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16Q24.3 Microdeletion Syndrome
22q11 Deletion 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
acromesomelic dysplasia +
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
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
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 intellectual developmental disorder 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 +
Beckwith-Wiedemann 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 +
Bird Headed Dwarfism Montreal Type
Birk-Landau-Perez Syndrome
Blepharochalasis and Double Lip
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Bloch-Sulzberger syndrome +
Brachydactylous Dwarfism Mseleni Type
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
Brachytelephalangy Characteristic Facies Kallmann
Branchial Cleft Anomalies
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Camptodactyly Syndrome Guadalajara Type 2
Cantu Sanchez-Corona Fragoso Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardioacrofacial Dysplasia +
caudal regression syndrome
Cerebellar, Ocular, Craniofacial, and Genital Syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
Chondrodysplasia Calcificans Metaphysealis
CHOPRA-AMIEL-GORDON SYNDROME
chromosome 13q14 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 19q13.11 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
chromosome 8q21.11 deletion syndrome
Chromosome Xq28 Duplication Syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleidocranial dysplasia +
Cleidocranial Dysplasia 2
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 Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypothyroidism +
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +
congenital secretory sodium diarrhea 3
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
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 dysmorphism, skeletal anomalies, and mental retardation syndrome +
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
De Sanctis-Cacchione syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diaphanospondylodysostosis
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome +
diphthamide deficiency syndrome 1
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
distal arthrogryposis type 6
distal arthrogryposis type 7
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
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
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Dwarfism with Muscle Spasms
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Familial Synovial Chondromatosis with Dwarfism
Feingold Trainer Syndrome
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
GARG-MISHRA PROGEROID SYNDROME
geroderma osteodysplasticum
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Goldberg-Shprintzen syndrome
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Hormone Insensitivity with Immune Dysregulation +
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
Hengel-Maroofian-Schols syndrome
Hersh Podruch Weisskopf Syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
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 impaired intellectual development syndrome +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
hypotonia-cystinuria syndrome
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
immunodeficiency-centromeric instability-facial anomalies syndrome +
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Iris Dysplasia Hypertelorism Deafness
isolated growth hormone deficiency +
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
Kenny-Caffey syndrome type 2
Keratoconus Posticus Circumscriptus with Associated Malformations
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Krauss Herman Holmes Syndrome
Laplane Fontaine Lagardere 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
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
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 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
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
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, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Mesomelic Limb Shortening and Bowing
Metatropic Dwarfism, Type II
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
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
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
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
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
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-hypotonia-seizures syndrome 3
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
Multisystem Autoimmune Disease with Facial Dysmorphism
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Myoectodermal Gonadal Dysgenesis Syndrome
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
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 CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
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
Oliver-McFarlane syndrome
Orbital Margin, Hypoplasia of
orofaciodigital syndrome +
Otofacioosseous-Gonadal Syndrome
otopalatodigital syndrome spectrum disorder +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Patterson Pseudoleprechaunism Syndrome
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
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
Posterior Exchondrosis of Pinna
Powell Chandra Saal Syndrome
Preauricular Fistulae, Congenital
Premature Aging, Okamoto Type
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Proportionate Dwarfism with Hip Dislocation
Pseudoaminopterin Syndrome
Pseudodiastrophic Dysplasia
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
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
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
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 Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Smith-Lemli-Opitz syndrome +
Splenogonadal Fusion with Limb Defects and Micrognathia
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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
SULEIMAN-EL-HATTAB SYNDROME
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disorder Lujan-Fryns-type
Teebi hypertelorism syndrome +
Tessadori-van Haaften Neurodevelopmental Syndrome 1
Tessadori-van Haaften Neurodevelopmental Syndrome 2
Thomas Jewett Raines Syndrome
Thoraco Limb Dysplasia Rivera Type
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
Triphalangeal Thumbs with Brachyectrodactyly
Tryptophanuria with Dwarfism
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral Body Fusion Overgrowth
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
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
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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