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Ontology Browser

Term:
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (DOID:9003893)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Alkuraya-Kucinskas syndrome  
ALZAHRANI-KUWAHARA SYNDROME  
Attention Deficit and Disruptive Behavior Disorders +   
Baker-Gordon Syndrome  
Baralle-Macken Syndrome  
Barre-Lieou syndrome 
BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME  
Bryant-Li-Bhoj Neurodevelopmental Syndrome +   
BURATTI-HAREL SYNDROME  
Cardiofacioneurodevelopmental Syndrome  
CEBALID Syndrome  
Child Behavior Disorders +   
Childhood Schizophrenia  
CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
CHOPRA-AMIEL-GORDON SYNDROME  
communication disorder +   
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 15  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 18  
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
Cone-Rod Dystrophy 22  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
cone-rod dystrophy 9  
Cone-Rod Dystrophy and Hearing Loss +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
A disease characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors.
DEGCAGS SYNDROME  
Delpire-McNeill Syndrome  
DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME  
developmental coordination disorder  
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities  
DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES  
Developmental Disabilities +   
Diencephalic-Mesencephalic Junction Dysplasia Syndromes +   
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome  
GABRIELE-DE VRIES SYNDROME  
Halperin-Birk Syndrome  
Harel-Yoon Syndrome  
HENGEL-MAROOFIAN-SCHOLS SYNDROME  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
IMAGAWA-MATSUMOTO SYNDROME  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES  
intellectual disability +   
JABERI-ELAHI SYNDROME  
Kahn-Kahn-Katsanis Syndrome  
Kaya-Barakat-Masson Syndrome  
learning disability +   
LESSEL-KREIENKAMP SYNDROME  
LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME  
Liang-Wang Syndrome  
Lopes-Maciel-Rodan Syndrome  
LUO-SCHOCH-YAMAMOTO SYNDROME  
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN  
MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME  
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures  
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
mutism  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
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 Alopecia and Brain Abnormalities  
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 MOTOR DYSFUNCTION  
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 Coarse Facies and Mild Distal Skeletal Abnormalities  
Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM  
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 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 HEARING LOSS AND SPASTICITY  
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 VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES  
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 Impaired Intellectual Development, Hypotonia, and Ataxia   
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements  
NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL 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, Cortical Malformations, and Spasticity  
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, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
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 MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES  
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 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 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 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 SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
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  
Newfoundland cone-rod dystrophy  
O'Donnell-Luria-Rodan Syndrome  
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Okur-Chung Neurodevelopmental Syndrome  
pervasive developmental disorder +   
Pilarowski-Bjornsson Syndrome  
POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME  
Popov-Chang Syndrome 
Reactive Attachment Disorder  
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction  
separation anxiety disorder  
Shukla-Vernon syndrome  
Skraban-Deardorff Syndrome  
Spastic Paraplegia and Psychomotor Retardation with or without Seizures  
Stankiewicz-Isidor Syndrome  
stereotypic movement disorder +   
Tessadori-van Haaften Neurodevelopmental Syndrome +   
tic disorder +   
Trichohepatoneurodevelopmental Syndrome  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT  
USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE  
Ventriculomegaly +   
WHITE-KERNOHAN SYNDROME  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  

Synonyms
Exact Synonyms: CRSDS ;   congenital nonprogressive cone-rod synaptic disorder syndrome
Primary IDs: OMIM:618970
Definition Sources: OMIM:618970

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