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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 +
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
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
arterial tortuosity syndrome
Arthrogryposis Epileptic Seizures Migrational Brain Disorder
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
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 +
Bird Headed Dwarfism Montreal Type
Birk-Landau-Perez Syndrome
Blepharoptosis, Myopia, and Ectopia Lentis
Bloch-Sulzberger syndrome +
Brachydactylous Dwarfism Mseleni Type
Brachydactyly, Intraventricular Septal Defect, and Deafness
Brachymesomelia Renal Syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brittle Cornea Syndrome +
Broad Terminal Phalanges, Familial
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
Cardiac, Facial, and Digital Anomalies with Developmental Delay
caudal regression syndrome
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
Chemke Oliver Mallek Syndrome
Chondrodysplasia Calcificans Metaphysealis
chondrodysplasia with joint dislocations gPAPP type
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
Cochlear Deafness with Myopia and Intellectual Impairment
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 Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital hypothyroidism +
congenital secretory sodium diarrhea 3
congenital stationary night blindness +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
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
Cutaneous Hemangiomatosis with Associated Features
Daish Hardman Lamont Syndrome
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
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
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
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/SHORT STATURE SYNDROME
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
External Ophthalmoplegia and Myopia
Facial Dysmorphism with Multiple Malformations +
Facio Thoraco Genital 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 Recurrent Dislocation of Patella
Familial Synovial Chondromatosis with Dwarfism
Feingold Trainer Syndrome
Femur Fibula Ulna Syndrome
Forney Robinson Pascoe Syndrome
Fraser Jequier Chen Syndrome
Fried Goldberg Mundel Syndrome
Gardner Morrisson Abbot Syndrome
GARG-MISHRA PROGEROID 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 Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
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 +
Hypomelia Mullerian Duct Anomalies
hypoparathyroidism-retardation-dysmorphism syndrome
Hypospadias-Mental Retardation Syndrome
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
Hypotonia, Seizures, and Precocious Puberty
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
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 Microphthalmia with Corectopia
Isolated Noncompaction of the Ventricular Myocardium +
Jequier Kozlowski Skeletal Dysplasia
JOINT LAXITY, SHORT STATURE, AND MYOPIA
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
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
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
megacystis-microcolon-intestinal hypoperistalsis syndrome +
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Menke-Hennekam Syndrome +
Mental Retardation, Buenos Aires Type
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
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, 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
Microspherophakia with Hernia
Mollica Pavone Antener Syndrome
Morillo-Cucci Passarge Syndrome
Mosaic Variegated Aneuploidy Syndrome 6
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 epiphyseal dysplasia with myopia and deafness
Myoectodermal Gonadal Dysgenesis Syndrome
Myopia 17, Autosomal Dominant
Myopia 18, Autosomal Recessive
Myopia 19, Autosomal Dominant
Myopia 20, Autosomal Dominant
Myopia 21, Autosomal Dominant
Myopia 22, Autosomal Dominant
Myopia 23, Autosomal Recessive
Myopia 24, Autosomal Dominant
Myopia 25, Autosomal Dominant
Myopia 26, X-Linked, Female-Limited
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 LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Neurofaciodigitorenal Syndrome
nevoid basal cell carcinoma syndrome +
Night Blindness Skeletal Anomalies Unusual Facies
Noble Bass Sherman Syndrome
Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
Noonan syndrome with multiple lentigines +
Oculocerebral Hypopigmentation Syndrome Type Preus
oculocerebrorenal syndrome +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Ohdo syndrome, SBBYS variant
Oliver-McFarlane syndrome
orofaciodigital syndrome +
otospondylomegaepiphyseal dysplasia, autosomal recessive
Palant Cleft Palate Syndrome
Pallister-Hall syndrome +
Panic Disorder with Joint Laxity
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 +
Polydactyly Myopia Syndrome
postaxial acrofacial dysostosis
Powell Chandra Saal Syndrome
Premature Aging, Okamoto Type
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Proportionate Dwarfism with Hip Dislocation
Pseudoaminopterin Syndrome
Pseudodiastrophic 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 +
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
Schrander-Stumpel Theunissen Hulsmans Syndrome
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
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Sinus Node Disease and Myopia
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Smith-Lemli-Opitz syndrome +
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
spondyloepimetaphyseal dysplasia with joint laxity +
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
spondylometaepiphyseal dysplasia, short limb-hand type
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 +
Tessadori-van Haaften Neurodevelopmental Syndrome 1
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
Triphalangeal Thumbs with Brachyectrodactyly
Tryptophanuria with Dwarfism
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
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
Zimmerman Laband Syndrome +
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