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Term:
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance (DOID:9001529)
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Parent Terms Term With Siblings Child Terms
cataract +     
Facies +     
Hearing Loss +     
microcephaly +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome +   
3MC syndrome 3  
3p- syndrome 
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Adams Nance Syndrome 
Adducted Thumbs Syndrome +   
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome 
AL-RAQAD SYNDROME  
Alagille syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alpha-B Crystallinopathy with Cataract 
Amish Lethal Microcephaly  
Angelman syndrome  
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Anisomastia 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
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, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia-Microcephaly-Cataract Syndrome 
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 22  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axial Mesodermal Dysplasia Spectrum 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Bamforth-Lazarus syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Beckwith-Wiedemann syndrome +   
Beemer Ertbruggen Syndrome 
Behr Syndrome  
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bhaskar Jagannathan Syndrome 
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
BIRK-LANDAU-PEREZ SYNDROME  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Bloch-Sulzberger syndrome +   
Bloom syndrome  
Boomerang dysplasia  
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 
Branchial Arch Syndrome X-Linked 
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Brunoni Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-Mckeown Syndrome  
Burnett Schwartz Berberian Syndrome +   
CAHMR Syndrome 
CAMFAK Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Capsule Opacification 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY  
cardiofaciocutaneous syndrome +   
Carney complex +   
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  
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebrofaciothoracic Dysplasia  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
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  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 13q14 deletion syndrome  
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 19q13.11 deletion syndrome 
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 deletion syndrome, distal  
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 6pter-p24 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
ciliopathy +   
CK Syndrome  
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
COACH Syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cockayne syndrome +   
Coffin-Siris syndrome +   
Cohen Syndrome  
cold-induced sweating syndrome +   
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
Conductive Hearing Loss +   
Cone-Rod Dystrophy and Hearing Loss +   
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 Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
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 Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Micromelic Dysplasia with Dislocation of Radius +   
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
congenital secretory sodium diarrhea 3  
Contiguous Abcd1/Dxs1375e Deletion Syndrome  
Cornea Guttata with Anterior Polar Cataract 
Cornelia de Lange syndrome +   
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic 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 
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  
Cryptomicrotia Brachydactyly Syndrome 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Cyprus Facial Neuromusculoskeletal Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deaf-Blind Disorders +   
Deafness +   
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness, Nephritis, Anorectal Malformation 
Deafness, Unilateral, with Delayed Endolymphatic Hydrops  
Deafness-Craniofacial 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 
Desanto-Shinawi Syndrome  
Desmosterolosis  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Devriendt syndrome 
diabetic cataract  
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, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DK Phocomelia Syndrome 
Donohue syndrome  
Down syndrome +   
Dubowitz syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
ectodermal dysplasia +   
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 
Edict Syndrome  
Edinburgh Malformation Syndrome 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
FACES Syndrome 
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Facio Thoraco Genital Syndrome 
Faciocardiomelic Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor Syndrome  
Flynn Aird Syndrome 
Forebrain Defects  
Forney Robinson Pascoe Syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Fried Goldberg Mundel Syndrome 
Fryns Macrocephaly 
Fryns Syndrome 
Functional Hearing Loss 
Galloway-Mowat syndrome +   
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Geleophysic Dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glutamyl Ribose-5-Phosphate Storage Disease 
Goldstein Hutt Syndrome 
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Gorlin Chaudhry Moss Syndrome 
Granddad Syndrome 
Grant Syndrome 
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  
Grubben de Cock Borghgraef Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hearing Loss, Bilateral +   
Hearing Loss, Mixed Conductive-Sensorineural +  
Hearing Loss, Unilateral +   
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hecht Syndrome  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 23  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
High-Frequency Hearing Loss  
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hittner Hirsch Kreh Syndrome 
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holoprosencephaly 10 
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hoyeraal Hreidarsson Syndrome  
Hunter-Macdonald Syndrome 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatasia with Mental Retardation +   
hypertelorism, microtia, facial clefting syndrome 
Hypertrophic Neuropathy and Cataract 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypomelia Mullerian Duct Anomalies 
hypomyelinating leukodystrophy 5  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Hypospadias-Mental Retardation Syndrome 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
inclusion-cell disease  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies +   
Insulin-Like Growth Factor I, Resistance To  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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 HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Noncompaction of the Ventricular Myocardium +   
ITM2B-related cerebral amyloid angiopathy 2  
Jarcho-Levin Syndrome  
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jorgenson Lenz Syndrome 
Joubert syndrome 1  
Jung Wolff Back Stahl Syndrome 
Juvenile Cataract, with Microcornea and Glucosuria  
Kabuki syndrome +   
Kahrizi syndrome  
Kapur Toriello Syndrome 
Karandikar Maria Kamble Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
KOSAKI OVERGROWTH SYNDROME  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
Krasnow Qazi Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
LADD syndrome  
Lamb-Shaffer Syndrome  
Lambotte Syndrome 
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
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 
Lichtenstein Syndrome 
Light Fixation Seizure Syndrome 
Linear Skin Defects with Multiple Congenital Anomalies +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Loucks-Innes Syndrome  
Lowry Maclean syndrome 
Lowry Wood Syndrome 
Lubinsky Syndrome 
Lung Agenesis +   
Luscan-Lumish syndrome  
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
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 Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
Manouvrier Syndrome 
Marden Walker Like 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 Syndrome +   
Marshall-Smith syndrome  
Martsolf syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome  
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
MEHMO syndrome  
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
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 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, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
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 IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
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 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Microspherophakia with Hernia 
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
MIRAGE SYNDROME  
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mobius 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 
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nance-Horan syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Nathalie Syndrome 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND 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-Lissencephalic Cortical Dysplasia 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Novak Syndrome 
O'Donnell Pappas Syndrome  
Obesity, Hyperphagia, and Developmental Delay  
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Oculoskeletodental Syndrome  
Ogden syndrome  
Oliver-McFarlane syndrome  
Omodysplasia 2  
Opitz Trigonocephaly Syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
Oroacral Syndrome, Verloes-Koulischer Type 
orofaciodigital syndrome +   
Oslam syndrome 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
Osteolysis Syndrome Recessive 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Otoonychoperoneal Syndrome 
Paine Syndrome 
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma and congenital alopecia 2 
Partington Anderson Syndrome 
Patterson Pseudoleprechaunism Syndrome 
Pavone Fiumara Rizzo Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition 
Pentalogy of Cantrell 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Perisylvian Syndrome +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Peters Anomaly with Cataract 
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
PHARC syndrome  
PHGDH deficiency  
Piepkorn Karp Hickok syndrome 
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierson syndrome  
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
Polycystic Kidney, Cataract, and Congenital Blindness 
porencephaly +   
postaxial acrofacial dysostosis  
posterior polar cataract  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias  
Premature Aging, Okamoto Type 
primary microcephaly +   
Primrose Syndrome  
Progeroid Facial Appearance with Hand Anomalies 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Prolidase Deficiency  
Proteus syndrome +   
prune belly syndrome +   
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Pseudoaminopterin Syndrome 
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 
Raine Syndrome  
Rajab Syndrome  
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
Renal and Mullerian Duct Hypoplasia +   
Renal Dysplasia - Limb Defects Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Renal Tubular Dysgenesis with Choanal Atresia and Athelia 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Ritscher-Schinzel syndrome +   
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman-Chitayat Syndrome 
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Defect and Anterior Sacral Meningocele  
Sacral Meningocele Conotruncal Heart Defects 
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 
Scalp Ear Nipple Syndrome  
SCARF Syndrome 
Schaap Taylor Baraitser Syndrome 
Schaefer Stein Oshman Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Sebaceous Nevus of Jadassohn +   
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  
Sengers syndrome  
senile cataract +   
sensorineural hearing loss +   
Seow Najjar Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Growth Restriction with Distinctive Facies  
Sharma Kapoor Ramji Syndrome 
SHASHI-PENA SYNDROME  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
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  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Shprintzen Omphalocele Syndrome 
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst Syndrome 
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Snijders Blok-Campeau Syndrome  
Sotos syndrome +   
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia with Dysmorphism 
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
spondylocarpotarsal synostosis syndrome  
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondyloocular Syndrome, Autosomal Recessive  
Squalene Synthase Deficiency  
STANKIEWICZ-ISIDOR SYNDROME  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stoelinga de Koomen Davis Syndrome 
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
syndromic X-linked intellectual disability Turner type  
Tamari Goodman Syndrome 
Teebi Kaurah Syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Ter Haar Syndrome  
tetanic cataract 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetraamelia Multiple Malformations 
Tetraamelia Syndrome 2  
Thakker Donnai 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 
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 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
ulnar-mammary syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Urioste Martinez-Frias Syndrome 
urofacial syndrome +   
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay Faciocardiomusculoskeletal Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1  
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
VERVERI-BRADY SYNDROME  
Vici syndrome  
visceral heterotaxy +   
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Weaver syndrome  
Weill-Marchesani syndrome +   
Wellesley Carmen French Syndrome 
Weyers Acrofacial Dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester Syndrome  
Winship Viljoen Leary Syndrome 
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zerres Rietschel Majewski Syndrome 
Zimmerman Laband Syndrome  
Zonular Cataract and Nystagmus  
ZTTK Syndrome  

Synonyms
Primary IDs: MESH:C567849 ;   RDO:0012063

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