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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Achromatopsia Incomplete, X-Linked
acrocardiofacial syndrome
Acrocephalopolydactylous Dysplasia
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Adducted Thumbs Syndrome +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
alpha-thalassemia myelodysplasia syndrome
androgen insensitivity syndrome +
Anencephaly and Spina Bifida X-Linked
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis, X-Linked, Type V
asphyxiating thoracic dystrophy +
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant intellectual developmental disorder 22
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Ben Ari Shuper Mimouni Syndrome
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bifid Femur with Monodactylous Ectrodactyly
Bilateral Amastia with Ureteral Triplication and Dysmorphism
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
Bloch-Sulzberger syndrome +
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Branchial Arch Syndrome X-Linked
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Cardiac Valvular Dysplasia +
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
caudal regression syndrome
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 15q26-qter deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 6pter-p24 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate with Ankyloglossia
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 4
combined T cell and B cell immunodeficiency +
Congenital Adrenal Hypoplasia with Precocious Puberty
Congenital Alopecia X-Linked
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital bilateral absence of vas deferens +
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
congenital hypogammaglobulinemia
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Ptosis, Hereditary 2
congenital secretory sodium diarrhea 3
Conotruncal Cardiac Defects
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
Coronary Vessel Anomalies +
corpus callosum agenesis-abnormal genitalia syndrome
Costocoracoid Ligament Congenitally Short
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
developmental and epileptic encephalopathy 90
dextro-looped transposition of the great arteries +
Dilated Cardiomyopathy 3A
Dincsoy Salih Patel Syndrome
distal arthrogryposis type 7
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
Epidermodysplasia Verruciformis, X-Linked
Episodic Muscle Weakness, X-Linked
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
External Ophthalmoplegia and Myopia
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Anomalous Origin of Right Pulmonary Artery
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
fetal akinesia deformation sequence syndrome X-linked
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
Hersh Podruch Weisskopf Syndrome
High-Frequency Deafness, Sensorineural, X-Linked
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Hodgkin Disease, X-Linked Pseudoautosomal
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hydrocephalus with Cerebellar Agenesis
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyperphosphatasia with impaired intellectual development syndrome +
hypertelorism, microtia, facial clefting syndrome
Hypertrichosis Congenital Generalized X-Linked
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
intracranial berry aneurysm 5
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium + Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen.
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
Le Marec Bracq Picaud Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Lethal Faciocardiomelic Dysplasia
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
linear nevus sebaceous syndrome +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Marles Greenberg Persaud Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Mehta Lewis Patton Syndrome
Membranoproliferative Glomerulonephritis, X-Linked
Membranous Subaortic Stenosis
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Mexican Cardiomelic Dysplasia
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Microcornea Syndrome Seemanova Type
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
Microphthalmia/Coloboma 1
Microspherophakia with Hernia
Midline Defects, X-Linked
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Muller Barth Menger Syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multiple Pterygium Syndrome, X-Linked
Myoectodermal Gonadal Dysgenesis Syndrome
Myopia 26, X-Linked, Female-Limited
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
NEMO Mutation with Immunodeficiency
Neural Tube Defects X-Linked
NEUROCARDIOFACIODIGITAL SYNDROME
NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Nystagmus 5, Infantile Periodic Alternating
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
ornithine carbamoyltransferase deficiency
orofaciodigital syndrome +
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Partial Agenesis of Corpus Callosum, X-Linked
patent ductus arteriosus +
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Periventricular Nodular Heterotopia 4
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
Piepkorn Karp Hickok syndrome
polycystic kidney disease +
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
primary ovarian insufficiency 1
Progressive Muscular Dystrophy, Pectorodorsal
Prostate Cancer, Hereditary, X-Linked 1
Prostate Cancer, Hereditary, X-Linked 2
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
Pulmonary Surfactant Metabolism Dysfunction 4
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Deficiency, X-Linked
Radial Ray Hypoplasia Choanal Atresia
Radiation Sensitivity of Natural Killer Activity
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radius Absent Anogenital Anomalies
Ramos Arroyo Clark Syndrome
reducing body myopathy 1B
Renal Hypophosphatemia with Intracerebral Calcifications
Reticuloendotheliosis, X-Linked
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Right Ventricle Hypoplasia
Ritscher-Schinzel syndrome +
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
Russell-Silver Syndrome, X-Linked
Sackey Sakati Aur Syndrome
Sacral Meningocele Conotruncal Heart Defects
Sanderson Fraser Syndrome
Sandhaus Ben-Ami Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Schaefer Stein Oshman Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Seckel Like Syndrome Type Buebel
Selective Tooth Agenesis, X-Linked, 1
Sharma Kapoor Ramji Syndrome
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sketetal Dysplasia Coarse Facies Mental Retardation
Smith-Lemli-Opitz syndrome +
split hand-foot malformation 2
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Spondylometaphyseal Dysplasia, X-Linked
Squalene Synthase Deficiency
Stankiewicz-Isidor Syndrome
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
Stoelinga de Koomen Davis Syndrome
Structural Heart Defects and Renal Anomalies Syndrome
SULEIMAN-EL-HATTAB SYNDROME
syndromic microphthalmia 13
Systemic Autoinflammatory Disease, X-Linked
Teebi hypertelorism syndrome +
terminal osseous dysplasia
Testicular Anomalies with or without Congenital Heart Disease
Testicular Germ Cell Tumor 1
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thrombocythemia, X-Linked
Thymic Aplasia with Fetal Death
Thyroxine-Binding Globulin Deficiency +
Tollner Horst Manzke Syndrome
Torticollis Keloids Cryptorchidism Renal Dysplasia
Tricho-Dento-Osseous Syndrome 1
Triphalangeal Thumbs with Brachyectrodactyly
Ulnar Agenesis and Endocardial Fibroelastosis
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Vasquez Hurst Sotos Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Velofacioskeletal Syndrome
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
Von Willebrand Disease, X-Linked Form
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Wolff-Parkinson-White syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X Inactivation, Familial Skewed, 1
X Inactivation, Familial Skewed, 2
X-Linked Anemia without Thrombocytopenia
X-linked cardiac valvular dysplasia
X-linked central diabetes insipidus
X-linked cleft palate with or without ankyloglossia
X-Linked Cone Dystrophy with Tapetal-like Sheen
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 2
X-linked congenital myopathy with fiber-type disproportion
X-linked dilated cardiomyopathy +
X-linked dominant disease +
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked exudative vitreoretinopathy 2
X-linked hereditary ataxia +
X-Linked Hypogammaglobulinemia
X-linked hypoparathyroidism
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
X-Linked Intellectual Developmental Disorders +
X-Linked Macular Dystrophy +
X-Linked Modifier for Neurofunctional Defects
X-linked nonsyndromic deafness +
X-linked panhypopituitarism +
X-linked recessive disease +
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa and sinorespiratory infections
X-Linked Spermatogenic Failure 4
X-Linked Spermatogenic Failure 5
X-Linked Spermatogenic Failure 6
X-Linked Spermatogenic Failure 7
X-Linked Thrombocytopenia, Intermittent
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
X-linked thrombophilia due to factor IX defect
X-Linked Thrombophilia due to Factor VIII Defect
X-Linked Vesicoureteral Reflux
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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