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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-hydroxyisobutryl-CoA hydrolase deficiency
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 +
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
anterior segment dysgenesis 4
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
asphyxiating thoracic dystrophy +
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant intellectual developmental disorder 22
autosomal recessive craniometaphyseal dysplasia
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
Bamforth-Lazarus syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Bazopoulou Kyrkanidou Syndrome
Beckwith-Wiedemann syndrome +
Ben Ari Shuper Mimouni Syndrome
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
blepharocheilodontic syndrome +
Bloch-Sulzberger syndrome +
bone development disease +
bone inflammation disease +
bone remodeling disease +
bone resorption disease +
brachycephaly, trichomegaly, and developmental delay
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Carabelli Anomaly of Maxillary Molar Teeth
Cardiac, Facial, and Digital Anomalies with Developmental Delay
caudal regression syndrome
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 22q11.2 microduplication syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 5p13 duplication syndrome
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
Cloverleaf Skull Micromelia Thoracic Dysplasia
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 Deafness with Inner Ear Agenesis, Microtia, and Microdontia
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital secretory sodium diarrhea 3
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Copper Deficiency, Familial Benign
Cornelia de Lange syndrome +
Costocoracoid Ligament Congenitally Short
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
Craniofacial Dysostosis with Diaphyseal Hyperplasia
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
Craniomicromelic Syndrome
Craniosynostosis and Dental Anomalies
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
dental enamel hypoplasia +
dentinogenesis imperfecta +
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
Dincsoy Salih Patel Syndrome
distal arthrogryposis type 7
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Endocrine Bone Diseases +
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Euhidrotic Ectodermal Dysplasia
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
familial isolated trichomegaly
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
familial woolly hair syndrome +
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
fibular collateral ligament bursitis
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Freeman-Sheldon syndrome +
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
geroderma osteodysplasticum
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Hallermann-Streiff syndrome +
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
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
Hunter-Macdonald Syndrome
hyperphosphatasia with impaired intellectual development syndrome +
Hypomandibular Faciocranial Dysostosis
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
Infectious Bone Diseases +
inflammatory poikiloderma with hair abnormalities and acral keratoses
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kaler Garrity Stern Syndrome
Kaplan Plauchu Fitch Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Keratoconus Posticus Circumscriptus with Associated Malformations
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
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
Mandibulofacial Dysostosis +
Marles Greenberg Persaud Syndrome
Martinez Monasterio Pinheiro Syndrome
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
Mesomelia-Synostoses Syndrome
Mesomelic Limb Shortening and Bowing
Metabolic Bone Diseases +
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microdontia Hypodontia Short Stature
Microspherophakia with Hernia
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
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 DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
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 +
oblique facial clefting 1
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Oculoskeletodental Syndrome
Odontomicronychial Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
Oroacral Syndrome, Verloes-Koulischer Type
orofaciodigital syndrome +
Osteootohepatoenteric Syndrome
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Patterson Pseudoleprechaunism Syndrome
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
Pelvis-Shoulder Dysplasia
Penoscrotal Transposition
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Tietze Welte Syndrome
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
photosensitive trichothiodystrophy 1
Piepkorn Karp Hickok syndrome
polycystic kidney disease +
postaxial acrofacial dysostosis
Postaxial Polydactyly, with Dental and Vertebral Anomalies
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
primary hypertrophic osteoarthropathy +
Pseudoaminopterin Syndrome
Pseudofolliculitis Barbae
pure hair and nail ectodermal dysplasia +
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
Ramos Arroyo Clark Syndrome
Renal Hypophosphatemia with Intracerebral Calcifications
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
Ritscher-Schinzel 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
Schrander-Stumpel Theunissen Hulsmans Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Seckel Like Syndrome Type Buebel
Sharma Kapoor Ramji Syndrome
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 2
Smith-Lemli-Opitz syndrome +
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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
Taurodontism, Microdontia, and Dens Invaginatus
Teebi hypertelorism syndrome +
temtamy preaxial brachydactyly syndrome
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
tibial muscular dystrophy
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
trichodontoosseous syndrome
Trichodysplasia-Xeroderma
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type III
Triphalangeal Thumbs with Brachyectrodactyly
Trochlea of the Humerus, Aplasia of
Uncombable Hair Syndrome +
Urioste Martinez-Frias Syndrome
Uropathy Distal Obstructive Polydactyly
Uruguay faciocardiomusculoskeletal syndrome
Van den Ende-Gupta syndrome
Velofacioskeletal Syndrome
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
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
Whistling Face Syndrome, Recessive Form
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Wiedemann-Steiner syndrome
Winter Harding Hyde Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
Yemenite Deaf-Blind Hypopigmentation Syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zimmerman Laband Syndrome +
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