3

Aciduria: 3-methylglutaconic type 1

Acidurias: 3-methylglutaconic

Tomaculous neuropathy

Microdeletion (heterozygotus)17p11 .2p12

Marles, syndrome

Larrey, hernia

HNPP

Neuropathy, hereditary, with liability to pressure palsies

Renal hereditary hypouricemia

FHHNC without ocular impairment

HOMG3

Hypomagnesemia: renal type 3

Hypomagnesemia, primary, familial, with hypocalcemia and nephrocalcinosis without severe ocular involvement

Deficiency in carnitine carrier

Deficiency in CACT

Deficiency in carnitine-acylcarnitine translocase

Lentiginosis, cardiomyopathic

Multiple lentigines, syndrome

Strümpell-Lorrain disease

Klüver-Bucy, syndrome

Spastic paraplegia: familial

PCD

Gusher, syndrome

Nesidioblastosis

Hyperinsulinism: congenital

Gunther, disease

DRESS syndrome

Laryngo-onycho-cutaneous, syndrome

Lawrence-Seip, syndrome

Lawrence, syndrome

Köbberling, syndrome

FPDL

Dysplasia: acromandibular

Lipodystrophies:partial

Lipodystrophy: generalized acquired

Dunnigan, syndrome

Coffin-Lowry, syndrome

BSCL

Malignant syndrome to neuroleptics

Seemanova type 2 syndrome

Pancreatites: congenital

Nijmegen breakage syndrome

Brachial plexus acute neuritis

NBS

Cryopyrinopathies

Berlin breakage syndrome

Ataxia-telangiectasia variant 1

AT V1

Amyotrophia: nevralgic

Parsonage-Turner, syndrome

Nijmegen, syndrome

Cardiac shunts

Hypodontia-ungueal dysplasia, syndrome

CAPS (2)

Bartsocas-Pappas, syndrome

Ivemark type II, syndrome

Fuhrmann, syndrome

Dysplasia: renal multicystic

Dysplasia: acromesomelic Maroteaux type

Dysplasia: acromesomelic Hunter-Thompson type

Dysplasia: acromesomelic Grebe type

Anti-synthetases, syndrome

Abetalipoproteinemia

Marinesco-Sjögren, syndrome

Pulmonary lymphangiectasy: congenital

Laurin-Sandrow, syndrome

Dysplasia: cranio-cerebello-cardiac

Cataracts: congenital - facial dysmorphy - neuropathy

Renal medullary cystic disease

MADD

Diprosopus

Tracheal atresia

Tracheal stenosis: congenital

Laryngeal web, congenital

Laryngeal atresia

LCHAD

Echinococcosis

Dystrophy: facio-scapulo-humeral

Landouzy-Dejerine myopathy

CCFDN

Grebe, syndrome

Kommerell: diverticulum

Esophageal atresia

Lusoria artery

Aortic arch, anomalies

Ankyloglossia

AEG, syndrome

G6PD, deficiency in

Reno-hepato-pancreatic syndrome

Renal coloboma syndrome

RCAD syndrome

Peroneal hypoplasia/aplasia - femur incurvationr - oligodactyly, syndrome

Renal cysts: acquired in association with chronic renal failure or hemodialysis

Du Pan, syndrome

Renal glomerulocystic disease

Fuhrmann-Rieger-De Sousa, syndrome

Brachydactyly: complex and fibular hypoplasia

Bosma, syndrome

Aplasia/hypoplasia of the limbs and pelvis, syndrome

Al Awadi-Raas-Rothschild, syndrome

Steinfeld syndrome

Polycystic kidney disease, autosomal recessive

Polycystic kidney disease, autosomal dominant

Phocomelia: Schinzel type

Papillo-renal, syndrome

Kystic renal diseases

Macrodactyly

Holoprosencephaly - renal, cardiac, radial abnormalities

SUNCT syndrome

Pulmonary veins stenosis

HNPCC syndrome

Dysplasia: osseous osteosclerotic lethal

BIDS

Amish-brittle hair, syndrome

Trichothiodystrophies

Dysplasia: oculo-skeletal

Marshall-Stickler, syndrome

Oculogenitolaryngeal syndrome

Facio-auriculo-vertebral, syndrome

3MC, syndrome

Roussy-Levy syndrome

Ritscher-Schinzel syndrome

Thrombotic thrombocytopenic familial purpura

Polyneuropathy with hypomyelinisation (congenital)

Infant hypertrophic neuropathy

Sensorimotor neuropathy, hereditary

Alacrima, congenital

Exocrine pancreatic insufficiency - dyserythropoietic anemia - calvarial hyperostosis

Myopathy: cardiosquelettic - neutropenia

Dysplasia: ectodermic type 3

Cafe-au-lait spots disease

Neurofibromatosis type VI

Neurofibromatoses

Myotubular myopathy

IBIDS, syndrome

Hyaline bodies myopathy

Coronary artery fistula

Centro-nuclear myopathies

Hamamy, syndrome

Evans, syndrome

Core-rod myopathy

Angiomatosis: cutaneous and digestive

Chronic urticaria with macroglobulinemia

Chronic urticaria with gammapathy

Zebra bodies myopathy