Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
Alzheimer Disease 10 |
|
Dementia, Memory impairment |
OMIM:609636 |
Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Foix-Chavany-Marie Syndrome |
|
Cognitive impairment, Gait disturbance |
ORPHA:2048 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Restlessness, Astrocytosis, Disinhibition, Collectionism, Bilateral tonic-cloni... |
ORPHA:275864 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, EEG with focal spikes, Abnormal basal ganglia morphology, Subcortical heterotopia... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Thin corpus callosum, Cortical dysplasia, Gray matter heterotopia, Seizure, Pachygyria, Microceph... |
OMIM:615411 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ataxia, Attention deficit hyperactivity disorder, Seizure, M... |
OMIM:618709 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Infantile spasms, Hypsarrhythmia, Myoclonic seizure, Generalized-onset seizure, Thick cerebral co... |
OMIM:618677 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Dementia, Progressive cerebellar ataxia, Memory impairment |
ORPHA:85292 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired social interactions, Unsteady gait, EEG abnormality, Bilateral tonic-clonic seizure, Sei... |
OMIM:608636 |
Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Focal cortical dysplasia type II, Focal white matter lesions, Astrocytosis, C... |
OMIM:607341 |
Lissencephaly 3 |
|
Polymicrogyria, Ataxia, Bilateral tonic-clonic seizure, Gray matter heterotopia, Seizure, Pachygy... |
OMIM:611603 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Infantile spasms, Hypsarrhythmia, EEG with changes in voltage, Gray matter heterotopia, Seizure, ... |
ORPHA:1084 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Hypsarrhythmia, Periventricular nodular heterotopia, Progressive microcephaly, Seizure, Microceph... |
OMIM:608097 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Hyperactivity, Schizencephaly, Generalized-onset seizure, EEG abnormality, Simpli... |
OMIM:604317 |
Hemimegalencephaly |
|
Focal cortical dysplasia, Polymicrogyria, Status epilepticus, Hemimegalencephaly, EEG with focal ... |
ORPHA:99802 |
Huntington Disease |
|
Inability to walk, Agitation, Mental deterioration, Gait imbalance, Bradyphrenia, Polyphagia, Gai... |
ORPHA:399 |
Sporadic Creutzfeldt-Jakob Disease |
|
Hypsarrhythmia, Cerebral atrophy, Ataxia, Astrocytosis, Cognitive impairment, Dementia, Memory im... |
ORPHA:204 |
Autism, Susceptibility To, 8 |
|
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... |
OMIM:607373 |
Autism |
|
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... |
OMIM:209850 |
Lissencephaly 1 |
|
Secondary microcephaly, Gray matter heterotopia, Seizure, Pachygyria, Abnormal cerebral white mat... |
OMIM:607432 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Gait disturbance, Restlessness, Astrocytosis, Disinhibition, Frontotemporal dementia, Memory impa... |
OMIM:600795 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Inability to walk, Impaired social interactions, Pachygyria |
OMIM:606053 |
Microlissencephaly |
|
Bilateral tonic-clonic seizure with generalized onset, Polymicrogyria, Neuronal loss in the cereb... |
ORPHA:1083 |
Symmetrical Thalamic Calcifications |
|
Ataxia, EEG abnormality, Cognitive impairment, Cerebral calcification, Seizure, Microcephaly, Abn... |
ORPHA:1314 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Seizure, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus c... |
OMIM:300067 |
Nodular Neuronal Heterotopia |
|
EEG abnormality, Seizure, Abnormality of neuronal migration |
ORPHA:2149 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Focal-onset seizure, Focal motor status epilepticus, Ataxia, Falls, EEG abnormality, Inappropriat... |
OMIM:619150 |
Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... |
ORPHA:300573 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Gray matter ... |
OMIM:604213 |
Foxg1 Syndrome |
|
Infantile spasms, Status epilepticus, Impaired social interactions, Focal-onset seizure, Progress... |
ORPHA:561854 |
Isolated Focal Cortical Dysplasia |
|
Abnormal cortical gyration, Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Fo... |
ORPHA:65683 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Seizure, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Periventricular Nodular Heterotopia 6 |
|
Infantile spasms, Hypsarrhythmia, Periventricular nodular heterotopia, Focal motor seizure, Seizure |
OMIM:615544 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Ataxia, Basal ganglia cysts, Astrocytosis, Loss of ambulation, Atrophy/Degenera... |
ORPHA:225154 |
Familial Focal Epilepsy With Variable Foci |
|
Infantile spasms, Paresthesia, Polymicrogyria, Focal-onset seizure, Hemimegalencephaly, Focal cor... |
ORPHA:98820 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Infantile spasms, Polymicrogyria, Partial agenesis of the corpus callosum, Generalized-onset seiz... |
OMIM:610031 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder |
OMIM:617787 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Impaired social interactions, Inability to walk, EEG abnormality, Seizure, Abnormal repetitive ma... |
OMIM:617820 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Seizure, Periventricular nodular heterotopia, Inability to walk, Microcephaly |
OMIM:618572 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... |
OMIM:614039 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... |
OMIM:619191 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Seizure, Abnormal cerebral... |
ORPHA:500166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Polymicrogyria, Secondary microcephaly, Clonic seizure, Seizure, Microcephaly, Cortical dysplasia... |
OMIM:615282 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Periventricular nodular heterotopia, Reduced cerebral white matter volume |
OMIM:618185 |
Autism, Susceptibility To, X-Linked 3 |
|
Abnormal repetitive mannerisms, Seizure, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Abnormal repetitive mannerisms, Seizure, EEG abnormality |
OMIM:300425 |
Hyperlysinemia, Type I |
|
Cognitive impairment, Hyperactivity |
OMIM:238700 |
Developmental And Epileptic Encephalopathy 58 |
|
Status epilepticus, Hypsarrhythmia, Inability to walk, Secondary microcephaly, Seizure, Abnormal ... |
OMIM:617830 |
Inherited Creutzfeldt-Jakob Disease |
|
Focal T2 hyperintense basal ganglia lesion, Progressive cerebellar ataxia, Astrocytosis, EEG with... |
ORPHA:282166 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Polymicrogyria, Inability to walk, Cerebral atrophy, Myoclonic seizure, Bruxism, EEG abnormality,... |
OMIM:614254 |
Maternal Hyperthermia-Induced Birth Defects |
|
EEG abnormality, Cognitive impairment, Seizure, Microcephaly, Abnormality of neuronal migration |
ORPHA:2216 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Inability to walk, Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Attentio... |
OMIM:618492 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Seizure, Hyperactivity |
OMIM:300271 |
Pitt-Hopkins-Like Syndrome 1 |
|
Focal cortical dysplasia, Status epilepticus, Impaired social interactions, Bilateral tonic-cloni... |
OMIM:610042 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Progressive microcephaly, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Abnormal repeti... |
OMIM:617862 |
Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Status epilepticus, Abnormal eating behavior, Focal-onset seizure, Hy... |
ORPHA:101039 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... |
OMIM:600512 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Status epilepticus, Agitation, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal repetiti... |
OMIM:617171 |
Subependymal Nodular Heterotopia |
|
EEG with temporal focal spike waves, Focal cortical dysplasia, Polymicrogyria, Limb myoclonus, Fo... |
ORPHA:101030 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Periventricular white matter hyperintensities, Hyperactivity, Simplified gyral pattern, Seizure, ... |
OMIM:619470 |
Hyperprolinemia, Type I |
|
Status epilepticus, Hyperactivity, Ataxia, EEG abnormality, Seizure, Abnormal repetitive mannerisms |
OMIM:239500 |
Leber Congenital Amaurosis 10 |
|
Seizure, Hyposmia |
OMIM:611755 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Secondary microcephaly, Broad-based gait, Seizure, Microcephaly, Abnormal repetiti... |
OMIM:614063 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Primary microcephaly, Overfriendliness, Dysplastic corpus callosum |
OMIM:618010 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Focal-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Generalized myoclonic sei... |
ORPHA:168491 |
Landau-Kleffner Syndrome |
|
Steppage gait, Focal impaired awareness seizure, Focal motor seizure, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 107 |
|
Progressive microcephaly, Clonic seizure, Tonic seizure, Seizure, Microcephaly, Abnormal repetiti... |
OMIM:620033 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Attention deficit hyperactivity disorder, Seizure, Small cerebral corte... |
OMIM:608716 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Simplified gyral pattern, Bilateral tonic-clonic seizure, Generalized myoclon... |
OMIM:616540 |
Lissencephaly 4 |
|
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Seizure, Wide nasal bridge, Lissenc... |
OMIM:614019 |
Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Focal-onset seizure, Inability to walk, Ataxia, Myoclonic seizure, Foc... |
OMIM:619317 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Difficulty walking, Astrocytosis, Seizure, Megalencephaly, Wide nasal bridge |
OMIM:611087 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hyposmia, Leukoencephalo... |
OMIM:613724 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Seizure, Periventricular nodular heterotopia, Attention deficit h... |
OMIM:620065 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Broad nasal tip, Focal-onset seizure, Cerebral atrophy, Secondary microcephaly,... |
OMIM:617393 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Agenesis of corpus callosum, Astrocytoma, Gray matter heterotopia |
OMIM:619101 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Primary microcephaly, Microlissencephaly, Simplified gyral pattern, Seizure, Bulbous nose, Delaye... |
OMIM:617090 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Infantile spasms, Stereotypical hand wringing, Focal-onset seizure, Gait... |
ORPHA:505652 |
Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:300497 |
Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:608631 |
Lissencephaly Due To Tuba1A Mutation |
|
Infantile spasms, Polymicrogyria, Focal-onset seizure, Hypoplasia of the corpus callosum, Partial... |
ORPHA:171680 |
Bilateral Striopallidodentate Calcinosis |
|
Seizure, Cerebral calcification, Microcephaly, Abnormality of neuronal migration |
ORPHA:1980 |
Progressive Non-Fluent Aphasia |
|
Restlessness, Astrocytosis, Temporal cortical atrophy, Lewy bodies, Neurofibrillary tangles, Fron... |
ORPHA:100070 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Infantile spasms, Polymicrogyria, Colpocephaly, Bilateral tonic-clonic seizure, Dysplastic corpus... |
ORPHA:250972 |
Pontocerebellar Hypoplasia, Type 15 |
|
Infantile spasms, Focal-onset seizure, Partial agenesis of the corpus callosum, Myoclonic seizure... |
OMIM:619302 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Focal-onset seizure, Progressive microcephaly, Cerebral atrophy, Clonic seizure, Inability to wal... |
OMIM:618917 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Stereotypical hand wringing, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure... |
ORPHA:163681 |
Pontocerebellar Hypoplasia, Type 14 |
|
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Simplified gyral pattern, Bilateral ton... |
OMIM:619301 |
Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, Gait disturbance, Focal hemiclonic seizure, EEG abnormality, Tonic seizure, Bilat... |
OMIM:618141 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Bruxism, EEG abnormality, Paroxysmal bursts of laughter, Seizur... |
OMIM:618718 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Gliosis, Abnormal rep... |
OMIM:172700 |
Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Abnormal ... |
OMIM:616341 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Shyness, Difficulty walking, Seizure, Microcephaly, Waddling gait, Bulbous nose, Abnormal repetit... |
ORPHA:280763 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Broad nasal tip, Hypsarrhythmia, Occipital cortical atrophy, Inability to walk,... |
ORPHA:411986 |
Hereditary Geniospasm |
|
EEG abnormality, Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Hypsarrhythmia, Thin corpus callosum, Inability to walk, Prominent nasal bridge, Myoclonic seizur... |
OMIM:619877 |
Kufor-Rakeb Syndrome |
|
Distal sensory impairment, Gait disturbance, Ataxia, Hyposmia, Dementia, Dysphagia, Seizure, Myoc... |
OMIM:606693 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal ... |
OMIM:619428 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Inability to walk, Unsteady gait, Simplified gyral pattern, Seizure, Thick corpus callosum, Trunc... |
OMIM:618273 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, EEG with generalized sharp slow waves, Bilateral tonic-clonic seizure, Gliosis... |
ORPHA:79243 |
Superficial Siderosis |
|
Impaired pain sensation, Paresthesia, Limb ataxia, Abnormal corpus callosum morphology, Unsteady ... |
ORPHA:247245 |
Childhood Disintegrative Disorder |
|
Impaired social interactions, Motor deterioration, Progressive language deterioration, Dementia, ... |
ORPHA:168782 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Paresthesia, Impaired proprioception, Hyposmia, Pain insensitivity, Abnormal nerve conduction vel... |
OMIM:243000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Primary microcephaly, Microlissencephaly, Cerebral calcification, Wide n... |
ORPHA:89844 |
Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Attention deficit hyperactivity disor... |
OMIM:617695 |
Lissencephaly 5 |
|
Type II lissencephaly, Porencephalic cyst, Gray matter heterotopia, Seizure, Abnormal cerebral wh... |
OMIM:615191 |
Bilateral Generalized Polymicrogyria |
|
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Diffuse white matter... |
ORPHA:208447 |
Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... |
OMIM:616212 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular white matter hyperintensities, Periventricular nodular heterotopia, Hypoesthesia,... |
OMIM:619737 |
Band Heterotopia |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Seizure, Agenesis of corpu... |
OMIM:600348 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Microcephaly, Ataxia, Dysplastic corpus callosum |
OMIM:618276 |
Pontocerebellar Hypoplasia Type 2 |
|
Impaired oropharyngeal swallow response, Abnormal cortical gyration, Bilateral tonic-clonic seizu... |
ORPHA:2524 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Seizure, Dysgyria, Abnormal cerebral white matter... |
ORPHA:352682 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Febrile seizure (within the age ... |
OMIM:614104 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Abnormal social behavior, Dysphagia, Seizure, Microcephaly, Myoclonus, ... |
ORPHA:391417 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Simplified gyral pattern, Seizure, Mic... |
OMIM:616171 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Status epilepticus, Neuronal loss in the cerebral cortex, Myoclonic seizure, Seizure, Gliosis, Pa... |
ORPHA:168486 |
Christianson Syndrome |
|
Generalized-onset seizure, Inappropriate laughter, Dysphagia, Gait ataxia, Microcephaly, Aplasia/... |
ORPHA:85278 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Focal-onset seizure, Schizencephaly, Bilateral tonic-clonic seizure, Porencephali... |
OMIM:614483 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Periventricular nodular he... |
ORPHA:352582 |
Rett Syndrome, Congenital Variant |
|
Impaired social interactions, Progressive microcephaly, Bruxism, EEG abnormality, Simplified gyra... |
OMIM:613454 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Thin corpus callosum, Cerebral atrophy, Myoclonic seizure, Wide nasal bridge, Abnormal repetitive... |
OMIM:619690 |
Periventricular Nodular Heterotopia 7 |
|
Infantile spasms, Polymicrogyria, Periventricular nodular heterotopia, Hypsarrhythmia, Ataxia, Sh... |
OMIM:617201 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Simplified gyral pattern, Dysplastic corpus callosum, Dysphagia, Seizure, Anteverted nares, Micro... |
OMIM:620001 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic spasms, Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Cognitive impairm... |
ORPHA:79264 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Astrocytosis, Cognitive impairment, Cerebral edema, Dysph... |
ORPHA:258 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Cognitive impairment, Gray matter heterotopia, Dysphagia, Seizure, Microcephaly |
OMIM:617008 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, EEG abnormality, Dysplastic corpus callosum, Seizure, Microcephaly, Lissencephaly... |
OMIM:614833 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular cysts, Seizure, Corticospinal tract hypoplasia, Pachygyria, Short corpus ... |
ORPHA:255138 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity |
DECIPHER:8 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Young-Onset Parkinson Disease |
|
Impaired social interactions, Agitation, Cognitive impairment, Hyposmia, Dementia, Frontal lobe d... |
ORPHA:2828 |
Autism, Susceptibility To, X-Linked 2 |
|
Abnormal repetitive mannerisms, Seizure, EEG abnormality |
OMIM:300495 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Thin corpus callosum, Inability to walk, Ataxia, Clonic seizure, Myoclonic seizure, Focal impaire... |
OMIM:619580 |
Autism, Susceptibility To, 3 |
|
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Status epilepticus, Bruxism, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Atoni... |
OMIM:300912 |
Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Seizure, Hyposmia, Anosmia |
OMIM:610628 |
Baker-Gordon Syndrome |
|
Inability to walk, Ataxia, EEG abnormality, Short nose, Abnormal repetitive mannerisms, Choreoath... |
OMIM:618218 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Hyperactivity, Ataxia, Abnormal social behavior, Seizure, Microcephaly, Abnormal... |
ORPHA:530983 |
Hereditary Late-Onset Parkinson Disease |
|
Agitation, Lewy bodies, Hyposmia, Dementia, Dysphagia, Mental deterioration, Gliosis, Akinesia, C... |
ORPHA:411602 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebral atrophy, Unsteady gait, Agitation, Bruxism, Focal impaired awareness seizure, Dysphagia,... |
OMIM:617435 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Distal sensory impairment, Steppage gait, Decreased motor nerve conduction velocity, Positive Rom... |
OMIM:601152 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Difficulty walking, Tip-toe gait, Gray matter heterotopia, Abnormal cerebral white matter morphol... |
ORPHA:370980 |
Developmental And Epileptic Encephalopathy 66 |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal c... |
OMIM:618067 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Status epilepticus, Focal-onset seizure, Progressive microcephaly, Cerebral atrophy, Inability to... |
OMIM:617802 |
Chromosome 3Q29 Deletion Syndrome |
|
Prominent nasal bridge, Hyperactivity, Gait ataxia, Microcephaly, Abnormal repetitive mannerisms |
OMIM:609425 |
Periventricular Nodular Heterotopia 1 |
|
Thin corpus callosum, Gray matter heterotopia, Seizure, Hypoplasia of the corpus callosum, Abnorm... |
OMIM:300049 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Semantic dementia, Ataxia, Agitation, Disinhibition, Neurofibrillary tangles, Dementia, Abnormal ... |
ORPHA:1020 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Seizure, Microcephaly, Abnormal repetit... |
OMIM:618906 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Inability to walk, Short nose, Lateral ventricle dilatation, Anteverted n... |
OMIM:613443 |
Tetrasomy 18P |
|
Gait disturbance, Short nose, Seizure, Microcephaly, Abnormality of neuronal migration |
ORPHA:3307 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Seizure, Hyposmia, Anosmia |
OMIM:244200 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Anteverted nares, Repetitive compulsive ... |
ORPHA:352490 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Ataxia, Myoclonic sei... |
OMIM:619092 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Primary microcephaly, Inability to walk, Ataxia, Secondary microcephaly, Generalized-onset seizur... |
ORPHA:357058 |
Alg11-Cdg |
|
Impaired social interactions, Cerebral atrophy, Ataxia, Gray matter heterotopia, Seizure, Abnorma... |
ORPHA:280071 |
Xq28 (MECP2) duplication |
|
Inability to walk, Dysphagia, Gait ataxia, Seizure, Microcephaly, Abnormal repetitive mannerisms,... |
DECIPHER:45 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Simplified gyral pattern, Febrile seizure (within the age range of 3 mont... |
OMIM:619179 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Seizure, Gliosis, Abnormal cerebral white matter morphology, Microcephaly, Abno... |
OMIM:300957 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Prominent nasal bridge, Attention deficit hyperactivity disorder, Seizure, Depressed nasal bridge... |
OMIM:618974 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Seizure, Microcephaly, Abnormal... |
ORPHA:228402 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Short nose, Attention deficit hyperactivity disorder, Abnormal repetitive manner... |
OMIM:613670 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Prominent nasal bridge, Underdeveloped nasal alae, Attention deficit ... |
OMIM:618825 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Infantile spasms, Thin corpus callosum, Myoclonic seizure... |
ORPHA:572013 |
Developmental And Epileptic Encephalopathy 64 |
|
Status epilepticus, Broad nasal tip, Inability to walk, Low insertion of columella, Bruxism, Chor... |
OMIM:618004 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Depressed nasal bridge, Partial agenesis of the corpus callosum, Attention deficit ... |
OMIM:619103 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nose, Short nasal septum, Microcephaly, Anosmia, Depressed nasal bridge |
OMIM:302950 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Cerebral atrophy, Ataxia, Cerebral cortical neurodegeneration, Astrocytosis, ... |
OMIM:203700 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Seizure, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:164180 |
Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Substantia nigra gliosis, Hyposmia, Dementia |
OMIM:607060 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Focal-onset seizure, Ataxia, Difficulty walking, Cognitive impairment, Inappropriate laughter, Ce... |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Abnormal repetitive mannerisms, Pica, Choreoathetosis |
OMIM:617270 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Cessation of head growth, Abnormal eating behavior, Hyperactivity, Ataxia, Secondary microcephaly... |
ORPHA:98794 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Choanal atresia, Agenesis of corpus callosum, Hyposmia |
OMIM:147950 |
Septo-Optic Dysplasia Spectrum |
|
Absent septum pellucidum, Septo-optic dysplasia, Seizure, Polydipsia, Anosmia, Agenesis of corpus... |
ORPHA:3157 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Motor tics, Noc... |
OMIM:619725 |
Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Cerebral atrophy, Falls, Astrocytosis, Neurofibrillary tangles, M... |
OMIM:601104 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Myoclonic seizure, Focal impaired awareness seizure, Attention deficit hyperactivi... |
OMIM:617600 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Thin corpus callosum, Wide nose, Gray matter heterotopia, Seizure, Anteverted nares, Microcephaly |
OMIM:619694 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Agenesis of the anterior commissure, Type II lissencephaly, Polymicrogyria, Impaired social inter... |
ORPHA:300570 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Seizure, Generalized non-motor (absence) seizure, Abnormal repetitive mannerisms |
OMIM:613886 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Anosmia, Hyposmia |
OMIM:617885 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Clonic seizure, Myoclonic seizure, EEG abnormality, Tonic seizure, Bilateral tonic... |
OMIM:617281 |
3-Hydroxyisobutyric Aciduria |
|
Congenital intracerebral calcification, Microcephaly, Abnormality of neuronal migration |
OMIM:236795 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, EEG with focal spikes, Cognitive impairment, Attention deficit hypera... |
ORPHA:98784 |
Hydrolethalus |
|
Absent septum pellucidum, Anencephaly, Arrhinencephaly, Abnormality of the sense of smell, Agenes... |
ORPHA:2189 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge, Cerebral calcification |
ORPHA:377 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Polymicrogyria, Hyperactivity, Prominent nasal bridge, Lateral ventricle dilatation, Anteverted n... |
OMIM:617751 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum, Dysdiadochokinesis |
OMIM:231950 |
Angelman Syndrome Due To A Point Mutation |
|
Cessation of head growth, Abnormal eating behavior, Secondary microcephaly, Ataxia, EEG abnormali... |
ORPHA:411511 |
Neonatal Adrenoleukodystrophy |
|
EEG abnormality, Anteverted nares, Seizure, Wide nasal bridge, Abnormality of neuronal migration |
ORPHA:44 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hypoesthesia, Impaired proprioception, Hyposmia, Pain insensitivity, Impaired vibratory sensation... |
OMIM:616488 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Polydipsia, Hyposmia, Cognitive impairment |
OMIM:615994 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebral atrophy, Prominent nasal bridge, Dysplastic corpus callosum, Anteverted nares, Seizure, ... |
OMIM:616900 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia, Bifid nose |
OMIM:614838 |
Cockayne Syndrome Type 3 |
|
Progressive microcephaly, Unsteady gait, Difficulty walking, Astrocytosis, Cognitive impairment, ... |
ORPHA:90324 |
Radio-Tartaglia Syndrome |
|
Prominent nasal bridge, Ataxia, Attention deficit hyperactivity disorder, Gray matter heterotopia... |
OMIM:619312 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Seizure, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Cerebral ... |
ORPHA:85277 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Gray matter heterotopia, Pachygyria, Microcephaly, Agenesis of c... |
ORPHA:2512 |
Potocki-Lupski Syndrome |
|
Hyperactivity, EEG abnormality, Seizure, Oral-pharyngeal dysphagia, Microcephaly, Abnormal repeti... |
OMIM:610883 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Status epilepticus, Inability to walk, Prominent nasal bridge, Ataxia, Bruxism, Tonic seizure, Ch... |
OMIM:300260 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Hypsarrhythmia, Frontal polymicrogyria, Focal-onset seizure, Bilateral tonic-clonic seizure with ... |
OMIM:620024 |
Shukla-Vernon Syndrome |
|
Wide nasal base, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerism... |
OMIM:301029 |
Fragile X Syndrome |
|
Seizure, Recurrent hand flapping, Hyperactivity, Periventricular heterotopia |
OMIM:300624 |
Developmental And Epileptic Encephalopathy 100 |
|
Broad nasal tip, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 year... |
OMIM:619777 |
Refsum Disease, Classic |
|
Anosmia, Somatic sensory dysfunction, Ataxia |
OMIM:266500 |
Galloway-Mowat Syndrome 6 |
|
Paroxysmal bursts of laughter, Anteverted nares, Seizure, Microcephaly, Abnormal repetitive manne... |
OMIM:618347 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Seizure, Abnormal repetitive mannerisms, Hypoplasia of the corpus c... |
ORPHA:228384 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Infantile spasms, Long nose, Hypsarrhythmia, Primary microcephaly, Inability to walk, EEG abnorma... |
ORPHA:457351 |
Hypomelanosis Of Ito |
|
Seizure, Cerebral atrophy, Microcephaly, Gray matter heterotopia |
OMIM:300337 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... |
ORPHA:64280 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia, Agitation, Disinhibition, Lewy bodies, Neurofibrillary tangles, Frontotemporal dement... |
OMIM:607485 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell, Microcephaly |
ORPHA:3201 |
Developmental And Epileptic Encephalopathy 2 |
|
Infantile spasms, Hypsarrhythmia, Inability to walk, Progressive microcephaly, Generalized-onset ... |
OMIM:300672 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Prominent nose, Abnormal repetitive mannerisms, Hyperactivity, Microcephaly |
OMIM:615541 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Gait disturbance, Progressive microcephaly, Diff... |
ORPHA:488627 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Gait disturbance, Difficulty walking, Astrocytosis, Abnormal globus pallidus morphology, Dysdiado... |
ORPHA:309854 |
Coffin-Siris Syndrome 6 |
|
Broad nasal tip, Tics, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive man... |
OMIM:617808 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Holoprosencephaly |
|
Depressed nasal tip, Absent nares, Aplasia/Hypoplasia involving the nose, Cognitive impairment, C... |
ORPHA:2162 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Thin corpus callosum, Difficulty walking, Generalized-onset seizure, Gait ataxia, Microcephaly, R... |
OMIM:617807 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Broad nasal tip, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor... |
OMIM:615637 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Broad nasal tip, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention ... |
OMIM:618354 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Head-banging, Hyperactivity, EEG abnormality, Seizure, Wide nasal bridge... |
OMIM:182290 |
Mucolipidosis Iv |
|
Progressive neurologic deterioration, Microcephaly, Cerebral dysmyelination, Dysplastic corpus ca... |
OMIM:252650 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Distal sensory impairment, Cerebral atrophy, Ataxia, Absent brainstem auditory responses, Decreas... |
OMIM:609136 |
Chromosome 2Q37 Deletion Syndrome |
|
Broad nasal tip, Hyperactivity, Wide nose, Pain insensitivity, Seizure, Anteverted nares, Stereot... |
OMIM:600430 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Dysplastic corpus callosum, Seizure, Microcephaly, Depressed nasal bridge, Agenesis... |
OMIM:619955 |
Joubert Syndrome |
|
Polymicrogyria, Gait disturbance, Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Apla... |
ORPHA:475 |
Edinburgh Malformation Syndrome |
|
Short nose, Choanal atresia, Anteverted nares, Seizure, Abnormality of neuronal migration |
ORPHA:1895 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Impaired social interactions, Ataxia, Attention deficit hyperactivity disorder, Memory impairment... |
OMIM:615656 |
Leber Congenital Amaurosis |
|
Seizure, Abnormality of neuronal migration |
ORPHA:65 |
Snijders Blok-Campeau Syndrome |
|
Infantile spasms, Thin corpus callosum, Unsteady gait, Myoclonic seizure, Attention deficit hyper... |
OMIM:618205 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Polymicrogyria, Prominent nasal bridge, Anteverted nares, Seizure, Microcephaly, Abnormal repetit... |
ORPHA:500159 |
Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Disinhibition, Abnormal repetitive mannerisms, Frontotemporal dementia, Dysphagia |
OMIM:612069 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Status epilepticus, Macrogyria, Short nose, Absent se... |
ORPHA:35107 |
Kallmann Syndrome |
|
Gait disturbance, Ataxia, Hyposmia, Seizure, Anosmia |
ORPHA:478 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Kohlschutter-Tonz Syndrome-Like |
|
Status epilepticus, Focal-onset seizure, Inability to walk, Agitation, EEG abnormality, EEG with ... |
OMIM:619229 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin corpus callosum, Overfriendliness, Underdeveloped nasal alae, Attention deficit hyperactivit... |
OMIM:619293 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Bilateral tonic-clonic seizure, Seizure, Gliosis, Microcephaly, Abnormal repeti... |
ORPHA:457240 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
16P13.11 Microdeletion Syndrome |
|
Generalized-onset seizure, EEG abnormality, Short nose, Anteverted nares, Compulsive behaviors, M... |
ORPHA:261236 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Seizure, Microcephaly, Wide nasal bridge, Cerebral cortical atrophy, Abnormalit... |
ORPHA:2518 |
Bilateral Perisylvian Polymicrogyria |
|
Infantile spasms, Focal-onset seizure, EEG with parietal focal spikes, Pseudobulbar paralysis, Ch... |
ORPHA:98889 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Agitation, Cognitive impairment, Seizure, Microcephaly, Abnormal repetitive mannerisms |
ORPHA:927 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia, Microcephaly |
ORPHA:2316 |
Thanatophoric Dysplasia Type 2 |
|
Seizure, Depressed nasal bridge, Cognitive impairment, Abnormality of neuronal migration |
ORPHA:93274 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Anosmia, Hyposmia, Ataxia |
OMIM:308700 |
Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Febrile seizure (within the age range of 3 months to 6 years), Attention ... |
OMIM:620073 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Microcephaly, Anosmia, Abnormal n... |
OMIM:147250 |
Galloway-Mowat Syndrome |
|
EEG abnormality, Cognitive impairment, Seizure, Pachygyria, Microcephaly, Abnormality of neuronal... |
ORPHA:2065 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Scissor gait, Microc... |
OMIM:619121 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Seizure, Pachyg... |
ORPHA:899 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Ritscher-Schinzel Syndrome 4 |
|
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Athetosis, Chorea, Dysphagia, Wide n... |
OMIM:619435 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Bruxism, Attention deficit hyperactivity disorder, Anteverted nares, Microcephaly,... |
OMIM:618342 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:2204 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Myoclonic spasms, Infantile spasms, Hair-pulling, Hypsarrhythmia, Primary microcephaly, Hyperacti... |
ORPHA:447997 |
Vici Syndrome |
|
Depressed nasal tip, EEG abnormality, Gray matter heterotopia, Seizure, Agenesis of corpus callos... |
ORPHA:1493 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Short nose, Seizure, Bulbous nose, Abnormal repetitive mannerisms, Depress... |
OMIM:618430 |
Congenital Disorder Of Deglycosylation 2 |
|
Polymicrogyria, Impaired social interactions, Thin corpus callosum, Partial agenesis of the corpu... |
OMIM:619775 |
Polyendocrine-Polyneuropathy Syndrome |
|
Abnormality of the sense of smell, Ataxia |
OMIM:616113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Gait disturbance, Secondary microcephaly, Ataxia, Underdeveloped nasal alae, Attention deficit hy... |
OMIM:300986 |
Periventricular Nodular Heterotopia 9 |
|
Polymicrogyria, Periventricular nodular heterotopia, Focal-onset seizure, Attention deficit hyper... |
OMIM:618918 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Ataxia |
OMIM:308750 |
Joubert Syndrome With Oculorenal Defect |
|
Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:2318 |
Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Restlessness, Abnormal basal ganglia morphology, Encephalomalacia, Hyposmia, Cerebral ede... |
ORPHA:68 |
Meningioma |
|
Transient global amnesia, Focal-onset seizure, Difficulty walking, Ataxia, Cognitive impairment, ... |
ORPHA:2495 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the sense of... |
ORPHA:284160 |
9Q21.13 Microdeletion Syndrome |
|
Difficulty walking, Wide nasal ridge, Gray matter heterotopia, Seizure, Aplasia/Hypoplasia of the... |
ORPHA:531151 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Secondary microcephaly, Bruxism, Bilateral tonic-clonic seizure, Anteverted nares, Abnormal repet... |
OMIM:616351 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Hyperactivity, Prominent nasal bridge, Anteverted nares, Seizure, Mic... |
OMIM:617796 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Hyperactivity, Shyness, Attention deficit hyperactivity disorder, S... |
ORPHA:449291 |
Rett Syndrome |
|
Primary microcephaly, Progressive microcephaly, Inability to walk, Agitation, Gait disturbance, D... |
ORPHA:778 |
Smith-Magenis Syndrome |
|
Impaired pain sensation, Gait disturbance, EEG abnormality, Short nose, Attention deficit hyperac... |
ORPHA:819 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Inappropriate laughter, Bilateral tonic-clonic seizure, Generalized non-motor (... |
OMIM:615802 |
Man1B1-Cdg |
|
Polyphagia, Underdeveloped nasolabial fold, Wide nose, Seizure, Wide nasal bridge, Prominent nose... |
ORPHA:397941 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Short nose, Abnormal nostril morphology |
ORPHA:1295 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Broad nasal tip, Hyperactivity, Seizure, Microcephaly, Abnormal repetitive mannerisms |
ORPHA:3306 |
Even-Plus Syndrome |
|
Bifid nasal tip, Short nose, Dysplastic corpus callosum, Depressed nasal ridge, Agenesis of corpu... |
OMIM:616854 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Secondary microcephaly, Attention deficit hyperactivity disorder, Seizure, Abnorma... |
OMIM:620242 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Gray matter heterotopi... |
ORPHA:370959 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Abnormal soc... |
ORPHA:314647 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Generalized myo... |
ORPHA:435638 |
Congenital Hypothyroidism |
|
Anosmia, Paresthesia, Depressed nasal ridge |
ORPHA:442 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Prominent nasal bridge, Attention deficit hyperactivity disorder, Anteverted nares, Repetitive co... |
ORPHA:401777 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Short nose, Attention deficit hyperactivity disorder, Pain insensitivity, Dysphagia, Seizure, Mic... |
OMIM:617061 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Seizure, Microcephaly, Bulbous n... |
OMIM:615219 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Infantile spasms, Hair-pulling, Cerebral atrophy, Ataxia, Bruxism, Microcephaly, Generalized toni... |
OMIM:616393 |
Phelan-Mcdermid Syndrome |
|
Impaired pain sensation, Concave nasal ridge, Impaired social interactions, Unsteady gait, Bruxis... |
OMIM:606232 |
4Q21 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Seizure, Depressed nasal bridge, Agenesis of corpus callosum |
ORPHA:238750 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Short nose, Seizure, Microcephaly, Bulbous nose, Abnormal repetitive mannerisms, Depressed nasal ... |
ORPHA:261144 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Impaired social interactions, Gait disturbance, Attention deficit hyperactivity disorder, Seizure... |
OMIM:300352 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal cerebral white matter morphology, Microcephaly, Prominent nose, Abnormal ... |
ORPHA:391307 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Thin corpus callosum, Short nose, Lateral ventricle dilatation, Anteverted nares, Microcephaly, B... |
OMIM:614105 |
Joubert Syndrome 30 |
|
Seizure, Gray matter heterotopia |
OMIM:617622 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Wide nose, Seizure, Microcephaly, Depressed nasal ridge... |
ORPHA:1727 |
Chromosome 5P13 Duplication Syndrome |
|
Seizure, Wide nasal bridge, Bulbous nose, Abnormal repetitive mannerisms, Agenesis of corpus call... |
OMIM:613174 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Abnormal repetitive mannerisms, Seizure, Gait disturbance |
OMIM:301094 |
Wilson Disease |
|
Hypoesthesia, Decreased nerve conduction velocity, Hyposmia, Dementia, Dysphagia, Seizure |
OMIM:277900 |
Metachromatic Leukodystrophy, Adult Form |
|
Difficulty walking, Progressive gait ataxia, Decreased nerve conduction velocity, Punctate perive... |
ORPHA:309271 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Infantile spasms, Focal impaired awareness seizure, Attention deficit hyperactivity disorder, Per... |
OMIM:618929 |
6Q Terminal Deletion Syndrome |
|
Colpocephaly, Polymicrogyria, Hypsarrhythmia, Gray matter heterotopia, Gait ataxia, Seizure, Abno... |
ORPHA:75857 |
Miller-Dieker Lissencephaly Syndrome |
|
Infantile spasms, Midline brain calcifications, Short nose, Epileptic spasm, Gray matter heteroto... |
OMIM:247200 |
8P11.2 Deletion Syndrome |
|
Seizure, Depressed nasal bridge, Microcephaly, Anosmia |
ORPHA:251066 |
Neurocutaneous Melanocytosis |
|
EEG abnormality, Seizure, Abnormality of neuronal migration |
ORPHA:2481 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Attention deficit hyperactivity disorder, Microcephaly, Abnormal repetitive manner... |
OMIM:620141 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Chiari Malformation Type Ii |
|
Dysphagia, Agenesis of corpus callosum, Ataxia, Gray matter heterotopia |
OMIM:207950 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Seizure, Cognitive impairment, Abnormality of neuronal migration |
ORPHA:2063 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Infantile spasms, Cerebral atrophy, Anteverted nares, Gray matter heterotopia, Depressed nasal br... |
OMIM:618797 |
Alazami Syndrome |
|
Abnormal eating behavior, Wide nose, Seizure, Stereotypical hand wringing, Abnormal repetitive ma... |
ORPHA:319671 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:2772 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder |
OMIM:618504 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Head-banging, Status epilepticus, Dysplastic corpus callosum, Seizure, Microcephaly, Wide nasal b... |
OMIM:618569 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Seizure, EEG with generalized slow activity, Wide nasal bridge |
ORPHA:397612 |
White-Sutton Syndrome |
|
Depressed nasal tip, Broad nasal tip, Thin corpus callosum, Cerebral atrophy, Overfriendliness, H... |
OMIM:616364 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Progressive gait ataxia, Punctate periventricular T2 hyperin... |
ORPHA:309263 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Dysplastic corpus callosu... |
ORPHA:544488 |
Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, ... |
ORPHA:314679 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Thanatophoric Dysplasia |
|
Seizure, Depressed nasal bridge, Gray matter heterotopia |
ORPHA:2655 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Progressive gait ataxia, Tip-toe gait, Punctate periventricular T2 hyperintense foci, Abnormal so... |
ORPHA:309256 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder, Ataxia |
ORPHA:10 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Long nose, Hyperactivity, Gait ataxia, Seizure, Prominent nose, Abnormal repetitive mannerisms |
OMIM:300486 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Anteverted nares, Wide nose, Thick nasal alae, Convex nasal ridge, Abnormal repeti... |
OMIM:618027 |
Coffin-Lowry Syndrome |
|
Gait disturbance, Wide nose, Anteverted nares, Seizure, Thick nasal alae, Aplasia/Hypoplasia of t... |
ORPHA:192 |
Neuromuscular Oculoauditory Syndrome |
|
Infantile spasms, Unsteady gait, Decreased amplitude of sensory action potentials, Bilateral toni... |
OMIM:618733 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Hyposmia, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the cor... |
OMIM:618653 |
Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Cerebral calcification, Se... |
OMIM:617397 |
Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Recurrent bronchitis, Chronic rhinitis, Nasal polyposis |
OMIM:244400 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Abnormal basal ganglia morphology, Cerebral calcification, Seizure, Pachygyria, A... |
ORPHA:157 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Thick nasal alae, Broad columella, Wide nasal bridge, Focal white mat... |
ORPHA:557003 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Thin corpus callosum, Ataxia, Short nose, Microcephaly, Periventricular leukomalaci... |
OMIM:619833 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder |
ORPHA:313892 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Basal ganglia cysts, Intracerebral periventricular calcifications, Seizure, Micro... |
OMIM:608836 |
Poretti-Boltshauser Syndrome |
|
Abnormal periventricular white matter morphology, Gray matter heterotopia |
OMIM:615960 |
Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Periventricular nodular heterotopia, Midline defect of the nose, Bifid nasal tip... |
OMIM:603671 |
Joubert Syndrome With Hepatic Defect |
|
Gait disturbance, Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Aplasia/Hypoplasia o... |
ORPHA:1454 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Unsteady gait, Ataxia, Short nose, Lateral ventricle dilatat... |
ORPHA:457279 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Hypoplasia of the frontal lobes, Cerebral atrophy, Prominent nasal bridge, Simpli... |
ORPHA:468631 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, EEG abnormality, Seizure, Microcephaly, Wide nasal bridge, Abnormal repetitive mannerisms |
ORPHA:2479 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Attention deficit hyperactivity disorder, Seizure, Abnormal repetit... |
ORPHA:261197 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Overfriendliness, Gait ataxia, Microcephaly, Abnormal repetitive mannerisms |
OMIM:616579 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Polymicrogyria, Pachygyria, Dysplastic corpus callosum |
ORPHA:2328 |
Alkuraya-Kucinskas Syndrome |
|
Short nose, Gray matter heterotopia, Anteverted nares, Seizure, Aplasia/Hypoplasia of the corpus ... |
OMIM:617822 |
White-Sutton Syndrome |
|
Broad nasal tip, Subcortical cerebral atrophy, Hyperactivity, EEG abnormality, Febrile seizure (w... |
ORPHA:468678 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Choreoacanthocytosis |
|
Bruxism, Loss of ambulation, Bilateral tonic-clonic seizure, Mental deterioration, Small basal ga... |
ORPHA:2388 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Seizure, Anteverted nares, Wide nasal bridge, Dysplastic corpus callosum |
OMIM:618810 |
Moebius Syndrome |
|
Dysphagia, Abnormality of the sense of smell |
ORPHA:570 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Polymicrogyria, Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge |
OMIM:614887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heter... |
OMIM:614643 |
Orofaciodigital Syndrome Type 6 |
|
Broad nasal tip, Gait disturbance, Prominent nasal bridge, Ataxia, Seizure, Aplasia/Hypoplasia of... |
ORPHA:2754 |
2Q37 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Attention deficit hyperactivity disorder, Anteverted nares, Seizure, M... |
ORPHA:1001 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia, Dysphagia, Seizure, Gliosis, Depressed nasal bridge |
ORPHA:26791 |
Bainbridge-Ropers Syndrome |
|
Broad nasal tip, Inability to walk, Prominent nasal bridge, Underdeveloped nasal alae, Short nose... |
OMIM:615485 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Stereotypical body rocking, Bilate... |
ORPHA:513456 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Broad nasal tip, Impaired social interactions, Underdeveloped nasolabial fold, Shor... |
ORPHA:177907 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Difficulty walking, Overfriendliness, Microcephaly, Wide nasal bridge, Abnormal re... |
OMIM:123450 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Intracerebral periventricular calcifications, Abnormal basal ganglia morphology, ... |
ORPHA:228308 |
Periventricular Nodular Heterotopia |
|
Focal-onset seizure, Periventricular heterotopia |
ORPHA:98892 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Prominent nasal bridge, Attention deficit hyperactivity disorder, Seizure, Simp... |
ORPHA:464311 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:617044 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Primary microcephaly, Ataxia, Secondary microcephaly, Febrile seizure (within the age range of 3 ... |
ORPHA:496641 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Primary microcephaly, Secondary microcephaly, Short nose, Attention deficit hyperactivity disorde... |
ORPHA:476126 |
Nmda Receptor Encephalitis |
|
Status epilepticus, EEG with temporal sharp slow waves, Focal-onset seizure, Agitation, Generaliz... |
ORPHA:217253 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Low insertion of columella, EEG abnormality, Short nose, Attention defic... |
OMIM:619005 |
Orofaciodigital Syndrome Xvi |
|
Depressed nasal bridge, Inability to walk, Ataxia, Gray matter heterotopia |
OMIM:617563 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Absent septum pellucidum, Attention deficit hyperactivity disorder, Anteverted nares, Convex nasa... |
OMIM:618870 |
Niemann-Pick Disease Type C |
|
Status epilepticus, Focal-onset seizure, Cerebral atrophy, Ataxia, Gait disturbance, Generalized-... |
ORPHA:646 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dementia, Neurofibrillary tangles, Dysphagia, Seizure, Abnormal repetitive mannerisms |
OMIM:607625 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with spike-wave complexes, Ataxia, EEG abnormality, Short nose, EEG with series of focal spik... |
ORPHA:522077 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Seizure, Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Holoprosencephaly 14 |
|
Partial agenesis of the corpus callosum, EEG abnormality, Absent septum pellucidum, Bilateral ton... |
OMIM:619895 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Wide nasal bridge, Depressed ... |
ORPHA:2211 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Cerebral calcif... |
ORPHA:2671 |
7Q11.23 Microduplication Syndrome |
|
Polyphagia, Broad nasal tip, Impaired social interactions, Unsteady gait, Hyperactivity, Collecti... |
ORPHA:96121 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callos... |
OMIM:614924 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Focal-onset seizure, Agitation, Bruxism, EEG abnormality, Febrile seizure (within the age range o... |
OMIM:619475 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Anteverted nares, Seizure, Microcephaly, Wide nasal bridge, Depressed na... |
OMIM:605039 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Prominent nasal bridge, Pear-shaped nose, Gray matter heterotopia, Seizure, Microc... |
OMIM:610443 |
Van Esch-O'Driscoll Syndrome |
|
Cerebral atrophy, Shyness, Short nose, Attention deficit hyperactivity disorder, Seizure, Microce... |
OMIM:301030 |
Occipital Horn Syndrome |
|
Dysphagia, Abnormality of the sense of smell, Cerebral calcification |
ORPHA:198 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Polymicrogyria, Unsteady gait, Loss of ambulation, Gray matter heterotopia, Dysphagia, Seizure, A... |
OMIM:214100 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long nose, Inability to walk, Generalized-onset seizure, Short nose, Anteverted nares, Focal myoc... |
ORPHA:508533 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anosmia, Single naris, Hyposmia, Absent nares |
ORPHA:2250 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Prominent nasal bridge, Unsteady gait, Seizure, Microcephaly, Convex nasal ridge, Stereotypical h... |
OMIM:212066 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Anteverted nares, Dysphagia, Seizure, Hypoplasia of the corpus callosum, Periventri... |
ORPHA:261250 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Impaired pain sensation, Bruxism, Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Mi... |
ORPHA:453499 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Thin corpus callosum, Hyperactivity, Partial agenesis of the corpus callosum, Myoclonic seizure, ... |
OMIM:619512 |
Pitt-Hopkins Syndrome |
|
Secondary microcephaly, Flared nostrils, Gait ataxia, Seizure, Microcephaly, Wide nasal bridge, A... |
OMIM:610954 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Seizure |
ORPHA:529965 |
Wiedemann-Steiner Syndrome |
|
Abnormal corpus callosum morphology, Hyperactivity, Short nose, Dysphagia, Seizure, Microcephaly,... |
ORPHA:319182 |
Thanatophoric Dysplasia Type 1 |
|
Seizure, Depressed nasal bridge, Gray matter heterotopia |
ORPHA:1860 |
Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Simplified gyral pattern, Gray matter heterotopia, Pachygyri... |
OMIM:601390 |
Mismatch Repair Cancer Syndrome 1 |
|
Astrocytoma, Gray matter heterotopia, Pleomorphic xanthoastrocytoma, Ependymoma, Oligodendrogliom... |
OMIM:276300 |
3C Syndrome |
|
Short nose, Wide nasal bridge, Depressed nasal bridge, Abnormality of neuronal migration |
ORPHA:7 |
Nijmegen Breakage Syndrome |
|
Prominent nasal bridge, Glioma, Attention deficit hyperactivity disorder, Mental deterioration, M... |
ORPHA:647 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, ... |
OMIM:618914 |
Helsmoortel-Van Der Aa Syndrome |
|
Polyphagia, Broad nasal tip, Impaired social interactions, Hyperactivity, Bruxism, Short nose, To... |
OMIM:615873 |
Charge Syndrome |
|
Choanal atresia, Attention deficit hyperactivity disorder, Microcephaly, Anosmia, Depressed nasal... |
ORPHA:138 |
Aicardi Syndrome |
|
Infantile spasms, Polymicrogyria, Partial agenesis of the corpus callosum, Epileptic spasm, Later... |
OMIM:304050 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Polymicrogyria, Secondary microcephaly, Short nose, Absent septum pellucidum, Atten... |
OMIM:618820 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms, Seizure |
OMIM:617682 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad nasal tip, Prominent nasal bridge, Ataxia, Broad-based gait, Pain insensitivity, Dysphagia,... |
OMIM:617330 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Seizure, Microcephaly, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:610253 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Bilateral tonic-c... |
OMIM:614756 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Impaired pain sensation, Broad nasal tip, Inability to walk, Bruxism, Underdeveloped nasal alae, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Impaired pain sensation, Broad nasal tip, Inability to walk, Bruxism, Underdeveloped nasal alae, ... |
ORPHA:352665 |
Tuberous Sclerosis Complex |
|
Infantile spasms, Status epilepticus, Focal-onset seizure, Hyperactivity, Subependymal giant-cell... |
ORPHA:805 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Choanal atresia, Attention deficit hyperactivity disorde... |
OMIM:305450 |
Monosomy 22Q13.3 |
|
Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism, Seizure, Wide nasal bridge, Bulbou... |
ORPHA:48652 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Infantile spasms, Hypsarrhythmia, Focal-onset seizure, EEG abnormality, Short nose, Multifocal se... |
OMIM:301044 |
Kleefstra Syndrome |
|
Short nose, Anteverted nares, Seizure, Microcephaly, Abnormal repetitive mannerisms, Agenesis of ... |
ORPHA:261494 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Underdeveloped nasal alae, Anteverted nares, Depressed nasal bridge, Gray matter heterotopia |
OMIM:608624 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Microcephaly, Wide nasal bridge, Abnormal repetitive mannerisms, Depressed nasal b... |
OMIM:619695 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Seizure, Ab... |
OMIM:619575 |
Vici Syndrome |
|
Schizencephaly, Gray matter heterotopia, Dysphagia, Seizure, Wide nose, Microcephaly, Depressed n... |
OMIM:242840 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Polymicrogyria, Status epilepticus, Colpocephaly, Hypoplasia of the f... |
OMIM:210710 |
Lacrimoauriculodentodigital Syndrome |
|
Dysphagia, Seizure, Choanal atresia, Anosmia |
ORPHA:2363 |
Van Maldergem Syndrome 2 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Wide nasal bridge, Depressed nasal ... |
OMIM:615546 |
Leopard Syndrome 1 |
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Hyposmia, Depressed nasal ridge |
OMIM:151100 |
Ventriculomegaly With Cystic Kidney Disease |
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Seizure, Gray matter heterotopia |
OMIM:219730 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Primary microcephaly, Gait disturbance, Hyperactivity, Prominent nasal bridge, Febrile seizure (w... |
ORPHA:464306 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Long nose, Low hanging columella, Dysplastic corpus callosum |
ORPHA:363444 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Cerebral atrophy, Short nose, Bilateral tonic-clonic seizure, Anteverted nares, Seizure, Microcep... |
OMIM:301040 |
Kinsship Syndrome |
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Focal-onset seizure, Primary microcephaly, Bruxism, Bilateral tonic-clonic seizure, Generalized n... |
OMIM:619297 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Prominent nasal bridge, Ataxia, Shyness, Pseudobulbar paralysis, Dysplastic corpus callosum, Seiz... |
ORPHA:466791 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Anosmia |
OMIM:619718 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Cerebral atrophy, Underdeveloped nasal alae, Porencephalic cyst, Gray... |
OMIM:311200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ataxia, Dysplastic corpus callosum, Seizure, Thick corpus callosum, Narrow nasal bridge, Prominen... |
OMIM:300967 |
Mucopolysaccharidosis Type 2 |
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Hyperactivity, Cognitive impairment, Progressive neurologic deterioration, Decreased nerve conduc... |
ORPHA:580 |
Bosma Arhinia Microphthalmia Syndrome |
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Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
Cystinosis |
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Abnormal repetitive mannerisms, Polydipsia, Gait disturbance |
ORPHA:213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Type II lissencephaly, Absent septum pellucidum, Gray matter heterotopia, Anencephaly, Seizure, A... |
OMIM:615287 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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EEG with parietal focal spikes, Multifocal seizures, EEG with occipital focal spikes, EEG with ce... |
OMIM:301066 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Polymicrogyria, Generalized-onset seizure, Simplified gyral pattern, Ischemic stroke, Short nose,... |
ORPHA:500150 |
Zttk Syndrome |
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Status epilepticus, Short nose, Dysplastic corpus callosum, Seizure, Abnormal cerebral white matt... |
OMIM:617140 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Impaired social interactions, Hyperactivity, Secondary microcephaly, EEG abnormality, Low hanging... |
ORPHA:353281 |
Thanatophoric Dysplasia, Type I |
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