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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) Naked Mole-rat: (1) Green Monkey: (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 +   
Alcohol Withdrawal Seizures  
ALFADHEL SYNDROME  
Alkuraya-Kucinskas syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 
Alpha-B Crystallinopathy with Cataract 
ALZAHRANI-KUWAHARA SYNDROME  
aniridia 1  
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 
anorexia nervosa +   
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Athabaskan brainstem dysgenesis syndrome  
Attention Deficit and Disruptive Behavior Disorders +   
autoimmune epilepsy 
Autosomal Dominant Intellectual Developmental Disorder 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 +   
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
Bassoe Syndrome 
Battaglia Neri Syndrome 
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  
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
bulimia nervosa +   
BURATTI-HAREL SYNDROME  
CAHMR Syndrome 
CAMFAK Syndrome 
Capsule Opacification 
Cardiofacioneurodevelopmental Syndrome  
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 47  
cataract 48  
Cataract 49  
cataract 5 multiple types  
Cataract 50 with or without Glaucoma  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cataract and Congenital Ichthyosis 
Cataract Ataxia Deafness 
Cataract Microcornea Syndrome  
Cataract, Age-Related Nuclear 
Cataract, Autosomal Dominant Nuclear  
Cataract, Autosomal Recessive Congenital 1  
Cataract, Congenital Dominant Non Nuclear  
Cataract, Cortical Pulverulent, Late-Onset 
Cataract, Crystalline Coralliform 
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  
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +   
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY  
CEBALID Syndrome  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
cerebellar hypoplasia +   
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Child Behavior Disorders +   
Childhood Schizophrenia  
Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
Christianson syndrome  
chromosome 17p13.3 duplication syndrome  
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB  
Chromosome Xq27.3-q28 Duplication Syndrome 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coffin Syndrome 1 
communication disorder +   
complex cortical dysplasia with other brain malformations +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
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 
Dandy-Walker syndrome +   
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
developmental and epileptic encephalopathy 39  
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
developmental delay, dysmorphic facies, and brain anomalies  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
Developmental Disabilities +   
diabetic cataract  
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Drachtman Weinblatt Sitarz Syndrome 
Drug Resistant Epilepsy +   
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME  
Dysmyelinating Leukodystrophy with Oligodontia  
Dysmyelination with Jaundice 
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
early-onset epilepsy 2  
early-onset epilepsy 3  
EDICT Syndrome  
electroclinical syndrome +   
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Epilepsy Telangiectasia 
Epilepsy, Occipital Calcifications 
extratemporal epilepsy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Familial Partial Lipodystrophy Type 7  
Febrile Seizures +   
Female Athlete Triad Syndrome 
Fine-Lubinsky Syndrome  
FLIEDNER-ZWEIER SYNDROME  
Floriform Cataract 
Flynn Aird Syndrome 
Focal Cortical Dysplasia of Taylor +   
focal epilepsy +   
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
foveal hypoplasia 1  
GABRIELE-DE VRIES SYNDROME  
Generalized Epilepsy +   
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
Glycosylphosphatidylinositol Deficiency +   
Goldstein Hutt Syndrome 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Gurrieri Sammito Bellussi Syndrome 
Halperin-Birk syndrome  
Hao-Fountain Syndrome  
Harel-Yoon syndrome  
HEART AND BRAIN MALFORMATION SYNDROME  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
Hengel-Maroofian-Schols syndrome  
hereditary sensory neuropathy +   
hereditary spastic paraplegia 9A  
High Myopia with Cataract and Vitreoretinal Degeneration  
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
hyperferritinemia-cataract syndrome  
Hypertrophic Neuropathy and Cataract 
hypomyelinating leukodystrophy +   
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 8  
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
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 Macrocephaly, Seizures, and Speech Delay  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Intellectual Developmental Disorder with Seizures and Language 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  
Kahn-Kahn-Katsanis Syndrome  
Kahrizi syndrome  
Karandikar Maria Kamble Syndrome 
Kaya-Barakat-Masson Syndrome  
Kifafa Seizure Disorder 
KINSSHIP syndrome  
Kohlschutter-Tonz syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Krabbe disease +   
Krasnow Qazi Syndrome 
learning disability +   
Leber hereditary optic neuropathy with demyelinating disease of CNS 
Leg, Absence Deformity of, with Congenital Cataract 
LESSEL-KREIENKAMP SYNDROME  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lopes-Maciel-Rodan Syndrome  
Lubinsky Syndrome 
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Martsolf Syndrome +   
Median-Ulnar Nerve Communications 
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 
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microphthalmia, Cataracts, and Iris Abnormalities  
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 
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
mutism  
Myoclonic Epilepsies +   
myofibrillar myopathy 2  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
myotonic cataract 
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Nance-Horan syndrome  
Nathalie Syndrome 
neural tube defect +   
NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY  
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  
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 Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly  
NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY  
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
neurodevelopmental disorder with hypotonia and speech delay  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES  
neurodevelopmental disorder with language delay and seizures  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY  
neurodevelopmental disorder with midbrain and hindbrain malformations  
NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM  
NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION  
Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features  
NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY  
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 OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
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 Disorder with Seizures, Microcephaly, and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY  
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties  
Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
Neurodevelopmental Disorder with Speech Impairment and with or without Seizures  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS  
NEUROOCULAR SYNDROME  
NFIA-related disorder  
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculoskeletodental Syndrome  
Okur-Chung Neurodevelopmental Syndrome  
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME  
optic atrophy 3  
Optic Atrophy with Demyelinating Disease of CNS 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
palmoplantar keratoderma and congenital alopecia 2 
Parenti-Mignot Neurodevelopmental Syndrome  
Pavone Fiumara Rizzo Syndrome 
pervasive developmental disorder +   
Peters Anomaly with Cataract 
PHARC syndrome  
Photogenic Epilepsy with Spastic Diplegia and Mental Retardation 
pica disease 
Pilarowski-Bjornsson Syndrome  
Pitt-Hopkins syndrome +   
Pointer Syndrome 
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Polycystic Kidney, Cataract, and Congenital Blindness 
polyhydramnios, megalencephaly, and symptomatic epilepsy  
Popov-Chang Syndrome 
Post-Traumatic Epilepsy 
posterior polar cataract  
Premature Aging, Okamoto Type 
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyridoxamine 5'-phosphate oxidase deficiency  
pyridoxine-dependent epilepsy +   
Ramon Syndrome 
Reactive Attachment Disorder  
Remitting Chorea with Nystagmus and Cataracts 
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, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS  
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 intellectual disability 
Spondyloocular Syndrome, Autosomal Recessive  
Stankiewicz-Isidor Syndrome  
status epilepticus +   
stereotypic movement disorder +   
Stolerman neurodevelopmental syndrome  
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 6  
syndromic X-linked intellectual disability Hedera type  
TAN-ALMURSHEDI SYNDROME  
Tessadori-van Haaften Neurodevelopmental Syndrome +   
tetanic cataract 
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Ventriculomegaly +   
Vici syndrome  
visual epilepsy +   
Warburg micro syndrome +   
Webb-Dattani Syndrome  
Wellesley Carmen French Syndrome 
WHITE-KERNOHAN SYNDROME  
Wittwer Syndrome  
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features  
X-linked epilepsy with variable learning disabilities and behavior disorders  
Yuan-Harel-Lupski Syndrome 
Zonular Cataract and Nystagmus 

Synonyms
Exact Synonyms: NACC1-RELATED CONDITION ;   NACC1-RELATED DISORDER ;   NECFM
Primary IDs: OMIM:617393

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