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Term:
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME (DOID:9003110)
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  
Abuse Dwarfism Syndrome 
aceruloplasminemia  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
AGAT deficiency  
agenesis of the corpus callosum with peripheral neuropathy  
Al Gazali Sabrinathan Nair Syndrome 
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beck-Fahrner Syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Brachycephaly, Trichomegaly, and Developmental Delay  
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hypoplasia +   
Cerebellofaciodental Syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Childhood-Onset Neurodegeneration with Brain Atrophy  
Childhood-Onset Neurodegeneration with Cerebellar Atrophy  
Chitayat Moore Del Bigio Syndrome 
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 3q29 microdeletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chronic Traumatic Encephalopathy 
Cleft Palate, Proliferative Retinopathy, and Developmental Delay  
Cohen syndrome  
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
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  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Cystic Leukoencephalopathy without Megalencephaly  
Demyelinating Autoimmune Diseases, CNS +   
demyelinating disease +   
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  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
eye degenerative disease +   
eyelid degenerative disease +  
Feigenbaum Bergeron Richardson Syndrome 
FINCA Syndrome  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fragile Site 16p12 
Frank-Ter Haar 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  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
hereditary ataxia +   
Hereditary Central Nervous System Demyelinating Diseases +   
Heyn-Sproul-Jackson Syndrome  
Huntington's disease-like 2  
hypermethioninemia due to adenosine kinase deficiency  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Labrune Syndrome  
Lamb-Shaffer Syndrome  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive.
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Loucks-Innes Syndrome  
Luscan-Lumish syndrome  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
motor neuron disease +   
multiple system atrophy +   
myoclonic cerebellar dyssynergia +  
Nervous System Heredodegenerative Disorders +   
Nervous System Paraneoplastic Syndromes +   
neurodegeneration with brain iron accumulation +   
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA  
NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES  
Neuronal Intranuclear Inclusion Disease  
Nizon-Isidor Syndrome  
Non-Lissencephalic Cortical Dysplasia 
Obesity, Hyperphagia, and Developmental Delay  
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Ogden syndrome  
Oliver-McFarlane syndrome  
olivopontocerebellar atrophy +   
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Osteosclerotic Metaphyseal Dysplasia  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partington Anderson Syndrome 
PEHO syndrome  
Periventricular Nodular Heterotopia 7  
Pierpont syndrome  
plexopathy 
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
pontocerebellar hypoplasia +   
Posterior Leukoencephalopathy Syndrome  
postpoliomyelitis syndrome 
primary cerebellar degeneration +   
prion disease +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Pseudo-TORCH Syndrome +   
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant 
Rajab Interstitial Lung Disease with Brain Calcifications +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum Disease with Increased Pipecolic Acidemia 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Ribose 5-Phosphate Isomerase Deficiency  
Roifman-Chitayat Syndrome 
secondary Parkinson disease +   
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Snijders Blok-Fisher Syndrome  
spastic ataxia 3  
Spastic Pseudosclerosis 
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Subacute Combined Degeneration  
succinic semialdehyde dehydrogenase deficiency  
synucleinopathy +   
tauopathy +   
TDP-43 Proteinopathies +   
Telencephalic Leukoencephalopathy 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Turnpenny-Fry Syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
vascular dementia +   
VERVERI-BRADY SYNDROME  
WEISS-KRUSZKA SYNDROME  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: EIF2AK2-RELATED CONDITION ;   LEUDEN ;   LEUDEN SYNDROME
Primary IDs: OMIM:618877
Definition Sources: OMIM:618877

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