Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Cerebrooculofacioskeletal Syndrome 2 (DOID:9007127)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
16p11.2 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome +   
Absent Eyebrows and Eyelashes with Mental Retardation 
acrodysostosis +   
Adams Nance Syndrome 
AGAT deficiency  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
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-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 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
ARC syndrome +   
Arthrogryposis and Ectodermal Dysplasia 
arthrogryposis due to muscular dystrophy  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis Multiplex Congenita Whistling Face 
ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Arthrogryposis, X-Linked, Type V 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Asymmetric Short Stature Syndrome 
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 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  
Axenfeld-Rieger syndrome type 1  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters 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 
Bhaskar Jagannathan Syndrome 
Biemond Syndrome II 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bohring Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Boylan Dew Greco Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Cleft Anomalies 
Bresheck/Bresek Syndrome 
Bruck syndrome +   
Brunner syndrome  
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
Calvarial Hyperostosis 
Camera Marugo Cohen Syndrome 
CAMFAK Syndrome 
Camptodactyly Syndrome Guadalajara Type 2 
Camptodactyly-Ichthyosis Syndrome 
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 
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, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
Cerebellofaciodental Syndrome  
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Cerebral Visual Impairment and Intellectual Disability  
cerebrocostomandibular syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 1  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 3  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT 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 2p16.1-p15 deletion 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 
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cochlear Deafness with Myopia and Intellectual Impairment  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
cocoon syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Cohen Syndrome  
Cohen-Gibson Syndrome  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined oxidative phosphorylation deficiency 2  
Congenital Arthrogryposis with Anterior Horn Cell Disease  
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
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 Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Congenital Neuropathy with Arthrogryposis Multiplex 
Congenital Symmetric Circumferential Skin Creases +   
Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1A  
Cornea Guttata with Anterior Polar Cataract 
Cornelia de Lange syndrome +   
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis Mental Retardation Clefting Syndrome 
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crome Syndrome 
Crouzon syndrome +   
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Cubitus Valgus with Mental Retardation and Unusual Facies 
Curatolo Cilio Pessagno Syndrome 
Curly Hair-Acral Keratoderma-Caries 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 Sanctis-Cacchione Syndrome  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
deafness-dystonia-optic neuronopathy syndrome  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
diabetic cataract  
Diaphanospondylodysostosis  
dicarboxylic aminoaciduria  
Digitorenocerebral Syndrome  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
distal arthrogryposis +   
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
DNA ligase IV deficiency  
Donohue syndrome  
Down syndrome +   
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 Parkinsonism with Mental Retardation  
EAST syndrome  
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Edict Syndrome  
Ehlers-Danlos Syndrome, Musculocontractural Type 2  
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  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
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 
Feingold syndrome +   
Feingold Trainer Syndrome 
fetal akinesia deformation sequence syndrome +   
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  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontonasal Dysplasia 3  
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Garret Tripp Syndrome 
Geleophysic Dysplasia +   
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Genitopatellar Syndrome  
German Syndrome 
Gillespie Syndrome  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16  
Goldberg-Shprintzen syndrome  
Goldstein Hutt Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Gordon Syndrome  
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
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, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Gurrieri Sammito Bellussi Syndrome 
Hair Defect with Photosensitivity and Mental Retardation 
Hall Riggs Mental Retardation Syndrome 
Hamamy Syndrome  
Hanhart Syndrome 
HAREL-YOON SYNDROME  
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hecht Syndrome  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hennekam syndrome +   
hereditary neuropathy with liability to pressure palsies  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 9A  
Hittner Hirsch Kreh Syndrome 
holoprosencephaly +   
Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Hooft Disease 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Humeroradial Synostosis with Craniofacial Anomalies 
Hunter-McAlpine 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 +   
Hypertelorism +   
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  
Hypospadias-Mental Retardation Syndrome 
hypotonia-cystinuria syndrome  
Ichthyosis and Male Hypogonadism 
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Ichthyosis, Spastic Quadriplegia, and Mental Retardation  
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Infantile Hypotonia with Psychomotor Retardation +   
Infantile Multisystem Neurologic Disease with Osseous Fragility 
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 
Jequier Kozlowski Skeletal Dysplasia 
Johanson-Blizzard syndrome  
Johnston Aarons Schelley Syndrome 
Jones Hersh Yusk 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 +   
Klippel-Feil syndrome 4  
Koone Rizzo Elias Syndrome 
Kosztolanyi Syndrome 
Kozlowski Ouvrier Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Kuzniecky Andermann Syndrome 
Ladda Zonana Ramer syndrome 
Lambert Syndrome 
Larsen-like syndrome B3GAT3 type  
Leg, Absence Deformity of, with Congenital Cataract 
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
lethal congenital contracture syndrome +   
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Light Fixation Seizure Syndrome 
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lissencephaly 3 +   
Lissencephaly 4  
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Lubani Al Saleh Teebi Syndrome 
Lubinsky Syndrome 
Lujan Fryns Syndrome  
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macrocephaly +   
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Male Hypogonadism with Mental Retardation and Skeletal Anomalies 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Mandibulofacial Dysostosis with Mental Deficiency  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Marshall-Smith syndrome  
Martsolf syndrome  
MASA syndrome  
Massa Casaer Ceulemans Syndrome 
Maxillofacial Abnormalities +   
McDonough Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
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 +   
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 
Methionine Malabsorption Syndrome 
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly +   
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, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microphthalmia and Mental Deficiency 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Minicore Myopathy, Antenatal Onset, with Arthrogryposis 
Mirhosseini-Holmes-Walton Syndrome 
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  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
Multiple Pterygium Syndrome, Lethal Type  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
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 
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 
Nablus Mask-Like Facial Syndrome 
Nakamura Osame syndrome 
Nance-Horan syndrome  
Nathalie Syndrome 
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neuhauser Syndrome 
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
neurogenic arthrogryposis multiplex congenita +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
non-syndromic intellectual disability +   
nonprogressive cerebellar ataxia with mental retardation  
Noonan syndrome +   
O'Donnell Pappas Syndrome  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculomelic Amyoplasia  
Oculootofacial Dysplasia +   
Oculoskeletodental Syndrome  
Ohdo syndrome +   
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Oliver Syndrome 
Oliver-McFarlane syndrome  
Onychotrichodysplasia and Neutropenia 
Opitz Trigonocephaly Syndrome  
optic atrophy 10  
optic atrophy 3  
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
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 
Pashayan Syndrome 
Patella Hypoplasia Mental Retardation 
Pavone Fiumara Rizzo Syndrome 
Pelvic Dysplasia Arthrogryposis of Lower Limbs 
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
Perisylvian Syndrome +   
Perniola Krajewska Carnevale Syndrome 
Peters Anomaly with Cataract 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Photosensitive Trichothiodystrophy 1  
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Piussan Lenaerts Mathieu syndrome 
Plagiocephaly +   
Platybasia +  
Podder-Tolmie Syndrome 
Pointer Syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS  
Posterior Exchondrosis of Pinna 
posterior polar cataract  
Potato Nose  
Prader-Willi syndrome +   
Preauricular Fistulae, Congenital 
Premature Aging, Okamoto Type 
Prieto syndrome 
Primrose Syndrome  
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 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Qazi Markouizos syndrome 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rahman Syndrome  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Ray Peterson Scott Syndrome 
Reardon Hall Slaney 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 
Richards-Rundle Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Ritscher-Schinzel syndrome 2  
Roberts syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Robinow syndrome +   
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rud Syndrome 
Ruzicka Goerz Anton syndrome 
Sammartino De Crecchio Syndrome 
Sao Paulo MCA/MR Syndrome 
Say Meyer Syndrome 
SC phocomelia syndrome  
Scaphocephaly, Maxillary Retrusion, and Mental Retardation  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
Schofer Beetz Bohl Syndrome 
Scholte Syndrome 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Sclerosing Bone Dysplasia Mental Retardation 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel Syndrome 3 
Seckel syndrome 4  
Seemanova Lesny Syndrome 
Sener Syndrome 
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Shaheen Syndrome  
Short Stature and Facioauriculothoracic Malformations 
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Simpson-Golabi-Behmel syndrome type 1  
Singh Chhaparwal Dhanda 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 
Splenogonadal Fusion Limb Defects Micrognatia 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondyloocular Syndrome, Autosomal Recessive  
Spranger Schinzel Myers Syndrome 
Stevenson-Carey Syndrome 
Sucrosuria, Hiatus Hernia and Mental Retardation 
Supernumerary Der(22)t(8 
Sweeney-Cox syndrome  
syndromic intellectual disability +   
syndromic X-linked intellectual disability Abidi type 
Takenouchi-Kosaki Syndrome  
Tamari Goodman Syndrome 
TATTON-BROWN-RAHMAN SYNDROME  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temple-Baraitser syndrome  
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
Tenorio Syndrome  
Ter Haar Syndrome  
tetanic cataract 
Tetrasomy X 
THAUVIN-ROBINET-FAIVRE SYNDROME  
Tollner Horst Manzke Syndrome 
Tonoki Syndrome 
Tricho-Dento-Osseous Syndrome  
Trichodental Syndrome 
Tryptophanuria with Dwarfism 
Tsukahara Syndrome 
Ulnar Hypoplasia with Mental Retardation 
Upton Young Syndrome 
Urioste Martinez-Frias Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Den Bosch Syndrome 
Van Maldergem syndrome +   
Vasquez Hurst Sotos Syndrome 
Verheij Syndrome  
Verloes Gillerot Fryns Syndrome 
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
WAGR syndrome +   
Walker Dyson Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Wellesley Carmen French Syndrome 
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
Williams-Beuren syndrome +   
Winship Viljoen Leary Syndrome 
Winter Shortland Temple Syndrome  
Woodhouse-Sakati Syndrome  
Worster Drought Syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Yorifuji Okuno Syndrome 
Young Hughes Syndrome 
Zazam Sheriff Phillips Syndrome 
Zechi-Ceide Syndrome 
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome +   
Zonular Cataract and Nystagmus  
ZTTK Syndrome  
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: COFS2
Primary IDs: MESH:C565185
Alternate IDs: OMIM:610756 ;   RDO:0013902

paths to the root

NHLBI Logo

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