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Term:
X-linked epilepsy with variable learning disabilities and behavior disorders (DOID:0112122)
Annotations: Rat: (13) Mouse: (12) Human: (18) Chinchilla: (13) Bonobo: (13) Dog: (13) Squirrel: (13) Pig: (13)
Parent Terms Term With Siblings Child Terms
epilepsy +     
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
adjustment disorder  
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi syndrome 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Arthrogryposis, X-Linked, Type V 
autoimmune epilepsy 
AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED 
Autosomal Dominant Intellectual Developmental Disorder 60  
autosomal recessive spinocerebellar ataxia 12  
Baraitser-Winter syndrome +   
Battaglia Neri Syndrome 
Beta-Amino Acids, Renal Transport of 
Borjeson-Forssman-Lehmann syndrome  
Bornholm Eye Disease 
Boudhina Yedes Khiari syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Choroideremia +   
Christianson syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
Chromosome Xq28 Duplication Syndrome  
Cleft Palate with Ankyloglossia  
Coffin Syndrome 1 
cognitive disorder +   
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES  
developmental disorder of mental health +   
Dilated Cardiomyopathy 3A 
dissociative disorder +  
distal 10q deletion syndrome  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Drug Resistant Epilepsy +   
dyscalculia 
early-onset vitamin B6-dependent epilepsy  
eating disorder +   
electroclinical syndrome +   
Elimination Disorders +   
Epidermodysplasia Verruciformis, X-Linked 
Epilepsy Telangiectasia 
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
extratemporal epilepsy 
Fabry disease +   
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
factitious disorder +  
favism  
Febrile Seizures +   
fetal akinesia deformation sequence syndrome X-linked 
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Fragile Site 16p12 
Generalized Epilepsy +   
Giacheti Syndrome 
Glycosylphosphatidylinositol Deficiency +   
Gurrieri Sammito Bellussi Syndrome 
Halperin-Birk Syndrome  
High-Frequency Deafness, Sensorineural, X-Linked 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
impulse control disorder +   
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language Delay  
intracranial berry aneurysm 5 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Kifafa Seizure Disorder 
KINSSHIP syndrome  
Kohlschutter-Tonz syndrome  
Leigh Syndrome, X-Linked  
Luscan-Lumish syndrome  
McLeod syndrome  
Meester-Loeys syndrome  
MEHMO syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly, Epilepsy, and Diabetes Syndrome +   
microcephaly, growth deficiency, seizures, and brain malformations  
Midline Defects, X-Linked 
Motor Disorders +   
Multiple Pterygium Syndrome, X-Linked 
Myoclonic Epilepsies +   
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH  
Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements  
Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
Neurodevelopmental Disorders +   
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2 +   
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
personality disorder +   
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
Pitt-Hopkins syndrome +   
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
primary ovarian insufficiency 1  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pulmonary Surfactant Metabolism Dysfunction 4  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Ramon Syndrome 
reading disorder +   
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
Retinal Degeneration and Epilepsy 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Riddle syndrome  
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rud Syndrome 
Russell-Silver Syndrome, X-Linked 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
Schizophrenia Spectrum and Other Psychotic Disorders +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Selective Tooth Agenesis, X-Linked, 1  
sexual health disorder +   
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slavotinek Pike Mills Hurst Syndrome 
sleep disorder +   
somatoform disorder +   
Specific Learning Disorder 
Spina Bifida, X-Linked 
Spinocerebellar Ataxia with Epilepsy  
split hand-foot malformation 2 
Spondylometaphyseal Dysplasia, X-Linked 
Spongiform Encephalopathy with Neuropsychiatric Features  
status epilepticus +   
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
substance-related disorder +   
syndromic microphthalmia 13  
syndromic X-linked intellectual disability Hedera type  
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Trauma and Stressor Related Disorders +   
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
visual epilepsy +   
Von Willebrand Disease, X-Linked Form 
Webb-Dattani Syndrome  
Wittwer Syndrome  
writing disorder +  
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked central diabetes insipidus  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-linked epilepsy with variable learning disabilities and behavior disorders  
An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2. (DO)
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Intellectual Developmental Disorders +   
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism +   
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-Linked Spermatogenic Failure 4  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Thrombophilia due to Factor VIII Defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: EPILX ;   X-linked epilepsy-learning disabilities-behavior disorders syndrome
Primary IDs: MESH:C564505
Alternate IDs: OMIM:300491
Xrefs: ORDO:85294
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "DO" "DO"

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