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10p Deletion Syndrome (partial)
16p11.2 Deletion Syndrome
16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome + Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
3-methylglutaconic aciduria type 4
ablepharon macrostomia syndrome
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
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
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alpha thalassemia-intellectual disability syndrome type 1
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex Congenita Whistling Face
asphyxiating thoracic dystrophy +
Asymmetric Short Stature Syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant hypocalcemia 1 +
autosomal dominant non-syndromic intellectual disability 22
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axenfeld-Rieger syndrome type 1
Axial Mesodermal Dysplasia Spectrum
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
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
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Birk-Landau-Perez Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bloch-Sulzberger syndrome +
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Camptodactyly Syndrome Guadalajara Type 2
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
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
Cerebrofaciothoracic Dysplasia
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebrooculonasal Syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
Chondrodysplasia, Megarbane-Dagher-Melki Type
chromosome 10q23 deletion syndrome
Chromosome 11p Deletion Syndrome
chromosome 13q14 deletion syndrome
Chromosome 13q33-q34 Deletion Syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
Chromosome 15q14 Deletion Syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 1q41-q42 deletion syndrome +
chromosome 22q11.2 microduplication syndrome
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly
cleft palate, cardiac defects, and intellectual disabillity
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
combined oxidative phosphorylation deficiency 2
Combined Pituitary Hormone Deficiency, 1
Combined Pituitary Hormone Deficiency, 4
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
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 Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
congenital secretory sodium diarrhea 3
Conotruncal Cardiac Defects
Cornelia de Lange syndrome +
Coronary Vessel Anomalies +
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
Costocoracoid Ligament Congenitally Short
Cranioacrofacial Syndrome
craniodiaphyseal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
Craniofacial Dyssynostosis
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
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
Curly Hair-Acral Keratoderma-Caries Syndrome
Dahlberg Borer Newcomer 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 cardiac valvular defect
dextro-looped transposition of the great arteries +
Diaphanospondylodysostosis
Dincsoy Salih Patel Syndrome
distal 10q deletion syndrome
distal arthrogryposis type 6
distal arthrogryposis type 7
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Facial Dysmorphism with Multiple Malformations +
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
Facio Thoraco Genital Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Anomalous Origin of Right Pulmonary Artery
familial isolated hypoparathyroidism +
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Feingold Trainer Syndrome
Femur Bifid with Monodactylous Ectrodactyly
Femur Fibula Ulna Syndrome
fetal encasement syndrome
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Fronto-Facio-Nasal Dysplasia
Frontootopalatodigital Osteodysplasia
Game Friedman Paradice 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
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gonadal Dysgenesis, XY Type, with Associated Anomalies
Gorlin Chaudhry Moss Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Hall Riggs Mental Retardation Syndrome
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Haspeslagh Fryns Muelenaere Syndrome
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
hereditary nonpolyposis colorectal cancer type 8
Hersh Podruch Weisskopk Syndrome
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
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Humeroradial Synostosis with Craniofacial Anomalies
Hunter-Macdonald Syndrome
Hyperphosphatasia with Mental Retardation +
hypertelorism, microtia, facial clefting syndrome
Hypomelia Mullerian Duct Anomalies
Hypoparathyroidism, Autosomal Recessive
hypoparathyroidism-deafness-renal disease syndrome
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
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
immunodeficiency-centromeric instability-facial anomalies syndrome +
Insulin-Like Growth Factor I, Resistance To
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
Intestinal Lymphangiectasis +
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jones Hersh Yusk Syndrome
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
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
Lethal Faciocardiomelic Dysplasia
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
Light Fixation Seizure Syndrome
linear nevus sebaceous syndrome +
linear skin defects with multiple congenital anomalies 2
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
Mandibuloacral Dysplasia Progeroid Syndrome
Mandibuloacral Dysplasia with Type B Lipodystrophy
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Marles Greenberg Persaud Syndrome
Maxillofacial Abnormalities +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Mehta Lewis Patton Syndrome
Menke-Hennekam Syndrome +
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Mexican Cardiomelic Dysplasia
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
Microspherophakia with Hernia
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Miller-Dieker lissencephaly syndrome
Morillo-Cucci Passarge Syndrome
Mousa Al din Al Nassar Syndrome
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
mucolipidosis II alpha/beta
Mucopolysaccharidosis-Plus Syndrome
Mullegama-Klein-Martinez syndrome
Muller Barth Menger Syndrome
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
multiple congenital anomalies-hypotonia-seizures syndrome +
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple pterygium syndrome +
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
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
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculoauriculofrontonasal Syndrome
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
oculodentodigital dysplasia +
Oculootofacial Dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
patent ductus arteriosus +
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
Piepkorn Karp Hickok syndrome
polycystic kidney disease +
postaxial acrofacial dysostosis
posterior amorphous corneal dystrophy
Posterior Exchondrosis of Pinna
Powell Chandra Saal Syndrome
Preauricular Fistulae, Congenital
Premature Aging, Okamoto Type
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Pulmonary Atresia with Intact Ventricular Septum
Radial Defect Robin Sequence
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
Radial Ray Hypoplasia Choanal Atresia
Radio-Ulnar Synostosis Type 1
Radio-Ulnar Synostosis Type 2
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Ramos Arroyo Clark Syndrome
Reardon Hall Slaney syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
Renal Tubular Dysgenesis with Choanal Atresia and Athelia
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
Right Ventricle Hypoplasia
Ritscher-Schinzel syndrome +
Rommen Mueller Sybert Syndrome
Rozin Hertz Goodman Syndrome
Rubella Syndrome, Congenital
Rubinstein-Taybi syndrome +
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
Schinzel-Giedion Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
Seckel Like Syndrome Type Buebel
Sharma Kapoor Ramji Syndrome
Short Stature and Facioauriculothoracic Malformations
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
SIFRIM-HITZ-WEISS SYNDROME
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Smith-Lemli-Opitz syndrome +
Splenogonadal Fusion Limb Defects Micrognatia
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
Spondyloocular Syndrome, Autosomal Recessive
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
Subaortic Stenosis, Membranous
SULEIMAN-EL-HATTAB SYNDROME
syndromic X-linked intellectual disability Abidi type
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum
Testicular Anomalies with or without Congenital Heart Disease
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
thrombocytopenia-absent radius syndrome
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
Triphalangeal Thumbs Brachyectrodactyly
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta 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 Body Fusion Overgrowth
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
Viljoen Kallis Voges Syndrome
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Williams-Beuren syndrome +
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolff-Parkinson-White syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked cardiac valvular dysplasia
X-linked hypoparathyroidism
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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