Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia, Poor eye contact, Hypsarrhythmi... |
OMIM:608097 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, EEG with focal slow activity, Abnormal cerebral cortex morphol... |
ORPHA:101029 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Infantile spasms, Delayed social development, Myoclonic seizure, Hypsarrhythmia, Spastic tetraple... |
OMIM:618677 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, F... |
ORPHA:275864 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Seizure, Pachygyria, Hypoplasia of the corpus ... |
OMIM:615411 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Dementia, Hyperintensity of cerebral white matter on MRI, Cognitive impairment, My... |
ORPHA:204 |
Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Cognitive impairment, Focal impaired awareness seizure, Astrocytosis, Hemipar... |
OMIM:607341 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Stereotypy, Seizure, Atax... |
OMIM:618709 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Infantile spasms, Hypsarrhythmia, Seizure, Pachygyria, Motor seizure, Agyria, Spasticity, Gray ma... |
ORPHA:1084 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Spastic tetraplegia, Seizure, Pachygyria, Agyria, Gray matter heter... |
OMIM:615412 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Chorea, Cortical dysplasia... |
ORPHA:88616 |
Hemimegalencephaly |
|
EEG with focal sharp slow waves, Seizure, Polymicrogyria, Interictal EEG abnormality, Focal corti... |
ORPHA:99802 |
Familial Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... |
ORPHA:225154 |
Lissencephaly 3 |
|
Spastic tetraplegia, Seizure, Ataxia, Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyr... |
OMIM:611603 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Cognitive impairment, Seizure, Ataxia, Hypertonia, EEG abnorma... |
ORPHA:1314 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Seizure, Agyria, Abnormal cerebra... |
OMIM:607432 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Autism, Susceptibility To, X-Linked 3 |
|
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... |
OMIM:300425 |
Autism |
|
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... |
OMIM:608636 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Seizure, Cerebral atrophy, Gait disturbance, Clonus, Caudate atrophy,... |
ORPHA:399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Myoclonus, Stereotypy, Astrocytosis, Frontot... |
OMIM:600795 |
Lissencephaly, X-Linked, 1 |
|
Seizure, Ataxia, Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Lissencephaly, Agenesis... |
OMIM:300067 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Astrocytosis, EEG with c... |
ORPHA:100070 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Seizure, Spasticity, Attention deficit hyperactivity disorde... |
OMIM:618185 |
Microlissencephaly |
|
Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Neuronal loss in ... |
ORPHA:1083 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Pachygyria, Impaired social interactions, Inability to walk, Stereotypy |
OMIM:606053 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety |
OMIM:617665 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Seizure, Hyperactivity, Inability to walk, Progressive microc... |
OMIM:616657 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Babinski sign, Dementia, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, ... |
ORPHA:282166 |
Polymicrogyria Due To Tubb2B Mutation |
|
Seizure, Polymicrogyria, Focal-onset seizure, Oromotor apraxia, Pachygyria, Attention deficit hyp... |
ORPHA:300573 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Seizure, Gray matter heterotopia, Hypsarrhythmia |
OMIM:615544 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Seizure, Hyperactivity, EEG abnormality |
ORPHA:436151 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration, Seizure, EEG abnormality |
ORPHA:2149 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Unilateral Focal Polymicrogyria |
|
EEG with occipital focal spikes, Spastic hemiparesis, Focal impaired awareness seizure, Seizure, ... |
ORPHA:268947 |
Foxg1 Syndrome |
|
Poor eye contact, Stereotypy, Focal-onset seizure, Impaired social interactions, Choreoathetosis,... |
ORPHA:561854 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... |
OMIM:619191 |
Kufor-Rakeb Syndrome |
|
Torticollis, Paraparesis, Seizure, Anosmia, Gait disturbance, Dementia, Bradykinesia, Distal sens... |
OMIM:606693 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Seizure, Ataxia, Progressive microcephaly, Hyperactivity, Hypoplasia of... |
OMIM:613402 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Seizure, Polymicrogyria, Gra... |
OMIM:604213 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Tongue fasciculations, Dysplastic corpus callosum, Poor eye contact, Ataxia, Inability ... |
OMIM:618276 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Seizure, Inability to walk, Spastic paraplegia, Microcephaly |
OMIM:618572 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia, Polymicrogyria, Secondary m... |
OMIM:615282 |
Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Cognitive impairment, Focal imp... |
ORPHA:65683 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Shuffling gait, Bradykinesia, Falls, Apathy, Short stepped shuffling gait, Frontotempor... |
ORPHA:412066 |
Band Heterotopia |
|
Subcortical band heterotopia, Seizure, Polymicrogyria, Spasticity, Gray matter heterotopia, Agene... |
OMIM:600348 |
Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... |
ORPHA:1929 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Hemiparesis, Seizure, Pachygyria, Hypoplasia of the corpus callosum, L... |
OMIM:610031 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Prominent nose, Simplified gyral pattern, Absent septum pellucidum, Seizure, Inability to walk, B... |
OMIM:618492 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Falls... |
OMIM:619150 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cognitive impairment, Seizure, Hypertonia, EEG abnormality, Mi... |
ORPHA:2216 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 58 |
|
Hypsarrhythmia, Stereotypy, Seizure, Status epilepticus, Spastic diplegia, Inability to walk, Sec... |
OMIM:617830 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia, Progressive microcephaly, Seizure, Hypoplasia of the corpus callosum,... |
OMIM:617862 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Focal impaired awareness seizure, Leukoencephalopathy, Stereotypy, Seizure, Bilateral generalized... |
ORPHA:178469 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Poor eye contact, Wide nasal bridge, Tremor, Ataxia, Seizure, Hyperactivity, Spasticity, Hypoplas... |
OMIM:300983 |
Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, EEG with focal epileptiform discharges, Paresthesia, Bilateral tonic-clon... |
ORPHA:98820 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Simplified gyral pattern, Stereotypy, Tremor, Seizure, Spastic tetraparesis, Hyperactivity, Periv... |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Seizure, Gray matter heterotopia, Hypoplasia of the corpus c... |
OMIM:617201 |
Developmental And Epileptic Encephalopathy 6B |
|
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Chore... |
OMIM:619317 |
Pitt-Hopkins-Like Syndrome 1 |
|
Stereotypy, Seizure, Ataxia, Hyperactivity, Generalized-onset seizure, EEG abnormality, Spasticit... |
OMIM:610042 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Seizure, Hyperactivity, Tetraparesis, Spasticity, Mental det... |
OMIM:615924 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor, Seizure, Inability to walk, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Stereotypy |
OMIM:300271 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Acroparesthesia, Partial agenesis of the corpus callosum, Limb... |
ORPHA:101030 |
Lissencephaly 4 |
|
Simplified gyral pattern, Seizure, Hypertonia, Lissencephaly, Agenesis of corpus callosum, Microc... |
OMIM:614019 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Seizure, Polymicrogyria, Spasticity, Hypoplasia of the corpus callosum, Cortical d... |
OMIM:614039 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Chorea, Convulsive status epilepticus, Inability to walk, Stereotypical hand wringing, ... |
OMIM:618760 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Cerebral palsy, Interictal epileptiform activity, EEG with gen... |
ORPHA:163681 |
Hyperprolinemia, Type I |
|
Stereotypy, Seizure, Ataxia, Status epilepticus, Hyperactivity, EEG abnormality |
OMIM:239500 |
Cln5 Disease |
|
Clumsiness, Seizure, Corpus callosum atrophy, Focal-onset seizure, EEG with spike-wave complexes,... |
ORPHA:228360 |
Atypical Rett Syndrome |
|
Poor eye contact, Seizure, Impaired social interactions, Gait disturbance, Tongue thrusting, EEG ... |
ORPHA:3095 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Stereotypy, Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, Motor deteri... |
ORPHA:168491 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Broad nasal tip, Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Microcephaly |
OMIM:617393 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Shyness, Dystonia, Spastic dysarthria, Cerebral cortical atrophy, Stereotypy, Seiz... |
ORPHA:280763 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior |
OMIM:619639 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Chorea, Myoclonus, Seizure, Inability to walk, Hyperkinetic movements, Polymicrogyria, ... |
OMIM:614254 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Photosensitive myoclonic seizure, Focal motor seizure, Astrocytosis, Ataxia, Slowed slurred speech |
OMIM:172500 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... |
OMIM:619301 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Seizure, Attention deficit hyperactivity disorde... |
OMIM:608716 |
Myoclonic-Astatic Epilepsy |
|
Interictal epileptiform activity, Lack of peer relationships, Focal-onset seizure, Anteverted nar... |
ORPHA:1942 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619302 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... |
ORPHA:2382 |
Leber Congenital Amaurosis 10 |
|
Seizure, Hyposmia |
OMIM:611755 |
Autism, Susceptibility To, X-Linked 2 |
|
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... |
OMIM:300495 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... |
OMIM:605361 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Seizure, Tremor, Hyperactivity, Inability to walk, General... |
OMIM:618090 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Infantile spasms, Myoclonus, Focal impaired awareness seizure, Poor eye contact,... |
ORPHA:411986 |
N-Acetylaspartate Deficiency |
|
Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Microcephaly |
OMIM:614063 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Broad nasal tip, Cerebral white matter hypoplasia, Hypsarrhythmia, Seizure, Stereotypical hand wr... |
ORPHA:500545 |
Parkinson Disease 8, Autosomal Dominant |
|
Dementia, Rigidity, Bradykinesia, Lewy bodies, Parkinsonism with favorable response to dopaminerg... |
OMIM:607060 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Neuronal loss in basal ganglia, Rigidity, Chorea, Myoclonus, Bradykinesia, Se... |
ORPHA:248111 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Seizure, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Bilateral Generalized Polymicrogyria |
|
Stereotypy, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnormal hippocamp... |
ORPHA:208447 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Seizure, Pachygyria, Fo... |
OMIM:614563 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Spastic paraplegi... |
OMIM:613162 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Poor eye contact, Stereotypy, Seizure, Ataxia, Inability to walk, Bulbous nose... |
OMIM:617695 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Seizure, Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral... |
ORPHA:500166 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Short nose, Focal i... |
OMIM:245570 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Prominent nasal tip, Choreoathetosis, Short nose, Stereotypy, At... |
OMIM:618218 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... |
OMIM:614306 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Megalencephaly, Wide nasal bridge, Astrocytosis, Seizure, Inability to walk, Difficulty walking |
OMIM:611087 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme |
OMIM:619101 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Seizure, Microcephaly, Cerebral calcification |
ORPHA:1980 |
Superficial Siderosis |
|
Paresthesia, Progressive gait ataxia, Seizure, Abnormal pyramidal sign, Anosmia, Dementia, Dysmet... |
ORPHA:247245 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Dementia, Cerebral atrophy, Corticospinal tract pallor, Astrocytosis |
OMIM:600333 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Leukoencephalopathy, Intention tremor, Abnormality of thalamus morphology, Head trem... |
OMIM:613724 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure |
OMIM:616341 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Gray matter heterotopia, Leukoencephalopathy, Seizure, Hypoplasia o... |
OMIM:615191 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, EEG with occipital epileptiform ... |
OMIM:619428 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Myoclonus, Frontal lobe dementia, Bradykinesia, ... |
OMIM:607136 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Infantile spasms, Impaired pain sensation, Poor eye contact, Multifocal epilept... |
ORPHA:505652 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Seizure, Progressive microcephaly, Stereotypical hand wringing, Hyperkinetic movements, Impaired ... |
ORPHA:397933 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Simple febrile seizure, Gait disturbance, EEG with focal spike waves, Limb myoclonus,... |
ORPHA:352582 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Infantile spasms, Bilateral tonic-clonic seizure, Colpocephaly, Seizu... |
ORPHA:250972 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Periventri... |
OMIM:301008 |
Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
Dermoid Cysts, Familial Frontonasal |
|
Nocturnal seizures, Wide nasal bridge, Seizure, Nasal congestion, Anosmia, Deviated nasal septum |
OMIM:600679 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Wide nasal bridge, Neuronal loss in th... |
ORPHA:168486 |
Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Babinski sign, Paroxysmal dystonia, Dysplastic corpus callosum, Infan... |
ORPHA:2524 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Abnormal cortical gyration, Dementia, Dystonia, Kinetic tremor, Chorea, Cerebral... |
ORPHA:98756 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Stereotypy, Seizure, Mental deterioration, Motor... |
ORPHA:168782 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callosum, Cerebellar gl... |
ORPHA:79243 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Periventricular het... |
OMIM:616212 |
Brain Small Vessel Disease 2 |
|
Bilateral tonic-clonic seizure, Schizencephaly, Spastic tetraplegia, Subcortical heterotopia, Pol... |
OMIM:614483 |
Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Seizure, Focal white matt... |
ORPHA:391417 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Paralysis, Dementia, Myoclonus, Gliosis, Astrocytosis, Ataxia, Hypertonia, Epilepsia partialis co... |
OMIM:203700 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dementia, Rigidity, Frequent falls, Gliosis, Shuffling gait, Bradykinesia, Lewy bodies,... |
ORPHA:411602 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:101039 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Bilateral t... |
ORPHA:79264 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Simplified gyral pattern, Seizure, Bulbous nose, Spasticity, Agenesis of corp... |
OMIM:617090 |
Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Young-Onset Parkinson Disease |
|
Dystonia, Dementia, Gait imbalance, Rigidity, Cognitive impairment, Frontal lobe dementia, Bradyk... |
ORPHA:2828 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Seizure, Polymicrogyria, EEG abnormality, Spasticity, Abnormal pyrami... |
OMIM:614833 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Dystonia, Depressed nasal bridge, Chorea, Tongue thrusting, Poor eye contact, Simplifi... |
OMIM:613454 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Cognitive impairment, Spastic tetraplegia, Seizure, Spastic diplegia, Spasticity, Gray matter het... |
OMIM:617008 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seiz... |
ORPHA:485350 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Seizure, Hypertonia, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, M... |
OMIM:274270 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
ORPHA:289266 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Seizure, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type II li... |
ORPHA:352682 |
Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Wide nasal bridge, Cerebral atrophy |
OMIM:609924 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Choreoathetosis, Flared nostrils, Wide nasal bridge, Seizure, Basal ganglia cysts, Epis... |
OMIM:312170 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Dementia, Gait disturbance, Frequent falls, Dysmetria, Chorea,... |
ORPHA:157941 |
Huntington Disease |
|
Dementia, Rigidity, Chorea, Gliosis, Bradykinesia, Seizure, Gait ataxia |
OMIM:143100 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Seizure, Hyperactivity, Inability to walk, EEG abnormality, Spasticity, Micro... |
OMIM:618718 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Dystonia, Myoclonus, Cerebral cortical atrophy, Hypsarrhythmia, Seizure, Spasticity, Agenesis of ... |
OMIM:617669 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... |
ORPHA:544254 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Poor coordination, Prominent nasal bridge, Hyperactivity, Stereotypical body rocking, Recurrent h... |
OMIM:309548 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis, Seizure, EEG abnormality, Mental deterioration, Lethargy |
OMIM:613002 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... |
OMIM:619092 |
Autism, Susceptibility To, 3 |
|
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... |
OMIM:608049 |
Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... |
ORPHA:86909 |
Mental Retardation, Autosomal Dominant 43 |
|
Wide nasal bridge, Prominent nasal bridge, Seizure, Hyperactivity, Cerebral atrophy, Hypoplasia o... |
OMIM:616977 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gait disturbance, Gliosis, Tremor, Seizure, Hyperkinetic movem... |
OMIM:300957 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Seizure, Polymicrogyria, ... |
ORPHA:300570 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Poor motor coordination, Caudate atrophy, Cognitive impair... |
ORPHA:363400 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Seizure, Atax... |
ORPHA:255138 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Cerebral palsy, Wide nasal bridge, Stereotypy, Repetitive compulsive behavio... |
ORPHA:352490 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Microlissencephaly, Wide nose, Wi... |
ORPHA:89844 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Neurofibrillary tangles, Myoclonus, Seizure, Oculomotor apraxia, Hyp... |
ORPHA:1020 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Stereotypy, Seizure, Ataxia, Hyperactivity, Upper motor neuron dysfunction, Abno... |
ORPHA:530983 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Spasticity... |
OMIM:612716 |
Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Seizure, Posterior predominant thick cortex pachygyria, Agyria,... |
ORPHA:95232 |
Obesity, Hyperphagia, And Developmental Delay |
|
Seizure, Poor eye contact, Stereotypy |
OMIM:613886 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... |
OMIM:604360 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Steppage gait, Positive Romberg sign, Vocal cord pares... |
OMIM:601152 |
Alg11-Cdg |
|
Limb hypertonia, Opisthotonus, Cerebral white matter atrophy, Abnormal cerebral white matter morp... |
ORPHA:280071 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Frequent falls, Pachygyria, Tip-toe gait, Abnormal cerebral white matter morphology, Gray matter ... |
ORPHA:370980 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dystonia, Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Spastic tetraparesis, Se... |
OMIM:614924 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tonic seizure, Short nose, Poor eye contact, Stereotypy, Stereotypical body rocking, Anteverted n... |
OMIM:300912 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Paroxysmal dystonia, Increased theta frequency activity in EEG, Bilateral ... |
ORPHA:98784 |
Chromosome 3Q29 Deletion Syndrome |
|
Prominent nasal bridge, Stereotypy, Hyperactivity, Gait ataxia, Microcephaly |
OMIM:609425 |
Mental Retardation, Autosomal Dominant 48 |
|
Prominent nasal bridge, Stereotypy, Seizure, Low hanging columella, Polymicrogyria, Anteverted na... |
OMIM:617751 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Dystonia, Rigidity, Abnormal globus pallidus morphology, Bradykinesia, Astrocyt... |
ORPHA:309854 |
Fraxe Intellectual Disability |
|
Clumsiness, Prominent nasal bridge, Stereotypical body rocking, Hyperactivity, Recurrent hand fla... |
ORPHA:100973 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb hypertonia, Poor eye contact, Stereotypy, Seizure, Underdeveloped nasal alae, Depressed nasa... |
ORPHA:457351 |
Mucolipidosis Iv |
|
Dystonia, Babinski sign, Dysplastic corpus callosum, Progressive neurologic deterioration, Spasti... |
OMIM:252650 |
Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, Infantile spasms, Hypsarrhythmia, Seizure, Hypertonia, Bulbous nose, Cerebral atr... |
OMIM:618916 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... |
OMIM:610245 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Anosmia |
OMIM:614879 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Rigidity, Periventricular heterotopia, Spastic tetraplegia, Seizure, Ataxia, Spasticity, Abnormal... |
OMIM:618476 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Seizure, Spasticity, Anteverted nares, Recurrent hand flapping, Hypoplasia of the corpus callosum... |
OMIM:618859 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Ataxia, Status epilepticus, Hyperactivity, Hyperkinetic ... |
OMIM:271980 |
Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... |
ORPHA:382 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Seizure, Gray matter heterotopia |
OMIM:300049 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the inter... |
OMIM:615673 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Prominent nose, Hyperactivity, Microcephaly, Stereotypy |
OMIM:615541 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Christianson Syndrome |
|
Dystonia, Stereotypy, Abnormality of the nose, Generalized-onset seizure, Truncal ataxia, Aplasia... |
ORPHA:85278 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Depressed nasal bridge |
ORPHA:85288 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Seizure, H... |
OMIM:618877 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
Ck Syndrome |
|
Abnormal cerebral cortex morphology, Prominent nasal bridge, Seizure, Pachygyria, Hyperactivity, ... |
ORPHA:251383 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Dystonia, Dysplastic corpus callosum, Focal impaired awareness seizure, Prominent nasa... |
ORPHA:357058 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Stereotypy, Seiz... |
OMIM:614104 |
Developmental And Epileptic Encephalopathy 2 |
|
Infantile spasms, Myoclonus, Multifocal seizures, Poor eye contact, Hypsarrhythmia, Stereotypy, S... |
OMIM:300672 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cognitive impairment, Astrocytosis, Seizure, Pachygyria, Inability to walk, Cerebral edema, Focal... |
ORPHA:258 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosum, Short ... |
OMIM:619179 |
Infantile Neuroaxonal Dystrophy |
|
Progressive spasticity, Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, C... |
ORPHA:35069 |
Mental Retardation, Autosomal Recessive 41 |
|
Seizure, Broad nasal tip, Stereotypy |
OMIM:615637 |
Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Ante... |
ORPHA:1934 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:618906 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... |
ORPHA:255 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Poor eye contact, Stereotypy, Seizure, Spasticity, Unsteady gait, Gait ataxia, Difficul... |
OMIM:617807 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Gait disturbance, Short nose, Seizure, Microcephaly |
ORPHA:3307 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Depressed nasal bridge, Stereotypy, Seizure, Inability to walk, Hypoplasi... |
DECIPHER:45 |
Mental Retardation, Autosomal Recessive 61 |
|
Babinski sign, Prominent nose, Hyperactivity, Bulbous nose, EEG abnormality, Spasticity, Secondar... |
OMIM:617773 |
Potocki-Lupski Syndrome |
|
Prominent nasal tip, Poor eye contact, Stereotypy, Seizure, Hyperactivity, EEG abnormality, Hypop... |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Absent brainstem auditory responses, Decreased nerve conduction velocity... |
OMIM:609136 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration, Seizure, Abnormal nasal bridge morphology |
OMIM:614887 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose, Speech apraxia, Stereotypy, Attention deficit hyperactivity disorder |
OMIM:613670 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Limb hypertonia, Opisthotonus, Tonic seizure, Choreoathetosis, Bilateral tonic-clonic seizure, My... |
OMIM:619580 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Periventricular heterotopia, Prominent nasal bridge, Seizure, Attention d... |
OMIM:618974 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, Microcephaly |
OMIM:302950 |
Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Periventricular nodular heterotopia, Wide nasal bridge, Bifid nose, Seizure, Hyp... |
OMIM:603671 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Seizure, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:164180 |
Fragile X Syndrome |
|
Seizure, Hyperactivity, Poor eye contact, Periventricular heterotopia |
OMIM:300624 |
Microphthalmia-Brain Atrophy Syndrome |
|
Multifocal seizures, Tongue thrusting, Corpus callosum atrophy, Generalized-onset seizure, Spasti... |
ORPHA:77299 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Seizure, Anosmia |
OMIM:610628 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Depressed nasal bridge, Seizure, Bulbous nose, EEG abnormality, Cerebral atrophy, Anteverted nare... |
OMIM:617268 |
Radio-Tartaglia Syndrome |
|
Prominent nasal tip, Gait imbalance, Depressed nasal bridge, Poor eye contact, Prominent nasal br... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Depressed nasal bridge, Rigidity, Tonic seizure, Chorea, Lower limb spast... |
OMIM:300260 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Depressed nasal bridge, Simplified gyral pattern, Tremor, Seizure, Hyperactivity, Bulbous nose, P... |
OMIM:300354 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Dysmetria, Myoclonus, Seizure, Ataxia, Agenesis of corpus callosum |
OMIM:250620 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Gliosis, Stereotypy, Tre... |
ORPHA:457240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Depressed nasal bridge, Microcephaly |
OMIM:300434 |
Kallmann Syndrome |
|
Gait disturbance, Paraplegia, Seizure, Ataxia, Tremor, Hypothalamic gonadotropin-releasing hormon... |
ORPHA:478 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Limb hypertonia, Paraparesis, Seizure, Focal sensory seizure, ... |
ORPHA:98889 |
Ck Syndrome |
|
Prominent nasal bridge, Seizure, Pachygyria, Hyperactivity, Polymicrogyria, Microcephaly |
OMIM:300831 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Stereotypy, Seizure, Tetraparesis, Hypoplasia of the corpus callosum, Cerebral cortic... |
ORPHA:85277 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Hyposmia |
OMIM:612702 |
Shukla-Vernon Syndrome |
|
Wide nasal base, Stereotypy, Seizure, Broad-based gait, Attention deficit hyperactivity disorder |
OMIM:301029 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Gait disturbance, Prominent nasal bridge, Tremor, Oculomotor a... |
ORPHA:475 |
Meningioma |
|
Hypothalamic hypothyroidism, Focal T2 hypointense thalamic lesion, Seizure, Focal-onset seizure, ... |
ORPHA:2495 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Depressed nasal bridge, Seizure, Hyperactivity, Spasticity, Decreased response to growth hormone ... |
OMIM:615286 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Seizure, Anosmia |
OMIM:244200 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge, Cerebral calcification |
ORPHA:377 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly |
OMIM:236795 |
Holoprosencephaly |
|
Abnormality of neuronal migration, Dystonia, Depressed nasal ridge, Chorea, Cognitive impairment,... |
ORPHA:2162 |
Refsum Disease, Classic |
|
Ataxia, Anosmia, Somatic sensory dysfunction |
OMIM:266500 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Prominent nasal bridge, Wide nasal bridge, Seizure, Pachygyria, Spasticity, Lissencephal... |
OMIM:300215 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Depressed nasal bridge, Dysplastic corpus callosum, Ster... |
OMIM:619103 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Abnormality of the sense of smell, Agenes... |
ORPHA:2189 |
Cockayne Syndrome Type 3 |
|
Narrow nose, Abnormality of peripheral nerve conduction, Cerebral white matter atrophy, Cognitive... |
ORPHA:90324 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dementia, Dystonia, Punctate pe... |
ORPHA:309271 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Cessation of head growth |
ORPHA:411515 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Seizure, Agyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:616342 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Seizure, Anterior pituitary hypoplasia, Anosmia,... |
ORPHA:3157 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:615267 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dystonia, Punctate periventricu... |
ORPHA:309263 |
Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Seizure, Hyperactivity, Secondary mi... |
ORPHA:98794 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Wide nasal bridge, Seizure, EEG abnormality, Anteverted nares |
ORPHA:44 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Seizure, Hemiplegia/hemiparesis |
ORPHA:65 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Seizure, Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum |
OMIM:619466 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Painless fractures due to injury, Pain insensitivity, Anosmia, Hyposmia |
OMIM:243000 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Short nose, Seizure, Hypertonia, Anteverted nares, Choanal atr... |
ORPHA:1895 |
Bardet-Biedl Syndrome 17 |
|
Cognitive impairment, Anosmia, Hyposmia, Poor coordination |
OMIM:615994 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Babinski sign, Abnormal periventricular white matter morpholog... |
OMIM:608840 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Seizure, Hyperactivity, Broad-based gait, Spasticity, Hypoplasia of the corpus callosum, Cortical... |
ORPHA:457260 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Anosmia, Agenesis of corpus callosum |
OMIM:147950 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal bridge, Rigidity, ... |
ORPHA:35107 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Lewy bodies, Intention tremor, Seizure,... |
OMIM:610217 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Stereotypy, Seizure, Frontal cortical atrophy, Anteverted nares, Hypoplasia of the co... |
ORPHA:228384 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Anencephaly, Seizure, Spasticity, Gray matter heterotopia, Type II lissencephaly, Cortical dyspla... |
OMIM:615287 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614838 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Clumsiness, Bilateral tonic-clonic seizure, Short nose, Prominent nasal bridge, Seizure, Hyperact... |
OMIM:300558 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... |
ORPHA:2512 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Distal sensory impairment, Anosmia, Hyposmia |
OMIM:608720 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Prominent nasal bridge, Seizure, Bulbous nose, Small basal ganglia, P... |
OMIM:616900 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment, Seizure, Pachygyria, Hypertonia, EEG abn... |
ORPHA:2065 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue th... |
ORPHA:98795 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Wide nasal bridge, Seizure, Hypertonia, Anteverted nares, Cere... |
ORPHA:2518 |
Rett Syndrome |
|
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Stereotypy, Seizure, Primary microcephaly... |
ORPHA:778 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Anosmia,... |
OMIM:308700 |
Microhydranencephaly |
|
Athetosis, Hydranencephaly, Prominent nasal bridge, Spastic tetraplegia, Pachygyria, Generalized ... |
OMIM:605013 |
Refsum Disease |
|
Abnormal pyramidal sign, Anosmia, Ataxia, Hemiplegia/hemiparesis |
ORPHA:773 |
Kohlschutter-Tonz Syndrome-Like |
|
Stereotypy, Seizure, Focal-onset seizure, Generalized tonic seizure, Nocturnal seizures, Multifoc... |
OMIM:619229 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Gliosis, Stereotypy |
OMIM:172700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Spastic ... |
OMIM:308750 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Myoclonus, Short nose, Poor eye contact, Seizure, Hyperactivity, Inability to walk,... |
OMIM:103050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Wide nasal bridge, Seizure, Hyperactivity, Bulbous nose, Broad-based gait, Spasticity, Anteverted... |
OMIM:300958 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Underdeveloped nasal alae, Recurrent bronchitis, Wide nose, Wide nasal bridge, Narrow nasal ridge... |
OMIM:619293 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Anosmia, Depressed nasal bridge |
OMIM:113480 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Seizure, Microcephaly, Cerebral atrophy |
OMIM:300337 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... |
ORPHA:139396 |
Angelman Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus, Tongue thrusting, Poor eye contact, ... |
ORPHA:72 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Broad nasal tip, Short nose, Prominent nasolabial fold, Repetitive compulsive b... |
ORPHA:391372 |
Mental Retardation, Autosomal Recessive 13 |
|
Wide nasal bridge, Seizure, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum |
OMIM:613192 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Gait disturbance, Dystonia, Poor hand-eye coordination, Stereotypy, Seizure, Attention deficit hy... |
OMIM:300352 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Clonus, Hair-pulling, Myoclonic spasms, Depressed nasal bridge, Bilateral tonic-clonic seizure, I... |
ORPHA:447997 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Cognitive impairment, Stereotypy, Seizure, Ataxia, Microcephaly, Lethargy |
ORPHA:927 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Babinski sign, Dystonia, Punctate periventricular T2 hyperintense foci, Frequent fall... |
ORPHA:309256 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Prominent nasal bridge, Stereotypy, Seizure, Low hanging columella, Polymicrogyria, Anteverted na... |
ORPHA:500159 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell, Microcephaly |
ORPHA:3201 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Short nose, Hyperactivity, Tics, Hypertonia, Broad columella, Progressive... |
OMIM:617865 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Suicidal ideation, Cognitive impairment, Irritability, Anhedonia, Emotional lab... |
ORPHA:96369 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Solitary Median Maxillary Central Incisor |
|
Midnasal stenosis, Decreased response to growth hormone stimulation test, Pyriform aperture steno... |
OMIM:147250 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Prominent nasal tip, Depressed nasal bridge, EEG with multifocal slow activity, Seizure, Hyperact... |
OMIM:616809 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Wide nasal bridge, Stereotypy, Seizure, Hyperactivity, EEG abnormality |
OMIM:182290 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy |
OMIM:618504 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:619467 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Infantile spasms, Tonic seizure, Hypsarrhythmia, Seizure, Hyperactivity, EEG with burst suppressi... |
OMIM:619239 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Encephalomalacia, Hemipare... |
ORPHA:68 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Poor eye contact, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Hyperac... |
ORPHA:449291 |
Alazami-Yuan Syndrome |
|
Prominent nose, Underdeveloped nasal alae, Prominent nasal bridge, Hyperactivity, Microcephaly |
OMIM:617126 |
Optic Atrophy 11 |
|
Dysmetria, Leukoencephalopathy, Ataxia, Hyperactivity, Hyperkinetic movements, Microcephaly |
OMIM:617302 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Babinski sign, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Spastic gait, Spastic tetrapl... |
OMIM:619121 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait disturbance, Multifocal cerebral white matter abnormalities, Gait imbalance, Dysplastic corp... |
ORPHA:488627 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait |
OMIM:618205 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Clonus, Diffuse white matter abnormalities, Agenesis of corpus callosum, Seizure, Polymicrogyria,... |
ORPHA:370959 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Freesia Flowers, Inability To Smell |
|
Specific anosmia |
OMIM:229250 |
2Q23.1 Microdeletion Syndrome |
|
Stereotypy, Seizure, Ataxia, Hyperactivity, Microcephaly |
ORPHA:228402 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Stereotypy, Tremor, Seizure, Agenesis of corpus callosum |
ORPHA:238750 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Dysmetria, Wide nose, Intention tremor, Ataxia, Anteverted nares, Bul... |
ORPHA:314647 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Vocal cord paraly... |
ORPHA:500144 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Gonadotropin deficiency, Anosmia |
OMIM:614837 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Gliosis, Cerebral cortical atrophy, Lewy bodies, Repetitive compulsive b... |
OMIM:607485 |
Johnson Neuroectodermal Syndrome |
|
Anosmia, Choanal atresia, Bulbous nose, Microcephaly |
ORPHA:2316 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Seizure, Cognitive impairment, Depressed nasal bridge |
ORPHA:93274 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Prominent nasal bridge, Seizure, Ataxia, Aplasia/Hypoplasia of... |
ORPHA:2318 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Tongue thrusting, Seizure, Ataxia, Secondary microcephaly, EEG abnormality, Broad... |
ORPHA:411511 |
Pseudo-Torch Syndrome 2 |
|
Seizure, Polymicrogyria, Cerebral calcification, Gray matter heterotopia, Microcephaly, Lethargy |
OMIM:617397 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Underdeveloped nasal alae, Stereotypy, Seizure, Ataxia, Hypertonia, Attention d... |
OMIM:300986 |
Vici Syndrome |
|
Seizure, Depressed nasal tip, EEG abnormality, Gray matter heterotopia, Agenesis of corpus callos... |
ORPHA:1493 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Prominent nasal tip, EEG with series of focal spikes, Choreoathetosis, Chorea, Short no... |
ORPHA:522077 |
Bainbridge-Ropers Syndrome |
|
Underdeveloped nasal alae, Long nose, Prominent nasal bridge, Seizure, Low hanging columella, Ina... |
ORPHA:352577 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Absent septum pellucidum, Seizure,... |
ORPHA:899 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Depressed nasal bridge, Short nose, Hypertonia, Generalized-on... |
ORPHA:261236 |
Man1B1-Cdg |
|
Underdeveloped nasolabial fold, Prominent nose, Periventricular heterotopia, Wide nose, Wide nasa... |
ORPHA:397941 |
3P25.3 Microdeletion Syndrome |
|
Prominent nose, Depressed nasal bridge, Bilateral tonic-clonic seizure, Cerebral white matter atr... |
ORPHA:435638 |
Johnson Neuroectodermal Syndrome |
|
Anosmia, Microcephaly, Choanal stenosis |
OMIM:147770 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Phonic tics, Seizure, Frontal cortical atrophy, Abnormal hippocampus morp... |
ORPHA:2388 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Short nose, Seizure, Oculomotor apraxia, Anteverted nares, Aplasia/Hypopl... |
OMIM:617822 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Simplified gyral pattern, Seizure, Bulbous nose, Gray matter heterotopia, Lissencep... |
OMIM:615219 |
Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Gliosis,... |
OMIM:168601 |
Smith-Magenis Syndrome |
|
Gait disturbance, Depressed nasal bridge, Impaired pain sensation, Short nose, Wide nasal bridge,... |
ORPHA:819 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Seizure, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Di... |
ORPHA:531151 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Depressed nasal ridge, Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Coffin-Siris Syndrome 6 |
|
Broad nasal tip, Depressed nasal bridge, Stereotypy, Tics, Periventricular leukomalacia, Attentio... |
OMIM:617808 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Short nasal bridge, Prominent nasal bridge, Repetitive compulsive behavior, Seizure, Spasticity, ... |
ORPHA:401777 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Broad nasal tip, Stereotypy, Seizure, Hyperactivity, Microcephaly |
ORPHA:3306 |
Congenital Hypothyroidism |
|
Depressed nasal ridge, Anosmia, Paresthesia, Anterior hypopituitarism |
ORPHA:442 |
Phelan-Mcdermid Syndrome |
|
Impaired pain sensation, Tongue thrusting, Poor eye contact, Concave nasal ridge, Stereotypy, Sei... |
OMIM:606232 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Seizure, Attention ... |
ORPHA:261197 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
Gand Syndrome |
|
Hyperactivity, Tics, Broad nasal tip, Wide nasal bridge |
OMIM:615074 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Gait disturbance, Depressed nasal bridge, Megalencephaly, Abnormal corpus callosum morphology, Se... |
ORPHA:457485 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Short nose, Stereotypy, Seizure, Bulbous nose, Agenesis of corpus callosu... |
ORPHA:261144 |
Pyruvate Carboxylase Deficiency |
|
Dystonia, Infantile spasms, Cerebellar gliosis, Periventricular cysts, Hyperintensity of cerebral... |
ORPHA:3008 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Stereotypy, Seizure, Polymicrogyria, Cerebral atrophy, Cerebral hypoplasia, Abnormal pyramidal si... |
ORPHA:468631 |
8Q21.11 Microdeletion Syndrome |
|
Abnormality of the sense of smell, Wide nose, Aplasia/Hypoplasia of the corpus callosum, Underdev... |
ORPHA:284160 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Prominent nose, Stereotypy, Hyperactivity, Abnormal cerebral white matter morphology, Hypoplasia ... |
ORPHA:391307 |
Miller-Dieker Lissencephaly Syndrome |
|
Midline brain calcifications, Infantile spasms, Short nose, Wide nasal bridge, Seizure, Pachygyri... |
OMIM:247200 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Ster... |
ORPHA:217253 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Cognitive impairment, Aggressive behavior, Hyperactivity, Attention d... |
ORPHA:43 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Prominent nose, Long nose, Stereotypy, Seizure, Hyperactivity, Spasticity, Gait ataxia |
OMIM:300486 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Infantile spasms, Anteverted nares, Spasticity, Cerebral atrophy, Gray ma... |
OMIM:618797 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Depressed nasal bridge, Periventricular nodular heterotopia, Seizure, Hypertonia, Bulbous nose, A... |
OMIM:619188 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hemiparesis, Seizure, Unst... |
OMIM:617542 |
Hyperostosis Cranialis Interna |
|
Hyposmia |
OMIM:144755 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Seizure, EEG abnormality, Hemiparesis |
ORPHA:2481 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure, Stereotypy, Broad-based gait, Anteverted nares, Secondary microce... |
OMIM:616351 |
Niemann-Pick Disease, Type C2 |
|
Dystonia, Dementia, Cataplexy, Stereotypy, Seizure, Ataxia, Spasticity, Neurofibrillary tangles |
OMIM:607625 |
Gomez-Lopez-Hernandez Syndrome |
|
Cognitive impairment, Short nose, Seizure, Ataxia, Hypertonia, Hyperactivity, Anteverted nares, D... |
OMIM:601853 |
Chromosome 5P13 Duplication Syndrome |
|
Wide nasal bridge, Stereotypy, Seizure, Bulbous nose, Agenesis of corpus callosum |
OMIM:613174 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Non-convulsive status epilepticus without coma, Dysplastic corpus callos... |
ORPHA:544488 |
6Q Terminal Deletion Syndrome |
|
Abnormality of neuronal migration, Periventricular heterotopia, Dysmetria, Colpocephaly, Abnormal... |
ORPHA:75857 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
48,Xxyy Syndrome |
|
Stereotypy, Tremor, Ataxia, Seizure, Attention deficit hyperactivity disorder |
ORPHA:10 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Oculomotor apraxia, Abnormal periventricular white matter morphology |
OMIM:615960 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Ataxia, Opisthotonus, Agenesis of corpus callosum |
OMIM:207950 |
Helsmoortel-Van Der Aa Syndrome |
|
Broad nasal tip, Short nose, Wide nasal bridge, Stereotypy, Seizure, Hyperactivity, Anteverted na... |
OMIM:615873 |
Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Progressive neurologic deterioration, Progressive gait ataxia, Seizure, Fr... |
ORPHA:646 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Short nose, Abnormality of the nares |
ORPHA:1295 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Seizure, Intracerebral periventricular calcifications, Basal g... |
OMIM:608836 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency |
OMIM:618841 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Gait disturbance, Prominent nasal bridge, Tremor, Oculomotor a... |
ORPHA:1454 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), ... |
ORPHA:496641 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Wide nasal bridge, EEG with generalized slow activity, Stereotypy |
ORPHA:397612 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Chorea, Seizure, Ataxia, Hypertonia, Hyperactivity, Microcephaly |
ORPHA:52503 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Short nose, Wide nasal bridge, Multifocal epileptiform discharges, Ataxia... |
ORPHA:369891 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Seizure |
OMIM:617622 |
Periventricular Nodular Heterotopia 9 |
|
Periventricular nodular heterotopia, Interictal epileptiform activity, Polymicrogyria, Broad-base... |
OMIM:618918 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Periventricular nodular heterotopia, Prominent nasal bridge, Wide nasal bridge, Seizure, Low hang... |
OMIM:618659 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Dysplastic corpus callosum, Short nose, Bifid nasal tip, Agenesis of corpu... |
OMIM:616854 |
Coffin-Lowry Syndrome |
|
Progressive spasticity, Abnormality of neuronal migration, Gait disturbance, Depressed nasal brid... |
ORPHA:192 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Dysgenesis of the hippocampus, Bilateral tonic-clonic seizure, Chorea, Wide nasal brid... |
OMIM:619435 |
22Q11.2 Duplication Syndrome |
|
Depressed nasal ridge, Wide nose, Stereotypy, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:1727 |
8P11.2 Deletion Syndrome |
|
Seizure, Anosmia, Depressed nasal bridge, Microcephaly |
ORPHA:251066 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Seizure, Cognitive impairment |
ORPHA:2063 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral white matter atrophy, Tetraplegia, Hyperactivity, Corpus callosum atrophy, Microcephaly,... |
ORPHA:369939 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Cri-Du-Chat Syndrome |
|
Wide nasal bridge, Stereotypy, Hyperactivity, Hypertonia, Overfriendliness, Difficulty walking, M... |
OMIM:123450 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
Oculocerebrodental Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Focal white matter lesions... |
ORPHA:557003 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Infantile spasms, Periventricular heterotopia, Focal impaired awareness s... |
OMIM:618929 |
Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Stereotypy, Seizure, Ataxia, EEG abnormality, Microcephaly |
ORPHA:2479 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Seizure, Depressed nasal bridge |
ORPHA:2655 |
Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Opisthotonus, Agenesis of corpus callosum, Paraplegia, P... |
ORPHA:1136 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Gait disturbance, Dementia, Dystonia, Cerebral degeneration, Rigidity, Choreoatheto... |
OMIM:234200 |
Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Impaired pain sensation, Microcephaly, Stereotypy |
OMIM:616579 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Wide nasal bridge, Ataxia, Bilateral choanal atresia/stenosis, Gray m... |
ORPHA:314679 |
Angelman Syndrome |
|
Clumsiness, Limb tremor, Progressive gait ataxia, Seizure, Hyperactivity, EEG abnormality, Broad-... |
OMIM:105830 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Seizure, Attention deficit hyperactivity disorder, Stereotypy |
ORPHA:313892 |
Distal Xq28 Microduplication Syndrome |
|
Broad nasal tip, Epistaxis, Poor eye contact, Stereotypical body rocking, Recurrent upper respira... |
ORPHA:293939 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Short nose, Abnormal corpus callosum morphology, Stereotypy, Seizure, Ataxia, Cavum septum pelluc... |
ORPHA:457279 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Campomelic Dysplasia |
|
Abnormality of the sense of smell, Depressed nasal bridge |
ORPHA:140 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Underdeveloped nasal alae, Depressed nasal bridge, Stereotypy, Low hanging columella, Anteverted ... |
OMIM:618825 |
Hyperlysinemia |
|