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Ontology Browser

Term:
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (DOID:9003367)
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Parent Terms Term With Siblings Child Terms
16p11.2 Deletion Syndrome  
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3p- syndrome 
Aase Smith Syndrome 
Abnormal Cortical Gyration  
Absent Eyebrows and Eyelashes with Mental Retardation 
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
acrodysostosis +   
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adams Nance Syndrome 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Akesson Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
AL-RAQAD SYNDROME  
Alacrima, Achalasia, and Mental Retardation 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 
Alpha-B Crystallinopathy with Cataract 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation 
Amyotrophic Dystonic Paraplegia 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Ansell Bywaters Elderking Syndrome 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis, Mental Retardation, and Seizures  
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 
Auriculoosteodysplasia 
autosomal dominant mental retardation 50  
autosomal recessive cutis laxa type III +   
autosomal recessive limb-girdle muscular dystrophy type 2P  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
Axial Mesodermal Dysplasia Spectrum 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Bainbridge-Ropers Syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr Syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bethlem myopathy +   
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Birk-Barel syndrome  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bohring Syndrome  
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
Borjeson-Forssman-Lehmann syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type E2  
branched-chain keto acid dehydrogenase kinase deficiency  
Bresheck/Bresek Syndrome 
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Capsule Opacification 
Cartwright Nelson Fryns Syndrome 
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 18  
cataract 19 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 34 multiple types  
cataract 35 
cataract 36  
cataract 37 
cataract 38  
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 40  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
Cataract 48  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Congenital Dominant Non Nuclear 
Cataract Hutterite Type  
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1 
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
Cataract, Floriform 
Cataract, Lamellar 2  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Cataract, Polymorphic and Lamellar 
Cataract, Posterior Polar, 5 
Cataract, Progressive Polymorphic Cortical 
Cataract, Pulverulent 
Cataract, Sutural, with Punctate and Cerulean Opacities  
Cataract, Variable Zonular Pulverulent 
Cataract, Zonular Central Nuclear 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cephalin Lipidosis 
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
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 
Chitty Hall Baraitser Syndrome 
Choroid Plexus Calcification with Mental Retardation 
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 1q21.1 duplication syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 2q32-q33 deletion syndrome  
chromosome 3q29 microdeletion syndrome 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Chudley-Rozdilsky Syndrome 
CK Syndrome  
Clark-Baraitser Syndrome 
cleft lip-palate-ectodermal dysplasia syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
CODAS syndrome  
Coffin Syndrome 1 
Cohen Syndrome  
Cohen-Gibson Syndrome  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
complex cortical dysplasia with other brain malformations 1  
Complex Cortical Dysplasia with Other Brain Malformations 10 
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
Complex Cortical Dysplasia with Other Brain Malformations 9  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Contractural Arachnodactyly  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Contractures, Torticollis, and Malignant Hyperthermia 
Congenital Ectodermal Dysplasia with Hearing Loss 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
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 Infantile Muscular Dystrophy with Cataract and Hypogonadism 
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 Symmetric Circumferential Skin Creases +   
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A  
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1B  
Cornea Guttata with Anterior Polar Cataract 
Corneal Cerebellar Syndrome 
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Cortical Dysplasia of Taylor without Balloon Cells 
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofaciofrontodigital Syndrome 
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crome Syndrome 
Crumpled Helices and Small Mouth 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Cutis Verticis Gyrata and Mental Deficiency 
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 
Daish Hardman Lamont Syndrome 
Davenport Donlan Syndrome 
Davis Lafer Syndrome 
De Sanctis-Cacchione Syndrome  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
Dermoids of Cornea 
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
Diabetic Bone Disease 
diabetic cataract  
dicarboxylic aminoaciduria  
Digitorenocerebral Syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Down syndrome +   
Dubowitz syndrome 
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave  
Duker Weiss Siber syndrome 
Dupuytren Contracture +  
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyschondrosteosis and Nephritis 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
Dystonia with Ringbinden 
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
EAST syndrome  
Ectodermal Dysplasia Mental Retardation Syndactyly 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Edict Syndrome  
Elliott Ludman Teebi Syndrome 
Emanuel Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Epilepsy Telangiectasia 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fallot Complex with Severe Mental and Growth Retardation 
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Osteochondritis Dissecans  
Feingold syndrome +   
Feingold Trainer Syndrome 
Female Athlete Triad Syndrome 
Fetal Growth Retardation +   
Fg Syndrome 5 
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Fitzsimmons Walson Mellor Syndrome 
Fitzsimmons-McLachlan-Gilbert syndrome 
Floating-Harbor syndrome  
Flynn Aird Syndrome 
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Frias Syndrome 
Friedreich ataxia +   
Frontonasal Dysplasia 3  
Galloway-Mowat syndrome +   
Game Friedman Paradice Syndrome 
Garret Tripp Syndrome 
Gay Feinmesser Cohen Syndrome 
Geleophysic Dysplasia +   
GEMSS Syndrome  
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
Gillespie Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
glucocorticoid-induced osteoporosis 
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
Goldstein Hutt Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis 
Goniodysgenesis-Mental Retardation-Short Stature 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, Alopecia, Pseudoanodontia and Optic Atrophy  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Gurrieri Sammito Bellussi Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hairy Elbows 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
HAREL-YOON SYNDROME  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heme Oxygenase 1 Deficiency  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 9A  
Hereditary Spinal Ataxia 
Hernandez Fragoso Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hip Contracture 
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydroxylysinuria 
hyperferritinemia-cataract syndrome  
Hyperleucine-Isoleucinemia 
Hyperlysinemia due to Defect in Lysine Transport into Mitochondria 
Hyperphosphatasia with Mental Retardation +   
Hypertrophic Neuropathy and Cataract 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 
Hypomagnesemia, Seizures, and Mental Retardation +   
hypomyelinating leukodystrophy 5  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypophosphatemic Nephrolithiasis/Osteoporosis +   
Hypospadias-Mental Retardation Syndrome 
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 
idiopathic juvenile osteoporosis  
Idiopathic Short Stature, X-Linked  
Iida Kannari Syndrome 
Inclusion Body Myopathy 3, Autosomal Dominant  
Indolylacroyl Glycinuria with Mental Retardation 
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 Multisystem Neurologic Disease with Osseous Fragility 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance To  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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 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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis  
isolated cleft palate  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
ITM2B-related cerebral amyloid angiopathy 2  
Jagell Holmgren Hofer Syndrome 
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 7  
Joubert syndrome 9  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kat6a Syndrome  
Katsantoni Papadakou Lagoyanni Syndrome 
KBG syndrome  
Keppen-Lubinsky Syndrome  
Khalifa Graham Syndrome 
Kleefstra syndrome +   
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Kuster Majewski Hammerstein Syndrome 
Kuzniecky Andermann Syndrome 
Ladda Zonana Ramer syndrome 
Lambert Syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy  
Leg, Absence Deformity of, with Congenital Cataract 
Lenz-Majewski hyperostotic dwarfism  
Leri-Weill dyschondrosteosis  
lethal congenital contracture syndrome 3  
lethal restrictive dermopathy  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lissencephaly 3 +   
Lissencephaly 4  
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macleod Fraser syndrome 
Macroepiphyseal Dysplasia, McAlister Coe Type 
Macrosomia Adiposa Congenita 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Madelung Deformity 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malformations of Cortical Development, Group I +   
Malformations of Cortical Development, Group II +   
Malformations of Cortical Development, Group III +   
Malocclusion and Short Stature 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf syndrome  
MASA syndrome  
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Megarbane Syndrome 
Meier-Gorlin 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 +   
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
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, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microdontia Hypodontia Short Stature 
Microphthalmia and Mental Deficiency 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
Miles-Carpenter syndrome  
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
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  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic cerebellar dyssynergia +  
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
Myotonia with Skeletal Abnormalities and Mental Retardation 
myotonic cataract 
N syndrome 
Nakamura Osame syndrome 
Nance-Horan syndrome  
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neuhauser Syndrome 
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurofaciodigitorenal Syndrome 
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Nijmegen Breakage Syndrome-Like Disorder  
Non-Lissencephalic Cortical Dysplasia 
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
O'Donnell Pappas Syndrome  
Occipital Cortical Malformations  
Oculoskeletodental Syndrome  
Ogden syndrome  
Ohdo syndrome +   
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oliver Syndrome 
Oliver-McFarlane syndrome  
olivopontocerebellar atrophy +   
Omodysplasia 1  
Onat Syndrome 
Onychotrichodysplasia and Neutropenia 
Opitz Trigonocephaly Syndrome  
optic atrophy 10  
optic atrophy 3  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Parastremmatic Dwarfism  
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Perniola Krajewska Carnevale Syndrome 
Peters Anomaly with Cataract 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Pili Torti Developmental Delay Neurological Abnormalities  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
plantar fascial fibromatosis 
Polycystic Kidney, Cataract, and Congenital Blindness 
Polydysspondyly 
Polymicrogyria with Optic Nerve Hypoplasia  
Polymicrogyria, Bilateral Frontoparietal  
Polymicrogyria, Bilateral Occipital  
Posterior Column Ataxia 
posterior polar cataract  
Postmenopausal Osteoporosis  
Prader-Willi Habitus, Osteopenia, and Camptodactyly 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
Primrose Syndrome  
Progeria Short Stature Pigmented Nevi 
Progeroid Syndrome, Congenital, Petty Type  
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
Proud Syndrome  
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation  
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Pseudoaminopterin Syndrome 
Pseudouridinuria and Mental Defect 
PSPH deficiency  
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Rajab Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Richards-Rundle Syndrome 
Ritscher-Schinzel syndrome 2  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruijs-Aalfs syndrome  
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Meyer Syndrome 
Say Syndrome 
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schizencephaly  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Sclerosing Bone Dysplasia Mental Retardation 
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Sengers syndrome  
senile cataract +   
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  
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, Severe Brachydactyly, and Syndactyly 
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SIDDIQI SYNDROME  
SIFRIM-HITZ-WEISS SYNDROME  
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda Syndrome 
Singleton Merten Syndrome +   
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slavotinek Pike Mills Hurst Syndrome 
Smith-Kingsmore Syndrome  
Snijders Blok-Campeau Syndrome  
Sonoda Syndrome 
spastic ataxia +   
Spastic Diplegia Infantile Type 
Spastic Paraplegia Epilepsy Mental Retardation 
Spastic Paraplegia, Ataxia, and 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 
Spinocerebellar Ataxia, Autosomal Recessive 3 
Spinocerebellar Ataxia, Autosomal Recessive 4  
Spinocerebellar Ataxia, X-Linked, 2 
Spinocerebellar Ataxia, X-Linked, 4 
Spinocerebellar Ataxias +   
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
spondyloepimetaphyseal dysplasia, Pakistani type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondyloocular Syndrome, Autosomal Recessive  
Spondylospinal Thoracic Dysostosis 
Stern Lubinsky Durrie Syndrome 
Stevenson-Carey Syndrome 
Stiff Skin Syndrome  
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
syndromic intellectual disability +   
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
TATTON-BROWN-RAHMAN SYNDROME  
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Tenorio Syndrome  
tetanic cataract 
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thrombocytopenia Robin Sequence 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tonoki Syndrome 
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Volkmann contracture 
WAGR syndrome +   
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wittwer Syndrome 
Woodhouse-Sakati Syndrome  
Worster Drought Syndrome  
X-linked Emery-Dreifuss muscular dystrophy 1  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
Zonular Cataract and Nystagmus  
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: MESH:C564264 ;   RDO:0013287

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