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

Ontology Browser

Term:
microcephaly, seizures, and developmental delay (DOID:0080457)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
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 
Alcohol Withdrawal Seizures  
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Arthrogryposis, Mental Retardation, and Seizures  
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant microcephaly +   
autosomal dominant non-syndromic intellectual disability 6  
Baetz-Greenwalt syndrome 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baraitser Brett Piesowicz Syndrome 
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
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 
CAMFAK Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
Cerebellar Hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset epileptic encephalopathy +   
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 15q13.3 microdeletion 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  
Cohen Syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital disorder of glycosylation type IIm  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Copper Deficiency, Familial Benign 
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniosynostosis 2  
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
developmental delay and seizures with or without movement abnormalities  
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dravet syndrome  
Dubowitz syndrome 
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 1  
early infantile epileptic encephalopathy 11  
early infantile epileptic encephalopathy 12  
early infantile epileptic encephalopathy 13  
early infantile epileptic encephalopathy 14  
early infantile epileptic encephalopathy 15  
early infantile epileptic encephalopathy 16  
early infantile epileptic encephalopathy 17  
early infantile epileptic encephalopathy 18  
early infantile epileptic encephalopathy 19  
early infantile epileptic encephalopathy 2  
early infantile epileptic encephalopathy 21  
early infantile epileptic encephalopathy 23  
early infantile epileptic encephalopathy 24  
early infantile epileptic encephalopathy 25  
early infantile epileptic encephalopathy 26  
early infantile epileptic encephalopathy 27  
early infantile epileptic encephalopathy 28  
early infantile epileptic encephalopathy 29  
early infantile epileptic encephalopathy 3  
early infantile epileptic encephalopathy 30  
early infantile epileptic encephalopathy 31  
early infantile epileptic encephalopathy 32  
early infantile epileptic encephalopathy 33  
early infantile epileptic encephalopathy 34  
early infantile epileptic encephalopathy 35  
early infantile epileptic encephalopathy 36  
early infantile epileptic encephalopathy 37  
early infantile epileptic encephalopathy 38  
early infantile epileptic encephalopathy 39  
early infantile epileptic encephalopathy 4  
early infantile epileptic encephalopathy 40  
early infantile epileptic encephalopathy 41  
early infantile epileptic encephalopathy 42  
early infantile epileptic encephalopathy 43  
early infantile epileptic encephalopathy 44  
early infantile epileptic encephalopathy 45  
early infantile epileptic encephalopathy 46  
early infantile epileptic encephalopathy 47  
early infantile epileptic encephalopathy 48  
early infantile epileptic encephalopathy 49  
early infantile epileptic encephalopathy 5  
early infantile epileptic encephalopathy 50  
early infantile epileptic encephalopathy 51  
early infantile epileptic encephalopathy 52  
early infantile epileptic encephalopathy 53  
early infantile epileptic encephalopathy 54  
early infantile epileptic encephalopathy 55  
early infantile epileptic encephalopathy 56  
early infantile epileptic encephalopathy 57  
early infantile epileptic encephalopathy 58  
early infantile epileptic encephalopathy 59  
early infantile epileptic encephalopathy 60  
early infantile epileptic encephalopathy 61  
early infantile epileptic encephalopathy 62  
early infantile epileptic encephalopathy 63  
early infantile epileptic encephalopathy 65  
early infantile epileptic encephalopathy 66  
early infantile epileptic encephalopathy 7  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Infantile Epileptic Encephalopathy, 64  
Early Infantile Epileptic Encephalopathy, 67  
Early Infantile Epileptic Encephalopathy, 68  
Early Infantile Epileptic Encephalopathy, 69  
Early Infantile Epileptic Encephalopathy, 70  
Early Infantile Epileptic Encephalopathy, 71  
Early Infantile Epileptic Encephalopathy, 72  
Early Infantile Epileptic Encephalopathy, 73  
Early Infantile Epileptic Encephalopathy, 74  
Early Infantile Epileptic Encephalopathy, 75  
Early Infantile Epileptic Encephalopathy, 76  
Early Infantile Epileptic Encephalopathy, 77  
Early Infantile Epileptic Encephalopathy, 78  
Early Infantile Epileptic Encephalopathy, 79  
Early Infantile Epileptic Encephalopathy, 80  
EAST syndrome  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Experimental Seizures  
Familial Convulsive Disorder with Prenatal or Early Onset 
Familial Infantile Convulsions and Paroxysmal Choreoathetosis  
Feingold syndrome +   
Filippi Syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Galloway-Mowat syndrome +   
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  
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Hadziselimovic Syndrome 
Halal Syndrome 
Hersh Podruch Weisskopk Syndrome 
Hoyeraal Hreidarsson Syndrome  
Hyper-Beta-Alaninemia 
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hyperleucine-Isoleucinemia 
hypermethioninemia due to adenosine kinase deficiency  
Hyperphosphatemia, Polyuria, and Seizures 
hypertelorism, microtia, facial clefting syndrome 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypomagnesemia, Seizures, and Mental Retardation +   
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, Seizures, and Precocious Puberty 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
Jorgenson Lenz Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keppen-Lubinsky Syndrome  
Lamb-Shaffer Syndrome  
Lambotte Syndrome 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Linear Skin Defects with Multiple Congenital Anomalies 2  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Loucks-Innes Syndrome  
Lowry Wood Syndrome 
Luscan-Lumish syndrome  
MacDermot Winter Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Methionine Malabsorption 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  
An early infantile epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)
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, Syndromic 13  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mowat-Wilson syndrome  
Muller Barth Menger Syndrome 
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
multiple congenital anomalies-hypotonia-seizures syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
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 
Obesity, Hyperphagia, and Developmental Delay  
Occipital Cortical Malformations  
Oculopalatocerebral Syndrome 
Ogden syndrome  
Oliver-McFarlane syndrome  
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
Paine Syndrome 
Partington Anderson Syndrome 
Partington syndrome  
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Perniola Krajewska Carnevale Syndrome 
PHGDH deficiency  
Pierpont syndrome  
porencephaly +   
Primary Aldosteronism, Seizures, and Neurologic Abnormalities  
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
Pseudo-TORCH Syndrome +   
pseudo-TORCH syndrome 1  
Qazi Markouizos syndrome 
Raine Syndrome  
Rajab Syndrome  
Refsum Disease with Increased Pipecolic Acidemia 
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal  
Roifman-Chitayat Syndrome 
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say 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 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES  
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 
Smith-Kingsmore 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  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
Stromme syndrome  
succinic semialdehyde dehydrogenase deficiency  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
Ter Haar Syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Total Anonychia with Microcephaly 
Tranebjaerg Svejgaard syndrome 
Trichodental Syndrome 
Tsukahara Syndrome 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
VERVERI-BRADY SYNDROME  
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
White-Sutton syndrome  
Winship Viljoen Leary Syndrome 
X-Linked Mental Retardation Gustavson Type 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: EIEE10 ;   MCSZ ;   early infantile epileptic encephalopathy 10
Primary IDs: OMIM:613402
Alternate IDs: RDO:0009833
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20118933, https://www.ncbi.nlm.nih.gov/pubmed/23224214

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.