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16Q24.3 Microdeletion Syndrome
22q11 Deletion Syndrome +
3-methylglutaconic aciduria type 4
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ablepharon macrostomia syndrome
Absence of Tibia with Congenital Deafness
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
Albinism Deafness Syndrome
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
asphyxiating thoracic dystrophy +
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant intellectual developmental disorder 22
autosomal dominant nonsyndromic deafness 65
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
Axial Mesodermal Dysplasia Spectrum
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 +
Birk-Landau-Perez Syndrome
Bloch-Sulzberger syndrome +
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Broad Terminal Phalanges, Familial
Burnett Schwartz Berberian Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
Cardioauditory Syndrome of Sanchez Cascos
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
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
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 and Familial Myoclonic Epilepsy
Congenital Deafness, with Vitiligo and Achalasia
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
Congenital Myopathy with Neuropathy and Deafness
congenital secretory sodium diarrhea 3
Cornelia de Lange syndrome +
Costocoracoid Ligament Congenitally Short
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
Davenport Donlan Syndrome
Deaf-Blind Disorders + The absence of both hearing and vision.
Deafness Hyperuricemia Neurologic Ataxia
Deafness with Anhidrotic Ectodermal Dysplasia
Deafness, Autosomal Dominant, due to Mutation In Myo1a
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Congenital Onychodystrophy, Recessive Form
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
deafness, dystonia, and cerebral hypomyelination
Deafness, Nephritis, Anorectal Malformation
Deafness, with Smith-Magenis Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Delayed Cranial Ossification due to CBFB Haploinsufficiency
Dincsoy Salih Patel Syndrome
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 7
Ectrodactyly Cardiopathy Dysmorphism
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital Syndrome
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
Glutamyl Ribose-5-Phosphate Storage Disease
Gomez Lopez Hernandez Syndrome
Gorlin Chaudhry Moss Syndrome
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
hand-foot-genital syndrome
Harrod Doman Keele Syndrome
Heart Defects Limb Shortening
hereditary spastic paraplegia 24
Hersh Podruch Weisskopk Syndrome
high myopia-sensorineural deafness syndrome
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hunter-Macdonald Syndrome
Hyperlipoproteinemia Type II, and Deafness
Hyperphosphatasia with Impaired Intellectual Development Syndrome +
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
Hypokalemic Tubulopathy and Deafness
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
Insulin-Like Growth Factor I, Resistance To
Iris Dysplasia Hypertelorism Deafness
Isolated Noncompaction of the Ventricular Myocardium +
ITM2B-related cerebral amyloid angiopathy 2
Jequier Kozlowski Skeletal Dysplasia
Johnson Neuroectodermal Syndrome
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Jung Wolff Back Stahl Syndrome
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Keratoconus Posticus Circumscriptus with Associated Malformations
Konigsmark Knox Hussels Syndrome
Kosaki Overgrowth Syndrome
Kozlowski Brown Hardwick 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
LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
Light Fixation Seizure Syndrome
linear nevus sebaceous syndrome +
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
Lynch Lee Murday syndrome
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Macrosomia with Lethal Microphthalmia
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
Marles Greenberg Persaud 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
Meyenburg-Altherr-Uehlinger Syndrome
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly Deafness Syndrome
Microcephaly Microphthalmos Blindness
Microcephaly Seizures Mental Retardation Heart Disorders
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-NEURODEVELOPMENTAL SYNDROME, X-LINKED
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple pterygium syndrome +
Multiple Synostoses Syndrome 1
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
Myoclonus, Cerebellar Ataxia, and Deafness
Myoectodermal Gonadal Dysgenesis Syndrome
Nablus Mask-Like Facial Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
Nephrosis with Deafness and Urinary Tract and Digital Malformations
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
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
Noninsulin-Dependent Diabetes Mellitus with Deafness
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Opticocochleodentate Degeneration
orofaciodigital syndrome +
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 +
Polycystic Kidney, Cataract, and Congenital Blindness
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
Pseudoaminopterin Syndrome
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
Ribbonlike Corneal Degeneration with Deafness
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
Schimke X-Linked Mental Retardation Syndrome
Schinzel-Giedion Syndrome
Schlegelberger Grote Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Scoliosis, Arachnodactyly, and Blindness
Seckel Like Syndrome Type Buebel
Secretory Diarrhea, Myopathy, and Deafness
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
Sinoatrial Node Dysfunction and Deafness
Smith-Lemli-Opitz syndrome +
spastic paraplegia with deafness
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
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
Teebi hypertelorism syndrome +
temtamy preaxial brachydactyly syndrome
Thomas Jewett Raines Syndrome
Thoracolaryngopelvic Dysplasia
Thymic Aplasia with Fetal Death
Tollner Horst Manzke Syndrome
Tricho-Dento-Osseous Syndrome 1
Triphalangeal Thumbs with Brachyectrodactyly
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
visual impairment and progressive phthisis bulbi
Walbaum Titran Durieux Crepin Syndrome
Weill-Marchesani syndrome +
Weyers acrofacial dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
White Forelock with Malformations
Wiedemann Grosse Dibbern Syndrome
Winter Harding Hyde Syndrome
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
X-linked mental retardation Gustavson type
X-linked mental retardation-hypotonic facies syndrome-1
X-linked retinitis pigmentosa and sinorespiratory infections
Yemenite Deaf-Blind Hypopigmentation Syndrome
Zadik Barak Levin Syndrome
Zimmerman Laband Syndrome +
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