-
Congenital Abnormalities --
Fetal Diseases --
Genetic Diseases, Inborn --
Infant, Newborn, Diseases -
2
22q11 Deletion Syndrome
4
46, XX Disorders of Sex Development
46, XX Testicular Disorders of Sex Development
46, XY Disorders of Sex Development
A
Abetalipoproteinemia
Abnormalities, Drug-Induced
Abnormalities, Multiple
Abnormalities, Radiation-Induced
Abnormalities, Severe Teratoid
Acatalasia
Achondroplasia
Acidosis, Renal Tubular
Acrocallosal Syndrome
Acrocephalosyndactylia
Acrodermatitis
Activated Protein C Resistance
Acute Chest Syndrome
Adenomatous Polyposis Coli
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenoleukodystrophy
Afibrinogenemia
Agenesis of Corpus Callosum
Aicardi Syndrome
Alagille Syndrome
Albinism
Albinism, Ocular
Albinism, Oculocutaneous
Alexander Disease
Alkaptonuria
a
alpha 1-Antitrypsin Deficiency
alpha-Mannosidosis
alpha-Thalassemia
A
Alstrom Syndrome
Amelogenesis Imperfecta
Amino Acid Metabolism, Inborn Errors
Amino Acid Transport Disorders, Inborn
Amniotic Band Syndrome
Amyloid Neuropathies, Familial
Amyloidosis, Familial
Andersen Syndrome
Androgen-Insensitivity Syndrome
Anemia, Diamond-Blackfan
Anemia, Dyserythropoietic, Congenital
Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hypoplastic, Congenital
Anemia, Neonatal
Anemia, Sickle Cell
Anencephaly
Angelman Syndrome
Angioedemas, Hereditary
Aniridia
Anodontia
Anophthalmos
Antithrombin III Deficiency
Antley-Bixler Syndrome Phenotype
Anus, Imperforate
Aortic Coarctation
Aortopulmonary Septal Defect
Arachnodactyly
Arachnoid Cysts
Argininosuccinic Aciduria
Arnold-Chiari Malformation
Arrhythmogenic Right Ventricular Dysplasia
Arterio-Arterial Fistula
Arteriovenous Fistula
Arteriovenous Malformations
Arthritis, Gouty
Arthrogryposis
Aspartylglucosaminuria
Asphyxia Neonatorum
Ataxia Telangiectasia
Autoimmune Lymphoproliferative Syndrome
B
Bardet-Biedl Syndrome
Barth Syndrome
Basal Cell Nevus Syndrome
Beckwith-Wiedemann Syndrome
Bernard-Soulier Syndrome
b
beta-Mannosidosis
beta-Thalassemia
B
Biliary Atresia
Biotinidase Deficiency
Birt-Hogg-Dube Syndrome
Birth Injuries
Bladder Exstrophy
Bland White Garland Syndrome
Blepharophimosis
Blood Coagulation Disorders, Inherited
Bloom Syndrome
Brachydactyly
Brain Diseases, Metabolic, Inborn
Branchio-Oto-Renal Syndrome
Bronchogenic Cyst
Bronchomalacia
Bronchopulmonary Dysplasia
Bronchopulmonary Sequestration
Brugada Syndrome
Bulbo-Spinal Atrophy, X-Linked
C
CADASIL
Campomelic Dysplasia
Camurati-Engelmann Syndrome
Canavan Disease
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Cardiomyopathy, Hypertrophic, Familial
Cardiovascular Abnormalities
Carney Complex
Caroli Disease
Central Nervous System Cysts
Central Nervous System Vascular Malformations
Central Nervous System Venous Angioma
Cerebral Amyloid Angiopathy, Familial
Cervical Rib Syndrome
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Cherubism
Choanal Atresia
Choledochal Cyst
Cholesterol Ester Storage Disease
Chondrodysplasia Punctata, Rhizomelic
Chorioamnionitis
Choroideremia
Chromosome Disorders
Citrullinemia
Classical Lissencephalies and Subcortical Band Heterotopias
Cleft Lip
Cleft Palate
Cleidocranial Dysplasia
Clubfoot
Cobblestone Lissencephaly
Cockayne Syndrome
Coffin-Lowry Syndrome
Colloid Cysts
Coloboma
Colorectal Neoplasms, Hereditary Nonpolyposis
Congenital Abnormalities
Congenital Disorders of Glycosylation
Congenital Hyperinsulinism
Congenital Hypothyroidism
Coproporphyria, Hereditary
Cor Triatriatum
Corneal Dystrophies, Hereditary
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Coronary Vessel Anomalies
Costello Syndrome
Craniofacial Abnormalities
Craniofacial Dysostosis
Craniosynostoses
Cri-du-Chat Syndrome
Crigler-Najjar Syndrome
Crisscross Heart
Cryopyrin-Associated Periodic Syndromes
Cryptorchidism
Cutis Laxa
Cystic Adenomatoid Malformation of Lung, Congenital
Cystic Fibrosis
Cystinosis
Cystinuria
Cytochrome-c Oxidase Deficiency
D
Dandy-Walker Syndrome
Darier Disease
De Lange Syndrome
Deaf-Blind Disorders
d
delta-Thalassemia
D
Dens in Dente
Dent Disease
Dental Enamel Hypoplasia
Dentin Dysplasia
Dentinogenesis Imperfecta
Dentofacial Deformities
Denys-Drash Syndrome
Dermatitis, Atopic
Dextrocardia
Diaphragmatic Eventration
DiGeorge Syndrome
Digestive System Abnormalities
Dihydropyrimidine Dehydrogenase Deficiency
Disorders of Sex Development
Distal Myopathies
Donohue Syndrome
Double Outlet Right Ventricle
Down Syndrome
Duane Retraction Syndrome
Ductus Arteriosus, Patent
Dwarfism
Dysautonomia, Familial
Dyskeratosis Congenita
Dysplastic Nevus Syndrome
Dystonia Musculorum Deformans
E
Ebstein Anomaly
Echogenic Bowel
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectopia Cordis
Ectopia Lentis
Ectromelia
Ehlers-Danlos Syndrome
Eisenmenger Complex
Elliptocytosis, Hereditary
Ellis-Van Creveld Syndrome
Encephalocele
Endocardial Cushion Defects
Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa, Junctional
Epilepsy, Benign Neonatal
Epispadias
Erythroblastosis, Fetal
Erythrokeratodermia Variabilis
Esophageal Atresia
Exostoses, Multiple Hereditary
Eye Abnormalities
Eye Diseases, Hereditary
F
Fabry Disease
Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Factor XIII Deficiency
Familial Hypophosphatemic Rickets
Familial Mediterranean Fever
Fanconi Anemia
Fanconi Syndrome
Farber Lipogranulomatosis
Favism
Fetal Alcohol Spectrum Disorders
Fetal Diseases
Fetal Growth Retardation
Fetal Hypoxia
Fetal Macrosomia
Fetofetal Transfusion
Fetomaternal Transfusion
Fibromatosis, Gingival
Focal Dermal Hypoplasia
Foot Deformities, Congenital
Foramen Ovale, Patent
Fragile X Syndrome
Fraser Syndrome
Frasier Syndrome
Freemartinism
Friedreich Ataxia
Fructose Intolerance
Fructose Metabolism, Inborn Errors
Fructose-1,6-Diphosphatase Deficiency
Fuchs' Endothelial Dystrophy
Fucosidosis
Funnel Chest
Fused Teeth
G
Galactosemias
Gangliosidoses
Gangliosidoses, GM2
Gangliosidosis, GM1
Gardner Syndrome
Gastroschisis
Gaucher Disease
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Genetic Diseases, Y-Linked
Gerstmann-Straussler-Scheinker Disease
Giant Axonal Neuropathy
Gilbert Disease
Gitelman Syndrome
Glucosephosphate Dehydrogenase Deficiency
Glycogen Storage Disease
Glycogen Storage Disease Type I
Glycogen Storage Disease Type II
Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type III
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VIII
Glycosuria, Renal
Goldenhar Syndrome
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
Gonadoblastoma
Gout
Granulomatous Disease, Chronic
Gray Platelet Syndrome
Gyrate Atrophy
H
Hajdu-Cheney Syndrome
Hallermann's Syndrome
Hamartoma Syndrome, Multiple
Hand Deformities, Congenital
Hartnup Disease
Heart Defects, Congenital
Heart Septal Defects
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Hemangioma, Cavernous, Central Nervous System
Hemochromatosis
Hemoglobin C Disease
Hemoglobin SC Disease
Hemoglobinopathies
Hemophilia A
Hemophilia B
Hepatolenticular Degeneration
Hereditary Autoinflammatory Diseases
Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Central Nervous System Demyelinating Diseases
Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Motor Neuropathy
Heredodegenerative Disorders, Nervous System
Hermanski-Pudlak Syndrome
Hernia, Umbilical
Heterotaxy Syndrome
Hip Dislocation, Congenital
Hirschsprung Disease
Holocarboxylase Synthetase Deficiency
Holoprosencephaly
Homocystinuria
Huntington Disease
Hyaline Membrane Disease
Hyalinosis, Systemic
Hydranencephaly
Hydrophthalmos
Hydrops Fetalis
Hyper-IgM Immunodeficiency Syndrome
Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyperandrogenism
Hyperargininemia
Hyperbilirubinemia, Hereditary
Hyperbilirubinemia, Neonatal
Hyperglycinemia, Nonketotic
Hyperhomocysteinemia
Hyperkeratosis, Epidermolytic
Hyperlipidemia, Familial Combined
Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type II
Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type V
Hyperlysinemias
Hyperostosis, Cortical, Congenital
Hyperoxaluria, Primary
Hypertelorism
Hyperthyroxinemia, Familial Dysalbuminemic
Hypoalphalipoproteinemias
Hypobetalipoproteinemias
Hypokalemic Periodic Paralysis
Hypolipoproteinemias
Hypophosphatasia
Hypophosphatemia, Familial
Hypoplastic Left Heart Syndrome
Hypoprothrombinemias
Hypospadias
I
Ichthyosiform Erythroderma, Congenital
Ichthyosis
Ichthyosis Bullosa of Siemens
Ichthyosis Vulgaris
Ichthyosis, Lamellar
Ichthyosis, X-Linked
Incontinentia Pigmenti
Infant, Newborn, Diseases
Infant, Premature, Diseases
Intestinal Atresia
Intracranial Arteriovenous Malformations
Isolated Noncompaction of the Ventricular Myocardium
J
Jacobsen Distal 11q Deletion Syndrome
Jaundice, Chronic Idiopathic
Jaundice, Neonatal
Jaw Abnormalities
Jervell-Lange Nielsen Syndrome
K
Kallmann Syndrome
Kartagener Syndrome
Keratoderma, Palmoplantar
Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Epidermolytic
Kernicterus
Klinefelter Syndrome
Klippel-Feil Syndrome
L
Lactose Intolerance
Lafora Disease
Laron Syndrome
Laryngocele
Laryngomalacia
Laryngostenosis
Laurence-Moon Syndrome
Lecithin Acyltransferase Deficiency
Leigh Disease
LEOPARD Syndrome
Lesch-Nyhan Syndrome
Leukodystrophy, Globoid Cell
Leukodystrophy, Metachromatic
Leukokeratosis, Hereditary Mucosal
Leukomalacia, Periventricular
Levocardia
Li-Fraumeni Syndrome
Liddle Syndrome
Limb Deformities, Congenital
Lingual Goiter
Lingual Thyroid
Lipid Metabolism, Inborn Errors
Lipidoses
Lipodystrophy, Congenital Generalized
Lipoid Proteinosis of Urbach and Wiethe
Lissencephaly
Loeys-Dietz Syndrome
Long QT Syndrome
Lower Extremity Deformities, Congenital
Lutembacher Syndrome
Lymphangiectasis, Intestinal
Lymphatic Abnormalities
Lynch Syndrome II
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
M
Machado-Joseph Disease
Macrocephaly
Macrostomia
Malformations of Cortical Development
Mandibulofacial Dysostosis
Mannosidase Deficiency Diseases
Maple Syrup Urine Disease
Marfan Syndrome
Maxillofacial Abnormalities
May-Thurner Syndrome
Meckel Diverticulum
Meconium Aspiration Syndrome
MELAS Syndrome
Meningocele
Meningomyelocele
Menkes Kinky Hair Syndrome
Mental Retardation, X-Linked
MERRF Syndrome
Metabolism, Inborn Errors
Metal Metabolism, Inborn Errors
Mevalonate Kinase Deficiency
Microcephaly
Micrognathism
Microphthalmos
Microstomia
Mineralocorticoid Excess Syndrome, Apparent
Mobius Syndrome
Monilethrix
Mouth Abnormalities
Mucolipidoses
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Muir-Torre Syndrome
Mulibrey Nanism
Multicystic Dysplastic Kidney
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Carboxylase Deficiency
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Multiple Sulfatase Deficiency Disease
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Oculopharyngeal
Musculoskeletal Abnormalities
Myasthenic Syndromes, Congenital
Myocardial Bridging
Myoclonic Cerebellar Dyssynergia
Myotonia Congenita
Myotonic Dystrophy
N
Nail-Patella Syndrome
Neonatal Abstinence Syndrome
Neoplastic Syndromes, Hereditary
Nephritis, Hereditary
Nervous System Malformations
Nesidioblastosis
Netherton Syndrome
Neural Tube Defects
Neuroacanthocytosis
Neurocutaneous Syndromes
Neurofibromatoses
Neurofibromatosis 1
Neurofibromatosis 2
Neuronal Ceroid-Lipofuscinoses
Neuronal Migration Disorders
Nevus, Sebaceous of Jadassohn
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Noonan Syndrome
Nuchal Cord
Nystagmus, Congenital
O
Oculocerebrorenal Syndrome
Odontodysplasia
Olivopontocerebellar Atrophies
Ophthalmia Neonatorum
Optic Atrophies, Hereditary
Optic Atrophy, Autosomal Dominant
Optic Atrophy, Hereditary, Leber
Ornithine Carbamoyltransferase Deficiency Disease
Orofaciodigital Syndromes
Osteoarthropathy, Primary Hypertrophic
Osteogenesis Imperfecta
Ovotesticular Disorders of Sex Development
P
Pachyonychia Congenita
Pain Insensitivity, Congenital
Pallister-Hall Syndrome
Pantothenate Kinase-Associated Neurodegeneration
Papillon-Lefevre Disease
Paralyses, Familial Periodic
Paralysis, Hyperkalemic Periodic
Paralysis, Obstetric
Pelger-Huet Anomaly
Pelizaeus-Merzbacher Disease
Pemphigus, Benign Familial
Pentalogy of Cantrell
Periventricular Nodular Heterotopia
Peroxisomal Disorders
Persistent Fetal Circulation Syndrome
Persistent Hyperplastic Primary Vitreous
Peutz-Jeghers Syndrome
Phenylketonuria, Maternal
Phenylketonurias
Piebaldism
Pierre Robin Syndrome
Plagiocephaly
Plagiocephaly, Nonsynostotic
Platybasia
POEMS Syndrome
Poland Syndrome
Polycystic Kidney, Autosomal Recessive
Polydactyly
Porokeratosis
Porphyria Cutanea Tarda
Porphyria, Acute Intermittent
Porphyria, Erythropoietic
Porphyria, Hepatoerythropoietic
Porphyria, Variegate
Porphyrias
Porphyrias, Hepatic
Port-Wine Stain
Prader-Willi Syndrome
Progeria
Prognathism
Prolidase Deficiency
Propionic Acidemia
Protein C Deficiency
Proteus Syndrome
Protoporphyria, Erythropoietic
Prune Belly Syndrome
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Pseudoxanthoma Elasticum
Pulmonary Atresia
Purine-Pyrimidine Metabolism, Inborn Errors
Pycnodysostosis
Pyelectasis
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Metabolism, Inborn Errors
R
Refsum Disease
Refsum Disease, Infantile
Renal Aminoacidurias
Renal Tubular Transport, Inborn Errors
Respiratory Distress Syndrome, Newborn
Respiratory System Abnormalities
Retinal Dysplasia
Retinitis Pigmentosa
Retinopathy of Prematurity
Retrocaval Ureter
Retrognathia
Rett Syndrome
Romano-Ward Syndrome
Rothmund-Thomson Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi Syndrome
S
Sandhoff Disease
Sarcoglycanopathies
Scimitar Syndrome
Sclerema Neonatorum
Sea-Blue Histiocyte Syndrome
Septo-Optic Dysplasia
Severe Combined Immunodeficiency
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Sexual Infantilism
Short Rib-Polydactyly Syndrome
Sialic Acid Storage Disease
Sickle Cell Trait
Silver-Russell Syndrome
Single Umbilical Artery
Sinus Pericranii
Situs Inversus
Sjogren-Larsson Syndrome
Skin Abnormalities
Skin Diseases, Genetic
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Spastic Paraplegia, Hereditary
Spherocytosis, Hereditary
Sphingolipidoses
Spina Bifida Cystica
Spina Bifida Occulta
Spinal Dysraphism
Spinal Muscular Atrophies of Childhood
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Steatocystoma Multiplex
Steroid Metabolism, Inborn Errors
Stomatognathic System Abnormalities
Sulfatidosis
Syndactyly
Synostosis
Syphilis, Congenital
T
Tangier Disease
Tay-Sachs Disease
Tay-Sachs Disease, AB Variant
Telangiectasia, Hereditary Hemorrhagic
Tetralogy of Fallot
Thalassemia
Thanatophoric Dysplasia
Thrombasthenia
Thrombocytopenia, Neonatal Alloimmune
Thyroid Dysgenesis
Tooth Abnormalities
Tooth, Supernumerary
Tourette Syndrome
Toxoplasmosis, Congenital
Tracheobronchomalacia
Tracheobronchomegaly
Tracheomalacia
Transient Tachypnea of the Newborn
Transposition of Great Vessels
Trichothiodystrophy Syndromes
Tricuspid Atresia
Trilogy of Fallot
Truncus Arteriosus, Persistent
Tuberous Sclerosis
Turner Syndrome
Twins, Conjoined
Tyrosinemias
U
Unverricht-Lundborg Syndrome
Upper Extremity Deformities, Congenital
Urea Cycle Disorders, Inborn
Urogenital Abnormalities
Usher Syndromes
V
Vascular Malformations
Vein of Galen Malformations
Velopharyngeal Insufficiency
Vitamin K Deficiency Bleeding
Vitelliform Macular Dystrophy
v
von Willebrand Disease, Type 1
von Willebrand Disease, Type 2
von Willebrand Disease, Type 3
von Willebrand Diseases
W
Waardenburg Syndrome
WAGR Syndrome
Walker-Warburg Syndrome
Weill-Marchesani Syndrome
Werner Syndrome
Williams Syndrome
Wilms Tumor
Wiskott-Aldrich Syndrome
Wolf-Hirschhorn Syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolman Disease
X
X-Linked Combined Immunodeficiency Diseases
Xanthomatosis, Cerebrotendinous
Xeroderma Pigmentosum
Y
Yellow Nail Syndrome
Z
Zellweger Syndrome
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