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Ontology Browser

Term:
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face (DOID:9004772)
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Parent Terms Term With Siblings Child Terms
epilepsy +     
Facies +     
microcephaly +     
16p11.2 Deletion Syndrome  
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p deletion syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adducted Thumbs Syndrome +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation Syndrome  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia Contractures Dwarfism Mental Retardation 
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome  
alopecia-mental retardation syndrome +   
alpha thalassemia-intellectual disability syndrome type 1 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amish Lethal Microcephaly  
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Angelman syndrome  
Anisomastia 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, Mental Retardation, and Seizures  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
Au-Kline Syndrome  
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant mental retardation 20  
autosomal dominant mental retardation 49  
autosomal dominant mental retardation 50  
Autosomal Dominant Mental Retardation 60  
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
autosomal recessive spinocerebellar ataxia 12  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
Ayme-Gripp syndrome  
Baetz-Greenwalt syndrome 
Bamforth-Lazarus syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Behr syndrome  
Bellini Chiumello Rimoldi Syndrome 
Ben Ari Shuper Mimouni Syndrome 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Biemond Syndrome II 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
Birk-Barel syndrome  
Birk-Landau-Perez Syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Bohring Syndrome  
Boomerang dysplasia  
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Type A2, With Microcephaly 
Brachymesomelia Renal Syndrome 
Brachytelephalangy Characteristic Facies Kallmann 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
Broad Terminal Phalanges, Familial 
Brunner syndrome  
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
C syndrome  
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
cardiofaciocutaneous syndrome +   
Carney complex +   
Cartwright Nelson Fryns Syndrome 
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATIFA SYNDROME  
ceft palate, cardiac defects, and intellectual disabillity  
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
CHARGE syndrome  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS Syndrome  
Choroid Plexus Calcification with Mental Retardation 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q13.3 microdeletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 1q21.1 duplication syndrome 
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome 5p13 duplication syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Chudley-Rozdilsky Syndrome 
ciliopathy +   
CK Syndrome  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cockayne syndrome +   
Coffin Syndrome 1 
Coffin-Siris syndrome +   
Cohen syndrome  
Cohen-Gibson Syndrome  
cold-induced sweating syndrome +   
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
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 Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
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 secretory sodium diarrhea 3  
Congenital Symmetric Circumferential Skin Creases +   
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cyprus Facial Neuromusculoskeletal Syndrome 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Davis Lafer Syndrome 
De Hauwere syndrome 
De Sanctis-Cacchione Syndrome  
Deaf-Blind Disorders +   
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, Nephritis, Anorectal Malformation 
Deafness-Craniofacial Syndrome 
deafness-dystonia-optic neuronopathy syndrome  
deafness-intellectual disability, Martin-Probst type syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Der Kaloustian Mcintosh Silver Syndrome 
Desmosterolosis  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
dicarboxylic aminoaciduria  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dincsoy Salih Patel Syndrome 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
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 
DK Phocomelia Syndrome 
Donohue syndrome  
DOORS syndrome  
Down syndrome +   
Drug Resistant Epilepsy +   
Dubowitz 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 +   
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 9  
Early-Onset Epilepsy, Vitamin B6-Dependent  
EAST syndrome  
ectodermal dysplasia +   
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
electroclinical syndrome +   
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Emanuel Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
extratemporal epilepsy 
FACES Syndrome 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Febrile Seizures +   
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
Frontonasal Dysplasia 3  
Fryns Macrocephaly 
Fryns Syndrome 
Galloway-Mowat syndrome +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Garret Tripp Syndrome 
geleophysic dysplasia +   
Generalized Epilepsy +   
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Giacheti Syndrome 
Gillespie syndrome  
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Glutamyl Ribose-5-Phosphate Storage Disease 
Glycosylphosphatidylinositol Biosynthesis Defect 16  
Glycosylphosphatidylinositol Deficiency +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gorlin Chaudhry Moss Syndrome 
Granddad Syndrome 
Grant Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Halal Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
hand-foot-genital syndrome  
Hanhart Syndrome 
Harel-Yoon Syndrome  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
hereditary spastic paraplegia 11  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 32 
Hersh Podruch Weisskopk Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly 10 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hot Water Epilepsy +  
Hoyeraal Hreidarsson Syndrome  
Hunter-Macdonald Syndrome 
Hunter-McAlpine Syndrome 
Hydroxylysinuria 
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
Hyperphosphatasia with Mental Retardation +   
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
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 
hypotonia-cystinuria syndrome  
Ichthyosis and Male Hypogonadism 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
inclusion-cell disease  
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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 Macrocephaly, Seizures, and Speech Delay  
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 PERSISTENCE OF FETAL HEMOGLOBIN  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS  
intellectual developmental disorder with short stature and behavioral abnormalities  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
isolated cleft palate  
Isolated Noncompaction of the Ventricular Myocardium +   
Jagell Holmgren Hofer Syndrome 
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jorgenson Lenz Syndrome 
Joubert syndrome 1  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juberg Hayward Syndrome  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kifafa Seizure Disorder 
Kleefstra syndrome +   
Kleiner Holmes Syndrome 
Kohlschutter-Tonz syndrome  
Koolen de Vries syndrome  
Koone Rizzo Elias Syndrome 
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kuzniecky Andermann Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Lambert Syndrome 
Lambotte Syndrome 
Landau-Kleffner syndrome  
Larsen-Like Syndromes +   
Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation 
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Leri Pleonosteosis 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lung Agenesis +   
Luscan-Lumish syndrome  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lynch Lee Murday syndrome 
MacDermot Winter Syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malocclusion and Short Stature 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Melhem Fahl Syndrome 
MEND 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, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS  
Mental Retardation, Autosomal Recessive 8 
Mental Retardation, Buenos Aires Type 
Mental Retardation, Fra12a 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, Short Stature, Facial Anomalies, and Joint Dislocations  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Methionine Malabsorption Syndrome 
Michels Caskey Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
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 
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microspherophakia with Hernia 
Milner Khallouf Gibson Syndrome 
MIRAGE SYNDROME  
Mirhosseini-Holmes-Walton Syndrome 
Mobius syndrome +   
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME  
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple pterygium syndrome +   
Multiple Pterygium Syndrome, X-Linked 
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2  
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3  
muscular dystrophy-dystroglycanopathy type B6  
Myoclonic Epilepsies +   
Myotonia with Skeletal Abnormalities and Mental Retardation 
N syndrome 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neuhauser Syndrome 
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nijmegen Breakage Syndrome-Like Disorder  
non-syndromic intellectual disability +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
nonprogressive cerebellar ataxia with mental retardation  
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Ogden syndrome  
Ohdo syndrome +   
Okur-Chung Neurodevelopmental Syndrome  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Omodysplasia 2  
Onychotrichodysplasia and Neutropenia 
optic atrophy 10  
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome, Recessive 
Otoonychoperoneal Syndrome 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
parastremmatic dwarfism  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Patterson Pseudoleprechaunism Syndrome 
Pavone Fiumara Rizzo Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Perniola Krajewska Carnevale Syndrome 
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHGDH deficiency  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierson syndrome  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
polycystic kidney disease +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
porencephaly +   
postaxial acrofacial dysostosis  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
primary microcephaly +   
Primrose Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Proteus syndrome +   
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
prune belly syndrome +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
PSAT deficiency  
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
Pseudouridinuria and Mental Defect 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Qazi Markouizos 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 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Raine Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
Retinal Degeneration and Epilepsy 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Rudiger Syndrome 
Ruvalcaba Syndrome 
Ruzicka Goerz Anton syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
salt and pepper syndrome  
Sammartino De Crecchio Syndrome 
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia Mental Retardation 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Seizures, Cortical Blindness, and Microcephaly Syndrome  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Seow Najjar Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Singh Chhaparwal Dhanda Syndrome 
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Smith-Kingsmore Syndrome  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Snijders Blok-Campeau Syndrome  
Sotos syndrome +   
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Paraplegia, Epilepsy, Mental Retardation 
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY  
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Paresis, Glaucoma, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly  
Spinal Muscular Atrophy with Mental Retardation 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
status epilepticus +   
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Stromme syndrome  
STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
syndromic intellectual disability +   
syndromic microphthalmia 13  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Hedera type  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
Tatton-Brown-Rahman Syndrome  
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Tetrasomy X 
Thakker Donnai Syndrome 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
Thymic Aplasia with Fetal Death 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
Total Anonychia with Microcephaly 
Townes-Brocks syndrome +   
Tricho-Dento-Osseous Syndrome 1 
Trichodental Syndrome 
trichohepatoenteric syndrome +   
trichorhinophalangeal syndrome type III  
Trichothiodystrophy Syndromes +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Ulnar Hypoplasia with Mental Retardation 
ulnar-mammary syndrome  
Upton Young Syndrome 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
visceral heterotaxy +   
visual epilepsy +   
Vohwinkel syndrome  
Volcke Soekarman Syndrome 
Waardenburg's syndrome +   
WAGR syndrome +   
Waisman syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
WEBB-DATTANI SYNDROME  
Weill-Marchesani syndrome +   
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wittwer Syndrome  
Wolf-Hirschhorn syndrome  
Woodhouse-Sakati Syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
Worster Drought Syndrome  
WT Limb Blood Syndrome 
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
Yorifuji Okuno Syndrome 
YOU-HOOVER-FONG SYNDROME  
Young Hughes Syndrome 
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: MESH:C563342
Alternate IDs: OMIM:601352

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.