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Term:
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum (DOID:9003021)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cataract +     
dystonia +     
microcephaly +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
3MC syndrome 3  
3p- syndrome 
Absent Eyebrows and Eyelashes with Mental Retardation 
Abuse Dwarfism Syndrome 
achalasia microcephaly syndrome 
Adams Nance Syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
AGAT deficiency  
Al Gazali Sabrinathan Nair Syndrome 
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alpha-B Crystallinopathy with Cataract 
Amish Lethal Microcephaly  
Amyotrophic Dystonic Paraplegia 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
Aphalangia Syndactyly Microcephaly 
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant microcephaly +   
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Brett Piesowicz Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Bassoe Syndrome 
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Bhaskar Jagannathan Syndrome 
Bilateral Striatal Necrosis with Dystonia  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bullous Dystrophy, Hereditary Macular Type 
CAHMR Syndrome 
CAMFAK Syndrome 
Capsule Opacification 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
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  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
childhood onset GLUT1 deficiency syndrome 2  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
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 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
CK Syndrome  
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Cohen Syndrome  
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 HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital muscular dystrophy with cataracts and intellectual disability  
Cornea Guttata with Anterior Polar Cataract 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
deafness-dystonia-optic neuronopathy syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
diabetic cataract  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
dystonia 12  
dystonia 21 
DYSTONIA 28, CHILDHOOD-ONSET  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
Edict Syndrome  
Ellis Yale Winter Syndrome 
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Feingold syndrome +   
Filippi Syndrome  
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
focal dystonia +   
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Galloway-Mowat syndrome +   
generalized dystonia +   
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  
Goldstein Hutt Syndrome 
GOMBO 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 Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopk Syndrome 
Hoyeraal Hreidarsson Syndrome  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
hypermanganesemia with dystonia +   
hypermethioninemia due to adenosine kinase deficiency  
hypertelorism, microtia, facial clefting syndrome 
Hypertrophic Neuropathy and Cataract 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
hypomyelinating leukodystrophy 5  
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  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
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  
Jorgenson Lenz Syndrome 
Juvenile Cataract, with Microcornea and Glucosuria  
Juvenile-Onset Dystonia  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krasnow Qazi Syndrome 
Lamb-Shaffer Syndrome  
Lambotte Syndrome 
Leg, Absence Deformity of, with Congenital Cataract 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loucks-Innes Syndrome  
Lowry Wood Syndrome 
Lubinsky Syndrome 
Luscan-Lumish syndrome  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
Marinesco-Sjogren syndrome  
Marsden Syndrome  
Marshall Syndrome +   
Martsolf syndrome  
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
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  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Dystonia  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
Mowat-Wilson syndrome  
multifocal dystonia +   
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
myoclonic dystonia +   
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nathalie Syndrome 
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
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  
Nijmegen Breakage Syndrome-Like Disorder  
Non-Lissencephalic Cortical Dysplasia 
O'Donnell Pappas Syndrome  
Obesity, Hyperphagia, and Developmental Delay  
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
Ogden syndrome  
Oliver-McFarlane syndrome  
Optic Atrophy and Cataract, Autosomal Dominant  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Paine Syndrome 
palmoplantar keratoderma and congenital alopecia 2 
Parkinson's disease 14  
Parkinsonism-Dystonia, Infantile +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partington Anderson Syndrome 
Pavone Fiumara Rizzo Syndrome 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Peters Anomaly with Cataract 
PHARC syndrome  
PHGDH deficiency  
Pierpont syndrome  
Polycystic Kidney, Cataract, and Congenital Blindness 
porencephaly +   
posterior polar cataract  
Premature Aging, Okamoto Type 
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Raine Syndrome  
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Roifman-Chitayat Syndrome 
Rolandic Epilepsy, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp  
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
Segawa Syndrome, Autosomal Recessive  
segmental dystonia +   
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
sepiapterin reductase deficiency  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silengo Lerone Pelizza Syndrome 
Singh Chhaparwal Dhanda Syndrome 
Slavotinek Pike Mills Hurst 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 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
Ter Haar Syndrome  
tetanic cataract 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
torsion dystonia 17 
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
Vici syndrome  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Wellesley Carmen French Syndrome 
Winship Viljoen Leary Syndrome 
Zerres Rietschel Majewski Syndrome 
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: MCIDDS
Primary IDs: OMIM:618284

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