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Ontology Browser

Term:
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION (DOID:9004290)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia  
Adams Nance Syndrome 
Agenesis of Corpus Callosum +   
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency  
Aicardi-Goutieres syndrome +   
ALKURAYA-KUCINSKAS SYNDROME  
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan 
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alpha-B Crystallinopathy with Cataract 
Aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
anorexia nervosa +   
Arachnodactyly Ataxia Cataract Aminoaciduria Mental Retardation 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
Attention Deficit and Disruptive Behavior Disorders +   
autosomal dominant mental retardation 20  
Autosomal Dominant Mental Retardation 60  
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 
autosomal recessive spinocerebellar ataxia 12  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
BAKER-GORDON SYNDROME  
Baraitser-Winter syndrome +   
Bassoe Syndrome 
Battaglia Neri Syndrome 
benign neonatal seizures +   
Beta-Amino Acids, Renal Transport of 
Bhaskar Jagannathan Syndrome 
Binge-Eating Disorder  
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
bulimia nervosa +   
CAHMR Syndrome 
CAMFAK Syndrome 
Capsule Opacification 
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  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY  
Cerebellar Hypoplasia +   
Cerebellar Hypoplasia with Endosteal Sclerosis  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Child Behavior Disorders +   
Childhood Schizophrenia  
Christianson syndrome  
chromosome 17p13.3 duplication syndrome  
chromosome 1p32-p31 deletion syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coffin Syndrome 1 
communication disorder +   
complex cortical dysplasia with other brain malformations +   
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy 
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
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 
Crome Syndrome 
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Dandy-Walker syndrome +   
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Developmental Disabilities +   
diabetic cataract  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drachtman Weinblatt Sitarz Syndrome 
Drug Resistant Epilepsy +   
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Edict Syndrome  
electroclinical syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM  
Epilepsy Telangiectasia 
Epilepsy, Early-Onset, Vitamin B6-Dependent  
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Epilepsy, Occipital Calcifications 
Epilepsy, Post-Traumatic 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Febrile Seizures +   
Female Athlete Triad Syndrome 
Fine-Lubinsky Syndrome 
Flynn Aird Syndrome 
Focal Cortical Dysplasia of Taylor  
focal epilepsy +   
GABRIELE-DE VRIES SYNDROME  
Generalized Epilepsy +   
Glycosylphosphatidylinositol Deficiency +   
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Gurrieri Sammito Bellussi Syndrome 
HAREL-YOON SYNDROME  
HEART AND BRAIN MALFORMATION SYNDROME  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary sensory neuropathy +   
hereditary spastic paraplegia 9A  
Hot Water Epilepsy +  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy +   
hypomyelinating leukodystrophy 5  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
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  
JABERI-ELAHI SYNDROME  
Juvenile Cataract, with Microcornea and Glucosuria  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kifafa Seizure Disorder 
Kohlschutter Tonz Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krabbe disease +   
Krasnow Qazi Syndrome 
Landau-Kleffner syndrome  
learning disability +   
Leg, Absence Deformity of, with Congenital Cataract 
Lennox-Gastaut syndrome  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lopes-Maciel-Rodan Syndrome  
Lubinsky Syndrome 
Marinesco-Sjogren syndrome  
Marshall Syndrome +   
Martsolf syndrome  
Median-Ulnar Nerve Communications 
Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations  
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
metachromatic leukodystrophy +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Epilepsy, and Diabetes Syndrome  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 2  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 6  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mousa Al din Al Nassar Syndrome 
mutism  
Myoclonic Epilepsies +   
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
myotonic cataract 
Nance-Horan syndrome  
Nathalie Syndrome 
neural tube defect +   
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
A syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Additional features include hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk. Brain imaging shows cerebral atrophy and delayed myelination. (OMIM)
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS  
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 BRAIN ATROPHY  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
O'Donnell Pappas Syndrome  
O'DONNELL-LURIA-RODAN SYNDROME  
Oculoskeletodental Syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Optic Atrophy and Cataract, Autosomal Dominant  
Optic Atrophy with Demyelinating Disease of CNS 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
palmoplantar keratoderma and congenital alopecia 2 
Pavone Fiumara Rizzo Syndrome 
Pervasive Child Development Disorders +   
Peters Anomaly with Cataract 
PHARC syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
pica disease 
PILAROWSKI-BJORNSSON SYNDROME  
Pitt-Hopkins syndrome +   
Pointer Syndrome 
Polycystic Kidney, Cataract, and Congenital Blindness 
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Popov-Chang Syndrome  
posterior polar cataract  
Premature Aging, Okamoto Type 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
Pyridoxine-Dependent Epilepsy  
Ramon Syndrome 
Reactive Attachment Disorder 
Retinal Degeneration and Epilepsy 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Retinal Vasculopathy with Cerebral Leukodystrophy  
Rud Syndrome 
rumination disorder 
salt and pepper syndrome  
Sandhaus Ben-Ami Syndrome 
Schaap Taylor Baraitser Syndrome 
Schisis Association 
Seemanova Lesny Syndrome 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Sengers syndrome  
senile cataract +   
Seow Najjar Syndrome 
separation anxiety disorder  
septooptic dysplasia +   
SHUKLA-VERNON SYNDROME  
Singh Chhaparwal Dhanda Syndrome 
Skraban-Deardorff Syndrome  
Slavotinek Pike Mills Hurst Syndrome 
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Spinocerebellar Ataxia with Epilepsy  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloocular Syndrome, Autosomal Recessive  
STANKIEWICZ-ISIDOR SYNDROME  
status epilepticus +   
stereotypic movement disorder +   
syndromic X-linked intellectual disability Hedera type  
tetanic cataract 
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
Ventriculomegaly  
Vici syndrome  
visual epilepsy +   
Warburg micro syndrome +   
Wellesley Carmen French Syndrome 
Wittwer Syndrome 
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
Zonular Cataract and Nystagmus  

Synonyms
Exact Synonyms: NECFM
Primary IDs: OMIM:617393 ;   RDO:9001718

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