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16Q24.3 Microdeletion Syndrome
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Abderhalden-Kaufmann-Lignac Syndrome
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
Absent Eyebrows and Eyelashes with Mental Retardation
achalasia microcephaly syndrome
Acid-Labile Subunit Deficiency
acrocapitofemoral dysplasia
Acrocephalopolydactylous Dysplasia
Acromegaloid Facial Appearance Syndrome
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
Acrorenal Mandibular Syndrome
Acute Retroviral Syndrome
Adducted Thumbs Syndrome +
adult respiratory distress syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Aksu von Stockhausen Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Hirschsprung Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
alacrima, achalasia, and impaired intellectual development syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Albinism Deafness Syndrome
Alice in Wonderland Syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
Aloi Tomasini Isaia Syndrome
Alopecia Contractures Dwarfism Mental Retardation
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alopecia-mental retardation syndrome +
alpha thalassemia-intellectual disability syndrome type 1
alpha thalassemia-X-linked intellectual disability syndrome
Alves Castelo dos Santos Syndrome
Ameloonychohypohidrotic Syndrome
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
Amyotrophic Dystonic Paraplegia
androgen insensitivity syndrome +
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anophthalmia Plus Syndrome
Ansell Bywaters Elderking Syndrome
anterior spinal artery syndrome
antiphospholipid syndrome +
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Aphalangia Syndactyly Microcephaly
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
Arnold Stickler Bourne Syndrome
Arroyo Garcia Cimadevilla Syndrome
arterial tortuosity syndrome
Arthrogryposis, Impaired Intellectual Development, and Seizures
Asparagine Synthetase Deficiency
asphyxiating thoracic dystrophy +
Asrar Facharzt Haque Syndrome
Asymmetric Short Stature Syndrome
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
Ataxia-Microcephaly-Cataract Syndrome
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
Auriculocondylar Syndrome +
Ausems Wittebol-Post Hennekam Syndrome
Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant intellectual developmental disorder +
Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly
autosomal recessive cutis laxa type III +
autosomal recessive intellectual developmental disorder +
autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
autosomal recessive spinocerebellar ataxia 12
Axenfeld-Rieger syndrome +
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser Rodeck Garner syndrome
Baraitser-Winter syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
basilar artery insufficiency +
Bazex-Dupre-Christol Syndrome
Bazopoulou Kyrkanidou Syndrome
Beare-Stevenson cutis gyrata syndrome
Beaulieu-Boycott-Innes Syndrome
Beckwith-Wiedemann syndrome +
Beemer Ertbruggen Syndrome
Behrens Baumann Dust Syndrome
Bellini Chiumello Rimoldi Syndrome
Ben Ari Shuper Mimouni Syndrome
Benign Familial Macrocephaly
Bent Bone Dysplasia Syndrome +
Bernard-Soulier syndrome +
Bhaskar Jagannathan Syndrome
bilateral perisylvian polymicrogyria +
Birk-Landau-Perez Syndrome
blepharocheilodontic syndrome +
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
Blepharophimosis with Ptosis, Syndactyly, and Short Stature
blepharophimosis-impaired intellectual development syndrome
Blue Rubber Bleb Nevus Syndrome
Bobble-Head Doll Syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt Syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Boylan Dew Greco Syndrome
brachial plexus neuritis +
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
Brachymesomelia Renal Syndrome
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
brachyolmia-amelogenesis imperfecta syndrome
Braddock Carey Syndrome +
Brain-Lung-Thyroid Syndrome
branched-chain keto acid dehydrogenase kinase deficiency
Branchiogenic-Deafness Syndrome
branchiooculofacial syndrome
branchiootorenal syndrome +
Brown-Vialetto-Van Laere syndrome +
Bullous Dystrophy, Hereditary Macular Type
Burnett Schwartz Berberian Syndrome
Buschke-Ollendorff syndrome
Camera Marugo Cohen Syndrome
Camptodactyly Syndrome Guadalajara Type +
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-Ichthyosis Syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Cantalamessa Baldini Ambrosi Syndrome
Cantu Sanchez-Corona Fragoso Syndrome
capillary leak syndrome +
Cardiac-Urogenital Syndrome
Cardiofacioneurodevelopmental Syndrome
Cardiomyopathy Hypogonadism Collagenoma Syndrome
Carnevale Hernandez Castillo Syndrome
Carney-Stratakis syndrome
Cartilage Hair Hypoplasia Like Syndrome
Cartwright Nelson Fryns Syndrome
Cataract Microcornea Syndrome
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cayler Cardiofacial Syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
cerebellofaciodental syndrome
cerebral cavernous malformation 2
cerebral cavernous malformation 3
cerebral creatine deficiency syndrome +
Cerebral Visual Impairment and Intellectual Disability
cerebrocostomandibular syndrome
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Cerebrooculonasal Syndrome
Chang Davidson Carlson Syndrome
Chemke Oliver Mallek Syndrome
Childhood-Onset Chorea with Psychomotor Retardation
Chitayat Meunier Hodgkinson Syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Baraitser Syndrome
Chitty Hall Webb Syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Choroid Plexus Calcification with Mental Retardation
chromosomal deletion syndrome +
chromosomal duplication syndrome +
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
Chromosome 18 Pericentric Inversion
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
CHROMOSOME 2p16.3 DELETION SYNDROME
chromosome 2q31.2 deletion syndrome
chromosome 3q29 microdeletion syndrome
Chromosome 4, 4q Terminal Deletion Syndrome
Chromosome 6 Ring Syndrome
Chromosome 7 Ring Syndrome
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
chromosome 8q21.11 deletion syndrome
Chromosome Xp11.3 Deletion Syndrome
Chromosome Xq Duplication Syndrome
Chromosome Xq28 Duplication Syndrome
chronic atrial and intestinal dysrhythmia
Chudley-Mccullough syndrome
Chudley-Rozdilsky Syndrome
Circumvallate Placenta Syndrome
cleft lip-palate-ectodermal dysplasia syndrome
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
cleft palate-lateral synechia syndrome
Cleidorhizomelic Syndrome
Cochlear Deafness with Myopia and Intellectual Impairment
cold-induced sweating syndrome +
Cole-Carpenter syndrome +
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome +
complex regional pain syndrome +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Bone Marrow Failure Syndromes +
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital central hypoventilation syndrome +
congenital disorder of deglycosylation 2
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
Congenital Muscular Dystrophy plus Mental Retardation
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Pain Insensitivity +
Congenital Progeroid Syndrome, Petty Type
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Corneal Cerebellar Syndrome
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Corneodermatoosseous Syndrome
Coronary-Subclavian Steal Syndrome
corpus callosum agenesis-abnormal genitalia syndrome
Cortical Blindness, Retardation, and Postaxial Polydactyly
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
Craniofaciofrontodigital Syndrome
Craniofacioskeletal Syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
Craniomicromelic Syndrome
Craniosynostosis Mental Retardation Clefting Syndrome
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
Cree Mental Retardation Syndrome
crescentic glomerulonephritis
Crigler-Najjar syndrome +
Crouzon syndrome-acanthosis nigricans syndrome
Crumpled Helices and Small Mouth
Cryopyrin-Associated Periodic Syndromes +
Cryptomicrotia Brachydactyly Syndrome
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
Curatolo Cilio Pessagno Syndrome
Curly Hair-Acral Keratoderma-Caries Syndrome
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
Cutis Laxa-Marfanoid Syndrome
Cutis Verticis Gyrata and Mental Deficiency
Cyclic Vomiting Syndrome +
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Daneman Davy Mancer Syndrome
Davenport Donlan Syndrome
De Hauwere Leroy Adriaenssens syndrome
De Sanctis-Cacchione syndrome
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Congenital Onychodystrophy, Recessive Form
deafness, dystonia, and cerebral hypomyelination
Deafness, with Smith-Magenis Syndrome
Deafness-Craniofacial Syndrome
deafness-dystonia-optic neuronopathy syndrome
Deafness-Hypogonadism Syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Deafness-Oligodontia Syndrome
Deal Barratt Dillon Syndrome
Dennis Fairhurst Moore Syndrome
Der Kaloustian Mcintosh Silver Syndrome
Dermal Ridges, Nelson Syndrome
developmental and epileptic encephalopathy 9
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
Developmental Delay, Epilepsy, and Neonatal Diabetes
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
dialysis disequilibrium syndrome
Dianzani Autoimmune Lymphoproliferative Syndrome
Diarrhea prodrome + Hemolytic-Uremic Syndrome
dicarboxylic aminoaciduria
diffuse infiltrative lymphocytosis syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dincsoy Salih Patel Syndrome
diphthamide deficiency syndrome 1
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 7
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
Distal Transverse Limb Defects with Mental Retardation and Spasticity
Distal Trisomy 10q Syndrome
dominant optic atrophy plus syndrome
Drachtman Weinblatt Sitarz Syndrome
Drug Hypersensitivity Syndrome
Duane retraction syndrome +
Duane-radial ray syndrome
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave
Duker Weiss Siber syndrome
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dykes Markes Harper Syndrome
Dyschondrosteosis and Nephritis
Dyskinesias, Seizures, and Intellectual Developmental Disorder
Dysmyelination with Jaundice
dysplastic nevus syndrome
Ectodermal Dysplasia, Mental Retardation, Syndactyly
Ectodermal Dysplasia-Skin Fragility Syndrome
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly-Cleft Palate Syndrome
Edinburgh Malformation Syndrome
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
electroclinical syndrome +
Elliott Ludman Teebi Syndrome
Ellis Yale Winter Syndrome
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +
encephalopathy due to defective mitochondrial and peroxisomal fission 1
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
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
Failed Back Surgery Syndrome
Fallot Complex with Severe Mental and Growth Retardation
Familial Antiphospholipid Syndrome
Familial Convulsive Disorder with Prenatal or Early Onset
Familial Hyperchylomicronemia Syndrome
Fara Chlupackova Syndrome
Faye-Petersen Ward Carey Syndrome
Feingold Trainer Syndrome
Feline Acquired Immunodeficiency Syndrome
Female Athlete Triad Syndrome
Femur Fibula Ulna Syndrome
FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
Fetal Growth Retardation +
Fetal Inflammatory Response Syndrome
Fetal Trimethadione Syndrome
fibrogenesis imperfecta ossium
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fitz-Hugh-Curtis Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Fitzsimmons-McLachlan-Gilbert syndrome
Focal Epilepsy with Speech Disorder and with or without Mental Retardation
Foix-Chavany-Marie Syndrome
Forney Robinson Pascoe Syndrome
Forsythe-Wakeling Syndrome
Fraser Jequier Chen Syndrome
Freeman-Sheldon syndrome +
Freire-Maia Odontotrichomelic Syndrome
Fried Goldberg Mundel Syndrome
Frints De Smet Fabry Fryns Syndrome
Fryns Hofkens Fabry Syndrome
Fuchs' heterochromic uveitis
Furukawa Takagi Nakao Syndrome
GABRIELE-DE VRIES SYNDROME
Galloway-Mowat syndrome +
Game Friedman Paradice Syndrome
Gamstorp-Wohlfart syndrome
Gardner Morrisson Abbot Syndrome
Gay Feinmesser Cohen Syndrome
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Ghose Sachdev Kumar Syndrome
Gilles de la Tourette syndrome +
Gingival Fibromatosis with Hypertrichosis and Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
glucose transporter type 1 deficiency syndrome +
glycogen storage disease IX +
Glycosylphosphatidylinositol Biosynthesis Defect 15
Goldberg-Shprintzen syndrome
Goldblatt Viljoen Syndrome
Gomez Lopez Hernandez Syndrome
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
Green Sandford Davison Syndrome
Greig cephalopolysyndactyly syndrome
Groll Hirschowitz Syndrome
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Mental Deficiency Syndrome of Myhre
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
Grubben de Cock Borghgraef Syndrome
Guillain-Barre syndrome +
Gurrieri Sammito Bellussi Syndrome
Hagemoser Weinstein Bresnick Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Halal Setton Wang Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff syndrome +
Hamanishi Ueba Tsuji Syndrome
Hamano Tsukamoto Syndrome
Hand-Arm Vibration Syndrome
hand-foot-genital syndrome
Hantavirus hemorrhagic fever with renal syndrome +
hantavirus pulmonary syndrome
Hapnes Boman Skeie Syndrome
Harrod Doman Keele Syndrome
Hashimoto-Pritzker Syndrome
Haspeslagh Fryns Muelenaere Syndrome
HEART AND BRAIN MALFORMATION SYNDROME
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Heme Oxygenase 1 Deficiency
hemolytic-uremic syndrome +
Hemorrhagic Shock and Encephalopathy Syndrome
Hengel-Maroofian-Schols syndrome
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome +
hereditary fructose intolerance syndrome
Hereditary Neoplastic Syndromes +
hereditary spastic paraplegia 11
hereditary spastic paraplegia 14
hereditary spastic paraplegia 18
hereditary spastic paraplegia 32
hereditary spastic paraplegia 9A
Hernandez Aguirre-Negrete Syndrome
Hernandez Fragoso Syndrome
Hersh Podruch Weisskopf Syndrome
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
high myopia-sensorineural deafness syndrome
high pressure neurological syndrome
histiocytosis-lymphadenopathy plus syndrome
Hittner Hirsch Kreh Syndrome
HIV-Associated Lipodystrophy Syndrome
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
Holzgreve-Wagner-Rehder syndrome
Hordnes Engebretsen Knudtson syndrome
Hoyeraal Hreidarsson Syndrome
Humeroradial Multiple Synostosis Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter-Macdonald Syndrome
Huntington's Disease-Like Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
hypereosinophilic syndrome +
hyperferritinemia-cataract syndrome
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
Hyperimmunoglobulin G1(A1) Syndrome
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperleucine-Isoleucinemia
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
hypogonadotropic hypogonadism 23 with or without anosmia
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY +
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic or aplastic tibia with polydactyly
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Hypospadias-Mental Retardation Syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Ichthyosis and Male Hypogonadism
Ichthyosis Cheek Eyebrow Syndrome
Ichthyosis Prematurity Syndrome
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Ichthyosis, Spastic Quadriplegia, and Mental Retardation
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immune Reconstitution Inflammatory Syndrome
Impaired intellectual development, anterior maxillary protrusion, and strabismus
inappropriate ADH syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
Incomplete Sertoli Cell-Only Syndrome
Indolylacroyl Glycinuria with Mental Retardation
infancy electroclinical syndrome +
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebellar-retinal degeneration
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
Infantile Hypotonia with Psychomotor Retardation +
infantile liver failure syndrome +
Infantile Multisystem Neurologic Disease with Osseous Fragility
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
Intellectual Developmental Disorder with Autism and Dysmorphic Facies
Intellectual Developmental Disorder with Autism and Macrocephaly
Intellectual Developmental Disorder with Autism and Speech Delay
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
Intellectual Developmental Disorder with Seizures and Language Delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
intellectual disability and myopathy syndrome
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
Iridocorneal Endothelial Syndrome +
iridogoniodysgenesis syndrome +
Islet Cell Tumor Syndrome
Isodicentric Chromosome 15 Syndrome
Isotretinoin Embryopathy Like Syndrome
Jagell Holmgren Hofer Syndrome
Johanson-Blizzard syndrome
Johnston-Aarons-Schelley Syndrome
Jones Hersh Yusk Syndrome
Judge Misch Wright Syndrome
Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
Jung Wolff Back Stahl Syndrome
Kahn-Kahn-Katsanis Syndrome
Kaler Garrity Stern Syndrome
Kantaputra Gorlin Syndrome
Kaplan Plauchu Fitch Syndrome
Kaplowitz Bodurtha syndrome
Karandikar Maria Kamble Syndrome
Kasabach-Merritt Syndrome +
Kashani Strom Utley Syndrome
Kasznica Carlson Coppedge Syndrome
Katsantoni Papadakou Lagoyanni Syndrome
Kaufman oculocerebrofacial syndrome
Kennerknecht Sorgo Oberhoffer Syndrome
Keratitis-Ichthyosis-Deafness Syndrome +
Kleeblattschaedel Syndrome
Klippel-Trenaunay syndrome
Kniest Like Dysplasia Lethal
Kocher-Debre-Semelaigne Syndrome
Kohlschutter-Tonz syndrome
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Konigsmark Knox Hussels Syndrome
Koone Rizzo Elias Syndrome
Kosaki Overgrowth Syndrome
Kousseff Nichols Syndrome
Kozlowski Brown Hardwick Syndrome
Kozlowski Ouvrier Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Tsuruta Taki Syndrome
Kozlowski Warren Fisher Syndrome
Kozlowski-Krajewska Syndrome
Krauss Herman Holmes Syndrome
Kuster Majewski Hammerstein Syndrome
Kuzniecky Andermann Syndrome
Lachiewicz Sibley Syndrome
Ladda Zonana Ramer Syndrome
Langer Mesomelic Dysplasia
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
lateral medullary syndrome +
lateral meningocele syndrome
Laurence Prosser Rocker Syndrome
Le Marec Bracq Picaud Syndrome
Leichtman Wood Rohn Syndrome
Lenz-Majewski hyperostotic dwarfism
Leri-Weill dyschondrosteosis
lethal congenital contracture syndrome +
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
LONG-OLSEN-DISTELMAIER SYNDROME
loose anagen hair syndrome +
Lopes-Maciel-Rodan Syndrome
Lubani Al Saleh Teebi Syndrome
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
Lutz Richner Landolt Syndrome
Lymphedema, Cardiac Septal Defects, and Characteristic Facies
lymphedema-distichiasis syndrome +
Lynch Lee Murday syndrome
Maccario Mena Weir Syndrome
MacDermot Winter Syndrome
MacKay Shek Carr Syndrome
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
macrocephaly-autism syndrome
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Macrophage Activation Syndrome
Macrosomia Adiposa Congenita
Macrosomia Obesity Macrocephaly Ocular Abnormalities
Malabsorption Syndromes +
Male Hypogonadism with Mental Retardation and Skeletal Anomalies
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Malignant Carcinoid Syndrome +
Malocclusion and Short Stature
Mammary-Digital-Nail Syndrome
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
mandibulofacial dysostosis with alopecia
Mandibulofacial Dysostosis with Mental Deficiency
mandibulofacial dysostosis, Guion-Almeida type
MARBACH-RUSTAD PROGEROID SYNDROME
Marfanoid Hypermobility Syndrome
Marfanoid Mental Retardation Syndrome, Autosomal
Marinesco-Sjogren syndrome
Marles Greenberg Persaud Syndrome
Maroteaux Fonfria Syndrome
Martinez Monasterio Pinheiro Syndrome
Massa Casaer Ceulemans Syndrome
Maternally Inherited Leigh Syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
McPherson Robertson Cammarano Syndrome
Meacham Winn Culler Syndrome
Meckel-Like Cerebrorenodigital Syndrome
meconium aspiration syndrome
Medial Medullary Syndrome
Medial Tibial Stress Syndrome
median arcuate ligament syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephalic leukoencephalopathy with subcortical cysts 2B
Megalencephaly - Cutis Marmorata Telangiectatica Congenita
Megalencephaly with Dysmyelination
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
Megalencephaly-Polydactyly Syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +
Mehta Lewis Patton Syndrome
melanoma and neural system tumor syndrome
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal syndrome
Mengel Konigsmark Syndrome
Menke-Hennekam Syndrome +
Mental and Growth Retardation with Amblyopia
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation Associated with Psoriasis
Mental Retardation Mietens Weber Type
Mental Retardation Smith Fineman Myers Type
Mental Retardation Spasticity Ectrodactyly
Mental Retardation Syndrome, Belgian Type
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
Mental Retardation with Spastic Paraplegia
Mental Retardation Wolff Type
Mental Retardation, Buenos Aires Type
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
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
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Merlob Grunebaum Reisner Syndrome
Mesomelia-Synostoses Syndrome
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Methionine Malabsorption Syndrome
Meyenburg-Altherr-Uehlinger Syndrome
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Albinism Digital Anomalies Syndrome
Microcephaly and Chorioretinopathy +
Microcephaly Deafness Syndrome
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly Sparse Hair Mental Retardation Seizures
Microcephaly with Cervical Spine Fusion Anomalies
Microcephaly with Mental Retardation and Digital Anomalies
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
Microcephaly, Epilepsy, and Diabetes Syndrome +
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +
Microcephaly, Macrotia, and Mental Retardation
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Microcephaly-Capillary Malformation Syndrome
microcephaly-micromelia syndrome
Microdontia Hypodontia Short Stature
Microphthalmia and Mental Deficiency
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miles-Carpenter syndrome +
Milner Khallouf Gibson Syndrome
Mirhosseini-Holmes-Walton Syndrome
mitochondrial DNA depletion syndrome 8A
Mitochondrial Myopathy with Lactic Acidosis
mitochondrial pyruvate carrier deficiency
mixed connective tissue disease
Mollica-Pavone-Antener Syndrome
Mononen-Karnes-Senac syndrome
Morillo-Cucci Passarge Syndrome
mosaic variegated aneuploidy syndrome +
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
Mousa Al din Al Nassar Syndrome
Mucopolysaccharidosis-Plus Syndrome
Mulchandani-Bhoj-Conlin syndrome
Muller Barth Menger Syndrome
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple benign circumferential skin creases on limbs +
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
multiple epiphyseal dysplasia with myopia and deafness
multiple mitochondrial dysfunctions syndrome +
multiple synostoses syndrome +
multiple system atrophy +
Multisystemic Smooth Muscle Dysfunction Syndrome
Murine Acquired Immunodeficiency Syndrome
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B6
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
myelodysplastic syndrome +
myeloid leukemia associated with Down Syndrome
Myoectodermal Gonadal Dysgenesis Syndrome
myofascial pain syndrome +
Myopathy, Cataract, Hypogonadism Syndrome
Myotonia with Skeletal Abnormalities and Mental Retardation
Naguib-Richieri-Costa Syndrome
Nasopalpebral Lipoma Coloboma Syndrome
neonatal abstinence syndrome
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
Neonatal Zinc Deficiency due to Low Breast Milk Zinc
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
nerve compression syndrome +
Neuhauser Daly Magnelli Syndrome
Neuhauser Eichner Opitz Syndrome
Neurocutaneous Syndromes +
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
neurodevelopmental disorder with hypotonia and speech delay
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
neurodevelopmental disorder with poor growth and behavioral abnormalities
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
neurodevelopmental disorder with spasticity and poor growth
Neurofaciodigitorenal Syndrome
neurooculocardiogenitourinary syndrome
Neutropenic Enterocolitis
NF1 Microduplication Syndrome
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome +
Nijmegen Breakage Syndrome-Like Disorder
Noble Bass Sherman Syndrome
Non Ketotic Hyperglycinemia Syndrome
non-syndromic intellectual disability +
non-syndromic X-linked intellectual disability 93
Nonkeratan-Sulfate-Excreting Morquio Syndrome
nonprogressive cerebellar ataxia with mental retardation
Noonan syndrome with multiple lentigines +
O'Donnell-Luria-Rodan Syndrome
Obesity Hypoventilation Syndrome
Occipital Cortical Malformations
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculocerebrorenal syndrome +
oculocutaneous albinism +
Oculodental Syndrome Rutherfurd Syndrome
oculodentodigital dysplasia +
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
Odontoma Dysphagia Syndrome
Odontotrichoungual-Digital-Palmar Syndrome
Okur-Chung Neurodevelopmental Syndrome
Oligodontia-Colorectal Cancer Syndrome
Oliver-McFarlane syndrome
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Onychotrichodysplasia and Neutropenia
Opitz Reynolds Fitzgerald syndrome
Opsoclonus-Myoclonus Syndrome +
Optic Atrophy Spastic Paraplegia Syndrome
ornithine translocase deficiency
orofaciodigital syndrome +
Osebold Skeletal Dysplasia Osteolysis Syndrome
Osteolysis Syndrome, Recessive
Osteootohepatoenteric Syndrome
Osteopenic Nonfracture Syndrome
osteoporosis-pseudoglioma syndrome
Otofacioosseous-Gonadal Syndrome
Otoonychoperoneal Syndrome
ovarian hyperstimulation syndrome
overactive bladder syndrome
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
Palant Cleft Palate Syndrome
Pallister Killian Syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
Parana Hard Skin Syndrome
Paraneoplastic Syndromes +
Parenti-Mignot Neurodevelopmental Syndrome
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
Partial Duplication 15q Syndrome
partial fetal alcohol syndrome
Partial Trisomy 3q Syndrome
Partington Anderson Syndrome
Pascual Castroviejo Syndrome
Patella Hypoplasia Mental Retardation
patellofemoral pain syndrome
Patterson Pseudoleprechaunism Syndrome
Patterson Stevenson Syndrome
Pavone Fiumara Rizzo Syndrome
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
periodic limb movement disorder
Perniola Krajewska Carnevale Syndrome
persistent fetal circulation syndrome
persistent Mullerian duct syndrome
Petty Laxova Wiedemann Syndrome
Pfeiffer Kapferer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Rockelein Syndrome
Pfeiffer Tietze Welte Syndrome
Pheochromocytoma Islet Cell Tumor Syndrome
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
photosensitive trichothiodystrophy 1
Piepkorn Karp Hickok syndrome
pigment dispersion syndrome
Pilarowski-Bjornsson Syndrome
Pili Torti, Developmental Delay, Neurological Abnormalities
Pinheiro Freire-Maia Miranda Syndrome
Piriformis Muscle Syndrome +
Pituitary Stalk Interruption Syndrome
Piussan Lenaerts Mathieu syndrome
plasminogen deficiency type I
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
polycystic ovary syndrome +
Polydactyly Myopia Syndrome
Polydactyly-Macrocephaly Syndrome
Polyendocrine-Polyneuropathy Syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
Polyosteolysis-Hyperostosis Syndrome
Porcine Postweaning Multisystemic Wasting Syndrome
Porcine Reproductive and Respiratory Syndrome
PORETTI-BOLTSHAUSER SYNDROME
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
postcholecystectomy syndrome
Posterior Leukoencephalopathy Syndrome
postgastrectomy syndrome +
Postpericardiotomy Syndrome
postpoliomyelitis syndrome
postural orthostatic tachycardia syndrome
Poult Enteritis Mortality Syndrome
Powell Chandra Saal Syndrome
Powell Venencie Gordon syndrome
Prata Libéral Gonçalves Syndrome
Pre-Excitation Syndromes +
Preeyasombat Varavithya Syndrome
Premature Aging, Okamoto Type
Presumed Ocular Histoplasmosis Syndrome
primary hypertrophic osteoarthropathy +
primary immunodeficiency disease +
Progeria Short Stature Pigmented Nevi
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
progressive osseous heteroplasia
Progressive Vitiligo with Mental Retardation and Urethral Duplication
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
Propofol Infusion Syndrome
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome +
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Pseudo-Zellweger Syndrome
Pseudoaminopterin Syndrome
Pseudouridinuria and Mental Defect
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Radioulnar Synostosis Retinal Pigment Abnormalities
Rajab Interstitial Lung Disease with Brain Calcifications +
Rajab Interstitial Lung Disease with Brain Calcifications 1
Ramos Arroyo Clark Syndrome
Rasmussen Johnsen Thomsen Syndrome
Ray Peterson Scott Syndrome
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Reginato Schiapachasse Syndrome
Renal Dysplasia - Limb Defects Syndrome
Renal Nutcracker Syndrome
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
Retinohepatoendocrinologic Syndrome
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Richieri Costa Da Silva Syndrome
Richieri Costa Guion-Almeida Syndrome
Richieri Costa Pereira Syndrome
Ridges-off-the-end Syndrome
Ring Chromosome 14 Syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 4 Syndrome
Ritscher-Schinzel syndrome 2
Robin Sequence with Distinctive Facial Appearance and Brachydactyly
Robinson Miller Bensimon Syndrome
Roifman-Chitayat Syndrome
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
Rommen Mueller Sybert Syndrome
Rosenthal-Kloepfer Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson syndrome +
Rowley-Rosenberg Syndrome
Roy Maroteaux Kremp Syndrome
Rozin Hertz Goodman Syndrome
Rubinstein Taybi like Syndrome
Rubinstein-Taybi syndrome +
Ruvalcaba Churesigaew Myhre Syndrome
Ruzicka Goerz Anton syndrome
Sackey Sakati Aur Syndrome
Saito Kuba Tsuruta Syndrome
Sammartino De Crecchio Syndrome
Sanderson Fraser Syndrome
Sandestig-Stefanova syndrome
Sandhaus Ben-Ami Syndrome
Santos Mateus Leal Syndrome
Sao Paulo MCA/MR Syndrome
SATB2-associated syndrome
Say Field Coldwell Syndrome
Say-Barber-Miller Syndrome
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Schimke X-Linked Mental Retardation Syndrome
Schinzel Giedion syndrome
Schlegelberger Grote Syndrome
Schofer Beetz Bohl Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schuurs-Hoeijmakers syndrome
Schwartz Cohen-Addad Lambert Syndrome
Schwartz-Jampel syndrome 1
Schweitzer Kemink Graham Syndrome
Sclerosing Bone Dysplasia, Mental Retardation
Sd(a) POLYAGGLUTINATION SYNDROME
seasonal affective disorder
Second Metatarsal-Metacarpal Syndrome
Seizures, Cortical Blindness, and Microcephaly Syndrome
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Selig Benacerraf Greene Syndrome
Sensorineural Deafness and Migraine
sepiapterin reductase deficiency
Seres-Santamaria Arimany Muniz Syndrome
Sertoli cell-only syndrome +
Sessile Serrated Polyposis Cancer Syndrome
severe acute respiratory syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
Sharma Kapoor Ramji Syndrome
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
Short Stature Syndrome, Brussels Type
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
Short Stature-Obesity Syndrome
shoulder impingement syndrome
SHOX-related short stature
Shprintzen Omphalocele Syndrome
Siegler Brewer Carey Syndrome
Sifrim-Hitz-Weiss syndrome
Silengo Lerone Pelizza Syndrome
Silver-Russell syndrome +
Silver-Russell Syndrome 3
Simian Acquired Immunodeficiency Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Singh Chhaparwal Dhanda Syndrome
Singleton Merten Syndrome +
Sjogren-Larsson syndrome +
Sjogren-Larsson-like Syndrome
Sjögren-Mikulicz Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Sketetal Dysplasia Coarse Facies Mental Retardation
Skraban-Deardorff Syndrome
Slavotinek Pike Mills Hurst Syndrome
Smith-Lemli-Opitz syndrome +
Snijders Blok-Campeau Syndrome
Spastic Diplegia Infantile Type
Spastic Paraplegia and Evans Syndrome
spastic paraplegia with deafness
Spastic Paraplegia, Ataxia, and Mental Retardation
Spastic Paraplegia, Epilepsy, Mental Retardation
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
Spastic Paresis, Glaucoma, and Mental Retardation
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
Spinal Muscular Atrophy with Mental Retardation
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis 1
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia tarda with intellectual disability
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaphyseal dysplasia corner fracture type
Spranger Schinzel Myers Syndrome
Stankiewicz-Isidor Syndrome
Stern Lubinsky Durrie Syndrome
Stocco Dos Santos type X-linked intellectual disability
Stoelinga-de Koomen-Davis Syndrome
Stolerman neurodevelopmental syndrome
Stoll Alembik Dott Syndrome
Stoll Levy Francfort Syndrome
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
Structural Heart Defects and Renal Anomalies Syndrome
Stuve-Wiedemann Syndrome +
subclavian steal syndrome
Sucrosuria, Hiatus Hernia and Mental Retardation
sudden infant death syndrome +
Sudden Unexpected Nocturnal Death Syndrome
SULEIMAN-EL-HATTAB SYNDROME
superior mesenteric artery syndrome +
Superior Vena Cava Syndrome
Supernumerary Der(22)t(8;22) Syndrome
supine hypotensive syndrome
Syndactyly-Polydactyly-Earlobe Syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic intellectual disability +
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Turner type
Synostosis of Talus and Calcaneus with Short Stature
Systemic Inflammatory Response Syndrome +
Takenouchi-Kosaki Syndrome
TANGO2-related metabolic encephalopathy and arrythmias
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome +
Teebi Naguib Al Awadi syndrome
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temple-Baraitser syndrome
Temporomandibular Joint Dysfunction Syndrome
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
tethered spinal cord syndrome
Tetraphocomelia-Thrombocytopenia Syndrome
Thai Symphalangism Syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)
Theodor Hertz Goodman Syndrome
thiamine-responsive megaloblastic anemia syndrome
Thomas Jewett Raines Syndrome
Thompson Baraitser Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thrombocytopenia Absent Ulnar Syndrome
Thumb Agenesis, Short Stature, and Immunodeficiency
Thyrocerebral-Retinal Syndrome
thyroid hormone resistance syndrome +
Tn polyagglutination syndrome
Tolchin-Le Caignec Syndrome
Tollner Horst Manzke Syndrome
Tranebjaerg Svejgaard syndrome
Treacher Collins syndrome +
Treft Sanborn Carey Syndrome
trichodontoosseous syndrome
trichohepatoenteric syndrome +
Trichohepatoneurodevelopmental Syndrome
Trichorhinophalangeal Syndrome +
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Trueb Burg Bottani Syndrome
Tryptophanuria with Dwarfism
Tumor Predisposition Syndrome +
Tunglang Savage Bellman Syndrome
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Hypoplasia with Mental Retardation
Uncombable Hair Syndrome +
Urban Schosser Spohn Syndrome
Urioste Martinez-Frias Syndrome
Uruguay faciocardiomusculoskeletal syndrome
uveal coloboma-cleft lip and palate-intellectual disability
Van Bogaert-Hozay Syndrome
Van den Ende-Gupta syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Vasquez Hurst Sotos Syndrome
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Velofacioskeletal Syndrome
ventriculomegaly - cystic kidney disease
Verloes Gillerot Fryns Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove-Vanhorick Brubakk Syndrome
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency +
Vertebral Body Fusion Overgrowth
vertebral hypersegmentation and orofacial anomalies
Viljoen Kallis Voges Syndrome
Vogt-Koyanagi-Harada disease
Volcke Soekarman Syndrome
Walbaum Titran Durieux Crepin Syndrome
Walker-Warburg syndrome +
Warburton Anyane Yeboa Syndrome
Waterhouse-Friderichsen syndrome +
Weill-Marchesani syndrome +
Weill-Marchesani Syndrome 2
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller syndrome +
Wellesley Carmen French Syndrome
Weyers Ulnar Ray/Oligodactyly Syndrome
Whyte Murphy Fallon Sly syndrome
Wiedemann Grosse Dibbern Syndrome
Wiedemann Oldigs Oppermann Syndrome
Wiedemann-Steiner syndrome
Williams-Beuren syndrome +
Winship Viljoen Leary Syndrome
Winter Harding Hyde Syndrome
Winter Shortland Temple Syndrome
Wolcott-Rallison syndrome
Woodhouse-Sakati syndrome
Woods Black Norbury Syndrome
Woods Leversha Rogers Syndrome
X-Linked Intellectual Developmental Disorders +
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked mental retardation-hypotonic facies syndrome-1
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked VACTERL association
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yoon-Bellen neurodevelopmental syndrome
YUKSEL-VOGEL-BAUER SYNDROME
Zadik Barak Levin Syndrome
Zazam Sheriff Phillips Syndrome
Zerres Rietschel Majewski Syndrome
Zika virus congenital syndrome
Zimmerman Laband Syndrome +
Zori Stalker Williams Syndrome
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