Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Cognitive impairment, Dementia |
OMIM:618564 |
Alzheimer Disease 10 |
|
Memory impairment, Dementia |
OMIM:609636 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... |
ORPHA:280397 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restlessness, Frontotemporal dementia, Echolalia, Frontotemporal cerebral atrophy, Disinhibition,... |
ORPHA:275864 |
Spinocerebellar Degeneration With Slow Eye Movements |
|
Gait disturbance, Cognitive impairment |
OMIM:271322 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, EEG with focal slow activity, Abnormality of neuronal migration, Seizure... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Seizure, Thin corpus callosum, Agyria, Lissencephaly, Subcortical band h... |
OMIM:615411 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Myoclonic seizure, Generalized-onset seizure, Delayed speech and language development, Hypsarrhyt... |
OMIM:618677 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Memory impairment, Difficulty walking, Dementia |
ORPHA:85292 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Generalized-onset seizure, Hyperactivity, Abnormality of neuronal migrat... |
OMIM:604317 |
Microlissencephaly |
|
Subcortical heterotopia, Cerebral cortical atrophy, Periventricular heterotopia, Simplified gyral... |
ORPHA:1083 |
Focal Cortical Dysplasia, Type Ii |
|
Hemimegalencephaly, Focal cortical dysplasia type II, Cognitive impairment, Focal impaired awaren... |
OMIM:607341 |
Lissencephaly 3 |
|
Gray matter heterotopia, Generalized tonic seizure, Seizure, Agyria, Lissencephaly, Ataxia, Bilat... |
OMIM:611603 |
Huntington Disease |
|
Inability to walk, Choking episodes, Difficulty walking, Speech articulation difficulties, Alcoho... |
ORPHA:399 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Seizure, Hypsarrhythmia, Agyria, EEG with changes in voltage, Pachygyria... |
ORPHA:1084 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Seizure, Hypsarrhythmia, Periventricular nodular heterotopia, Progre... |
OMIM:608097 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Abnormality of neuronal migration, Ataxia, Abnormal corpus callosum morphology, Attentio... |
OMIM:618709 |
Periventricular Nodular Heterotopia 6 |
|
Seizure, Focal motor seizure, Hypsarrhythmia, Delayed speech and language development, Periventri... |
OMIM:615544 |
Hemimegalencephaly |
|
Hemimegalencephaly, Gray matter heterotopia, Seizure, Hyperintensity of cerebral white matter on ... |
ORPHA:99802 |
Sporadic Creutzfeldt-Jakob Disease |
|
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Hypsarrhythmia, Myoclonus, ... |
ORPHA:204 |
Lissencephaly 1 |
|
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Abnormal cerebral white matter morpholog... |
OMIM:607432 |
Symmetrical Thalamic Calcifications |
|
Cognitive impairment, Abnormality of neuronal migration, EEG abnormality, Seizure, Cerebral calci... |
ORPHA:1314 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Seizure, Inability to walk, Periventricular nodular heterotopia, Absent speech, Microcephaly |
OMIM:618572 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpus c... |
OMIM:300067 |
Nodular Neuronal Heterotopia |
|
Seizure, Abnormality of neuronal migration, EEG abnormality |
ORPHA:2149 |
Periventricular Nodular Heterotopia 8 |
|
Delayed speech and language development, Reduced cerebral white matter volume, Seizure, Periventr... |
OMIM:618185 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Basal ganglia gliosis, Delayed speech and language development, Myoclonus, Atrophy/D... |
ORPHA:225154 |
Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Cognitive impairment, Lateral ventricle dila... |
ORPHA:300573 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Seizure, Simplified gyral pattern, Delayed speech and language development, Thin corpus callosum,... |
OMIM:614039 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Seizure, Delayed speech and language development, Microcephaly, Bruxism |
OMIM:615493 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Seizure, Partial agenesis of the corpus callosum, Hypoplasia of the corp... |
OMIM:604213 |
Foxg1 Syndrome |
|
Cognitive impairment, Inability to walk, Impaired social interactions, Stereotypical hand wringin... |
ORPHA:561854 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Frontotemporal dementia, Cerebral cortical atrophy, Myoclonus, Disinhibition, Gait ... |
OMIM:600795 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Prominent nose, Seizure, Inability to walk, Simplified gyral pattern, Delayed speech and language... |
OMIM:618492 |
Isolated Focal Cortical Dysplasia |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Cognitive impairment,... |
ORPHA:65683 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... |
ORPHA:168491 |
Familial Focal Epilepsy With Variable Foci |
|
Hemimegalencephaly, Cognitive impairment, Paresthesia, Focal-onset seizure, Hypsarrhythmia, Inter... |
ORPHA:98820 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Delayed speech and language development, Hyperactivity, Seizure, Bruxism |
ORPHA:356996 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Seizure, Lissencephaly, Partial agenesis of the corpus callosum, Infan... |
OMIM:610031 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Seizure, Simplified gyral pattern, Delayed speech and language development... |
OMIM:608716 |
Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... |
ORPHA:98818 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Anxiety, Mental ... |
OMIM:619191 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Seizure, Compulsive behaviors, Abnormal cerebral white matter morphology, Mild malformation of co... |
ORPHA:500166 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Seizure, EEG abnormality, Falls, Focal-onset seizure, Delayed speech and language develop... |
OMIM:619150 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Chorea, Seizure, EEG abnormality, Stereotypical hand wringing, Inability to wa... |
OMIM:614254 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Seizure, Progressive cerebellar ataxia, EEG with persistent abnormal rhythmi... |
ORPHA:282166 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Seizure, Wide nasal bridge, Inability to walk, Absent speech, Megalencephaly, Difficulty walking,... |
OMIM:611087 |
Maternal Hyperthermia-Induced Birth Defects |
|
Cognitive impairment, Seizure, Abnormality of neuronal migration, EEG abnormality, Microcephaly |
ORPHA:2216 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... |
OMIM:301008 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Polymicrogyria, Absent speech, Bilateral tonic-clonic seizure, Infantile spasms, Dysplas... |
ORPHA:250972 |
Progressive Non-Fluent Aphasia |
|
Restlessness, Lewy bodies, Frontotemporal dementia, Memory impairment, Frontotemporal cerebral at... |
ORPHA:100070 |
Developmental And Epileptic Encephalopathy 97 |
|
Seizure, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia, Delayed speech and langu... |
OMIM:619561 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Abnormality of neuronal migration... |
ORPHA:163681 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Cerebral cortical atrophy, Recurrent hand flapping, Absent speech, Progressive micro... |
OMIM:617862 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Cognitive impairment, Delayed speech and language development, Pseudobulbar paralysis, Bilateral ... |
OMIM:300388 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Limb myoclonus, Abnormality of neuronal migration, Seizure, Focal-onset ... |
ORPHA:101030 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifo... |
ORPHA:411986 |
Leber Congenital Amaurosis 10 |
|
Seizure, Hyposmia |
OMIM:611755 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathe... |
OMIM:618497 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Seizure, Periventricular heterotopia, Inability to walk, Simplified gyral pattern, Thick corpus c... |
OMIM:618273 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Seizure, Delayed speech and language development, Thin corpus callosum, Narrow nasal bridge, Impu... |
OMIM:618286 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Seizure, Overfriendliness, Primary microcephaly |
OMIM:618010 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... |
OMIM:616540 |
Lissencephaly 4 |
|
Seizure, Wide nasal bridge, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenes... |
OMIM:614019 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Hypsarrhythmia, Abs... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Generalized myoclonic seizure, Gait dis... |
OMIM:618141 |
Cdkl5-Deficiency Disorder |
|
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Multifocal epileptif... |
ORPHA:505652 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Seizure, Primary microcephaly, Simplified gyral pattern, Delayed speech and language development,... |
OMIM:617090 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, EEG abnormality, Stereotypical hand wringing, Focal-onset seizure, Inability to walk, Con... |
OMIM:618760 |
Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme |
OMIM:619101 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Agitation, Impul... |
OMIM:309548 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Seizure, Abnormality of neuronal migration, Microcephaly |
ORPHA:1980 |
Cln5 Disease |
|
Cerebral cortical atrophy, Inability to walk, Focal-onset seizure, Truncal ataxia, Unsteady gait,... |
ORPHA:228360 |
Lissencephaly Due To Tuba1A Mutation |
|
Perisylvian polymicrogyria, Focal-onset seizure, Agyria, Dysgenesis of the basal ganglia, Lissenc... |
ORPHA:171680 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Ataxia, Absent speech, Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Seizure, Shyness, Ab... |
ORPHA:280763 |
Fraxe Intellectual Disability |
|
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Agitation, Compu... |
ORPHA:100973 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Delayed speech and language development, Attention deficit hyperactivity disorder, Seizure, Periv... |
OMIM:620065 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Seizure, Impaired social interactions, Motor deterioration... |
ORPHA:168782 |
Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Simplified gyral pattern, Focal-onset seizure, Absent speech, Bilateral tonic-... |
OMIM:619301 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Seizure, Absent speech, Depressed nasal bridge, Microcephaly, Bruxism |
OMIM:300434 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Primary microcephaly, Delayed speech and language development, Thin corpus ... |
OMIM:615771 |
Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Simplified gyral pattern, Focal-onset seizure, Bilateral tonic-clonic seizure,... |
OMIM:619302 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Periventricular heterotopia, Seizure, Simplified gyral pattern, Absent speech, Pa... |
OMIM:616171 |
Familial Infantile Myoclonic Epilepsy |
|
Limb myoclonus, Seizure, Focal-onset seizure, Delayed speech and language development, Interictal... |
ORPHA:352582 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment, Seizure, Delayed speech and language development, ... |
OMIM:617008 |
Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
Kufor-Rakeb Syndrome |
|
Seizure, Hyposmia, Akinesia, Myoclonus, Gait disturbance, Dementia, Ataxia, Anosmia, Dysphagia, D... |
OMIM:606693 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Seizure, EEG abnormality, Delayed speech and language development, Lissencephaly, Microcephaly, D... |
OMIM:614833 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lateral ventricle dilatation, Inability to walk, Cerebellar gliosis, Polymicrogyria, EEG with foc... |
ORPHA:79243 |
Superficial Siderosis |
|
Cognitive impairment, Seizure, Dysdiadochokinesis, Paresthesia, Progressive gait ataxia, Limb ata... |
ORPHA:247245 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Chorea, Inability to ... |
OMIM:618917 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Seizure, Delayed speech and language development, Hypsarrhythmia, Perive... |
OMIM:617201 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Seizure, Simplified gyral pattern, Interictal epileptiform activity, Absent speech, Depressed nas... |
OMIM:620001 |
Pitt-Hopkins-Like Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, EEG ab... |
OMIM:610042 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Paresthesia, Hyposmia, Impaired tactile sensation, Impaired p... |
OMIM:243000 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Abnormality of neuronal migration, Wide nasal bridge, Primary microcephaly, 4-layered ... |
ORPHA:89844 |
Lissencephaly 5 |
|
Leukoencephalopathy, Gray matter heterotopia, Seizure, Porencephalic cyst, Abnormal cerebral whit... |
OMIM:615191 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Microlissencephaly... |
OMIM:616212 |
Band Heterotopia |
|
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Subcortical band heterotopia, Age... |
OMIM:600348 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Generalized-onset seizure, Seizure, Periventricular nodular heterotopia, Hypoesthesia, Secondary ... |
OMIM:619737 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Recurrent han... |
OMIM:613192 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Prominent nas... |
ORPHA:352490 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Seizure, Abnormal cerebral white matter morphology, Type II lissencephal... |
ORPHA:352682 |
Pontocerebellar Hypoplasia Type 2 |
|
Seizure, Abnormal cortical gyration, Impaired oropharyngeal swallow response, Generalized myoclon... |
ORPHA:2524 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Seizure, Wide nasal bridge, EEG with burst suppression, Cerebral hypoplasia, N... |
ORPHA:168486 |
Christianson Syndrome |
|
Gait ataxia, Generalized-onset seizure, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corp... |
ORPHA:85278 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Seizure, Motor deterioration, Myoclonic spasms, Interictal EEG abnormality,... |
ORPHA:79264 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Impaired social interactions, Delayed speech and language development,... |
ORPHA:544254 |
Atypical Rett Syndrome |
|
Gait ataxia, Limb myoclonus, Seizure, EEG abnormality, Stereotypical hand wringing, Impaired soci... |
ORPHA:3095 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Seizure, Abnormal repetitive mannerisms, Absent speech, Short nose, Hy... |
ORPHA:85277 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Spastic gait |
OMIM:613162 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Focal-onset seizure, Porencephalic cyst, Bilateral tonic-clonic seizure,... |
OMIM:614483 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Seizure, EEG abnormality, Inability to walk, Delayed speech and language developme... |
OMIM:618718 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Wide nasal bridge, Stereo... |
OMIM:619179 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia, Seizure, Delayed speech and language development, Depressed nasal br... |
OMIM:618974 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Wide nasal bridge, Inability to walk, T... |
OMIM:615716 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Seizure, Delayed speech and language development, Abnormal social behavior, Abnorm... |
ORPHA:530983 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Seizure, Delayed speech and language development, Recurrent hand flapp... |
OMIM:618859 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Seizure, Delayed speech and language development, Gait disturb... |
OMIM:300957 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Short nose, Ant... |
ORPHA:228384 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Seizure, Periventricular leukomalacia, Cortic... |
ORPHA:255138 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cerebral edema, Cognitive impairment, Seizure, Inability to walk, Focal-onset seizure, Lissenceph... |
ORPHA:258 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral cortical atrophy, EEG abnormality, Primary microcephaly, Inability to walk, Severe recep... |
ORPHA:457351 |
Pontocerebellar Hypoplasia, Type 11 |
|
Seizure, Inability to walk, Delayed speech and language development, Limb ataxia, Ataxia, Attenti... |
OMIM:617695 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Gray matter heterotopia, Seizure, Delayed speech and language development, Thin corpus... |
OMIM:619694 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Seizure, Hyposmia |
OMIM:610628 |
Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Wide nose, Pronoun reversal, Pica, Echolalia, Wide nasal bridge, Seizure, Delayed speech and lang... |
OMIM:615032 |
Young-Onset Parkinson Disease |
|
Cognitive impairment, Gait imbalance, Hyposmia, Impaired social interactions, Frontal lobe dement... |
ORPHA:2828 |
Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Hyposmia, Akinesia, Dementia, Agitation, ... |
ORPHA:411602 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Seizure, Delayed speech and language development, Choreoathetosis, Absent speech, Ataxia, Posteri... |
OMIM:619422 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Myoclonic seizure, Thin corpus callosum, Abnormal repetitive mannerisms, Pachygyria, Dysphagia, I... |
ORPHA:572013 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Positive Romberg sign, Anosmia, Steppage gait, Distal ... |
OMIM:601152 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Abnormal cerebral white matter morphology, Microcephaly, P... |
ORPHA:370980 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Seizure, Abnormality of neuronal migration, Thin corpus callosum, Hypopl... |
OMIM:300049 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Seizure, Hyposmia |
OMIM:244200 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Seizure, Delayed speech and language developmen... |
OMIM:616900 |
Lopes-Maciel-Rodan Syndrome |
|
Seizure, Absent speech, Agitation, Focal impaired awareness seizure, Caudate atrophy, Cerebral at... |
OMIM:617435 |
Tetrasomy 18P |
|
Seizure, Abnormality of neuronal migration, Gait disturbance, Short nose, Microcephaly |
ORPHA:3307 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia |
OMIM:614879 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Seizure, Lateral ventricle dilatation, Impaired social interactions, Simplified g... |
ORPHA:300570 |
Rett Syndrome, Congenital Variant |
|
Chorea, Seizure, EEG abnormality, Impaired social interactions, Simplified gyral pattern, Absent ... |
OMIM:613454 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Generalized-onset seizure, Seizure, Inability to walk, Primary microcephaly, Prominent nasolabial... |
ORPHA:357058 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Echolalia,... |
OMIM:615516 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Seizure, Delayed speech and language development, Ataxia, Abnormal repetitive mann... |
ORPHA:228402 |
Developmental And Epileptic Encephalopathy 110 |
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Chorea, Generalized non-motor (absence) seizure, Absent speech, Focal impaired awareness hemiclon... |
OMIM:620149 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Cognitive impairment, Increased theta frequency activity in EEG, EEG with focal spikes, Focal hyp... |
ORPHA:98784 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Leukoencephalopathy, Myoclonic seizure, Gray matter heterotopia, Cerebral cortical atrophy, Bilat... |
OMIM:620024 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Seizure, Delayed speech and language development, Gait disturbance, Abnormal repetitive mannerism... |
ORPHA:457240 |
Alg11-Cdg |
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Gray matter heterotopia, Seizure, Impaired social interactions, EEG with burst suppression, Ataxi... |
ORPHA:280071 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Short nose, Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum |
OMIM:302950 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Absent speech, Progressive neurologic deterioration, Microcephaly, Dyspl... |
OMIM:252650 |
Developmental And Epileptic Encephalopathy 87 |
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Prominent nose, Seizure, Hypsarrhythmia, Recurrent hand flapping, Cerebral atrophy, Infantile spa... |
OMIM:618916 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Hyperactivity, Gait imbalance, Seizure, EEG abnormality, Recurrent hand flapping, Myoclonus, Cess... |
ORPHA:98794 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Abnormal periventricular white matter morphology, Seizure, Absent speech, Abnormal repetitive man... |
ORPHA:500159 |
Intellectual Developmental Disorder, X-Linked 98 |
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Atonic seizure, Bulimia, Short nose, Secondary microcephaly, Bilateral tonic-clonic seizure, Infa... |
OMIM:300912 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Epilepsia partialis continua, Myoclonus, Generalized non-convulsive status epilepticus without co... |
OMIM:203700 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Agenesis of corpus callosum, Anosmia, Hyposmia, Choanal atresia |
OMIM:147950 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Seizure, EEG abnormality, Delayed speech and language development, Prominent nasolabial fold, Rep... |
ORPHA:391372 |
Parkinson Disease 8, Autosomal Dominant |
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Hyposmia, Lewy bodies, Substantia nigra gliosis, Dementia |
OMIM:607060 |
Oculocerebrocutaneous Syndrome |
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Gray matter heterotopia, Seizure, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:164180 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
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Recurrent hand flapping, Attention deficit hyperactivity disorder, Seizure, Echolalia |
OMIM:620021 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Cognitive impairment, Seizure, Echolalia, Abnormal repetitive mannerisms, Ataxia, Agitation, Micr... |
ORPHA:927 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Bilateral tonic-clonic seizure with focal onset, Cerebral cortical atrophy, Gait imbalance, Seizu... |
ORPHA:488627 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Myoclonic seizure, Gait ataxia, Echolalia, Inability to walk, Delayed speech and language develop... |
OMIM:619580 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Leukoencephalopathy, Hyposmia |
OMIM:613724 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Myoclonic seizure, Chorea, Hyperactivity, Delayed speech and language development, Recurrent hand... |
OMIM:617600 |
Supranuclear Palsy, Progressive, 1 |
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Granulovacuolar degeneration, Neuronal loss in basal ganglia, Frontolimbic dementia, Falls, Akine... |
OMIM:601104 |
Septo-Optic Dysplasia Spectrum |
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Seizure, Septo-optic dysplasia, Polydipsia, Anosmia, Absent septum pellucidum, Agenesis of corpus... |
ORPHA:3157 |
Body Mass Index Quantitative Trait Locus 19 |
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Anosmia, Hyposmia, Polyphagia |
OMIM:617885 |
Inverted Duplicated Chromosome 15 Syndrome |
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Hyperactivity, Echolalia, Seizure, Severe receptive language delay, Abnormal repetitive mannerism... |
ORPHA:3306 |
3-Hydroxyisobutyric Aciduria |
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Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly |
OMIM:236795 |
Glutathionuria |
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Dysdiadochokinesis, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Hydrolethalus |
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Arrhinencephaly, Anencephaly, Absent septum pellucidum, Abnormality of the sense of smell, Agenes... |
ORPHA:2189 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Cerebral calcification, Wide nasal bridge |
ORPHA:377 |
Optic Atrophy 11 |
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Leukoencephalopathy, Hyperactivity, Gait apraxia, Seizure, EEG with focal sharp waves, Absent spe... |
OMIM:617302 |
Neonatal Adrenoleukodystrophy |
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Seizure, Abnormality of neuronal migration, Wide nasal bridge, EEG abnormality, Anteverted nares |
ORPHA:44 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Focal polymicrogyria, Head-banging, Seizure, Depressed nasal bridge, Partial agenesis of the corp... |
OMIM:619103 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Gait imbalance, Seizure, Wide nasal bridge, Delayed speech and language ... |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
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Febrile seizure (within the age range of 3 months to 6 years), Wide nasal bridge, Delayed speech ... |
OMIM:617788 |
Microphthalmia-Brain Atrophy Syndrome |
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Generalized-onset seizure, Lateral ventricle dilatation, Generalized myoclonic seizure, Focal hyp... |
ORPHA:77299 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Hypoesthesia, Impaired proprioception, Pain insensitivity, Impaired temperature sensati... |
OMIM:616488 |
Bardet-Biedl Syndrome 17 |
|
Anosmia, Polydipsia, Cognitive impairment, Hyposmia |
OMIM:615994 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Lewy bodies, Frontotemporal dementia, Cerebral cortical atrophy, Lateral ventricle dilatation, Re... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Chorea, Seizure, Wide nasal bridge, Generalized non-motor (absence) seizure, Inability to walk, R... |
OMIM:300260 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Bifid nose, Hyposmia |
OMIM:614838 |
Rett Syndrome |
|
Seizure, EEG abnormality, Stereotypical hand wringing, Primary microcephaly, Inability to walk, G... |
ORPHA:778 |
Bilateral Perisylvian Polymicrogyria |
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EEG with central focal spikes, Focal sensory seizure, Abnormality of neuronal migration, Perisylv... |
ORPHA:98889 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Wide nasal bridge, Primary microcephaly, Myoclonic spasms, Hypsarrhy... |
ORPHA:447997 |
Cockayne Syndrome Type 3 |
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Abnormality of peripheral nerve conduction, Cognitive impairment, Seizure, Subcortical white matt... |
ORPHA:90324 |
Autosomal Recessive Primary Microcephaly |
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Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcephaly, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Fragile X Syndrome |
|
Recurrent hand flapping, Seizure, Periventricular heterotopia, Hyperactivity |
OMIM:300624 |
Childhood Absence Epilepsy |
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Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
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Pica, Seizure, EEG abnormality, Delayed speech and language development, Recurrent hand flapping,... |
OMIM:618480 |
16P13.11 Microdeletion Syndrome |
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Generalized-onset seizure, Abnormality of neuronal migration, EEG abnormality, Delayed speech and... |
ORPHA:261236 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Anosmia, Ataxia |
OMIM:266500 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Hyperactivity, Prominent nose, Delayed speech and language development, Abnormal repetitive manne... |
ORPHA:391307 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Seizure, Delayed speech and l... |
ORPHA:531151 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Seizure, Absent speech, Short nose, Abnormal repetitive mannerisms, Depressed nasal bridge, Micro... |
ORPHA:261144 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Gait imbalance, Seizure, EEG abnormality, Cessation of head growth, Secondary microcephaly, Bilat... |
ORPHA:98795 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Pica, Cerebral cortical atrophy, Hyperactivity, Tics, Absent speech, Short nose, Broad columella,... |
OMIM:617865 |
3P25.3 Microdeletion Syndrome |
|
Prominent nose, Delayed speech and language development, Generalized myoclonic seizure, Absent sp... |
ORPHA:435638 |
4Q21 Microdeletion Syndrome |
|
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Depressed nasal... |
ORPHA:238750 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Seizure, Microcephaly, Cerebral atrophy |
OMIM:300337 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Seizure, Spastic gait, Shuffling gait, Delayed speech and language development, Choreoathetosis, ... |
OMIM:300055 |
Smith-Magenis Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Seizure, Wide nasal bridge, EEG abnormality, Delayed s... |
ORPHA:819 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Short nasal bridge, Seizure, Repetitive compulsive behavior, Absent speech, Compulsive behaviors,... |
ORPHA:401777 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Abnormality of the sense of smell, Microcephaly |
ORPHA:3201 |
Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Wide nasal bridge, Delayed speech and language development, Abnormal repetitive manneris... |
ORPHA:397612 |
Joubert Syndrome 30 |
|
Delayed speech and language development, Gray matter heterotopia, Seizure |
OMIM:617622 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Abnormal globus pallidus morphology, Abnorm... |
ORPHA:309854 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Seizure, EEG abnormality, Stereotypical han... |
OMIM:312750 |
Holoprosencephaly |
|
Absent nares, Chorea, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:2162 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Seizure, Delayed speech and language development, Abnormal repe... |
ORPHA:1727 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cognitive impairment, Periventricular heterotopia, Hyperintensity of cerebral white matter on MRI... |
OMIM:618476 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Seizure, Shyness, Impaired social interactions, Delayed speech and language develo... |
ORPHA:449291 |
Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Seizure, Gait distu... |
ORPHA:475 |
Angelman Syndrome |
|
Cerebral cortical atrophy, EEG abnormality, Inability to walk, Atonic seizure, Dysphagia, Cerebra... |
ORPHA:72 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Seizure, EEG abnormality, Recurrent hand flapping, Cessation of head growth, Atax... |
ORPHA:411511 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Seizure, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus cal... |
OMIM:619955 |
Edinburgh Malformation Syndrome |
|
Seizure, Abnormality of neuronal migration, Short nose, Anteverted nares, Choanal atresia |
ORPHA:1895 |
Leber Congenital Amaurosis |
|
Seizure, Abnormality of neuronal migration |
ORPHA:65 |
Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Seizure, Macrogyria, Agenesis of c... |
ORPHA:35107 |
Kallmann Syndrome |
|
Seizure, Hyposmia, Gait disturbance, Ataxia, Anosmia |
ORPHA:478 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Seizure, Absent brainstem auditory responses, Myoclonus, Cerebral dysmyelination, Ataxia, Decreas... |
OMIM:609136 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormal periventricular white matter morphology, Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Delayed speech and language development, Attention deficit hyperactivity disorder, Seizure, Abnor... |
ORPHA:313892 |
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 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Cerebral cortical atrophy, Abnormality of neuronal migration, Wide nasal bridge, Seizure, Microce... |
ORPHA:2518 |
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 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Microcephaly, Choanal atresia |
ORPHA:2316 |
Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Cognitive impairment, Abnormality of neuronal migration, Seizure |
ORPHA:93274 |
Poretti-Boltshauser Syndrome |
|
Delayed speech and language development, Gray matter heterotopia, Abnormal periventricular white ... |
OMIM:615960 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Ataxia, Anosmia, Hyposmia |
OMIM:308700 |
Bainbridge-Ropers Syndrome |
|
Underdeveloped nasal alae, Seizure, Inability to walk, Recurrent hand flapping, Bulbous nose, Abs... |
ORPHA:352577 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Focal-onset seizure, Delayed speech and language development, Interictal... |
OMIM:618918 |
Solitary Median Maxillary Central Incisor |
|
Choanal atresia, Midnasal stenosis, Anosmia, Microcephaly, Pyriform aperture stenosis, Abnormal n... |
OMIM:147250 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Head-banging, Seizure, Wide nasal bridge, Delayed speech and language development, Status epilept... |
OMIM:618569 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Delayed speech and... |
OMIM:612337 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Seizure, Macrogyria, Lissencephaly... |
ORPHA:899 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Seizure, Lateral ventricle dilatation, Delayed speech and language development, Absent speech, Sh... |
ORPHA:457279 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Bulbous nose, Colpocep... |
OMIM:615219 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Generalized tonic seizure, Absent speech, Ataxia, Depressed nasal bridge, Microceph... |
OMIM:616393 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Absent speech, Depressed nasal bridge, Anteverted nares, Cerebral atroph... |
OMIM:618797 |
Galloway-Mowat Syndrome |
|
Cognitive impairment, Abnormality of neuronal migration, EEG abnormality, Seizure, Microcephaly, ... |
ORPHA:2065 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebral cortical atrophy, Seizure, EEG abnormality, Depressed nasal tip... |
ORPHA:1493 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
6Q Terminal Deletion Syndrome |
|
Gait ataxia, Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migrat... |
ORPHA:75857 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Impaired social interactions, Delayed speech and language development, T... |
OMIM:619775 |
White-Sutton Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... |
ORPHA:468678 |
Johnson Neuroectodermal Syndrome |
|
Choanal stenosis, Anosmia, Microcephaly |
OMIM:147770 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Seizure, Delayed speech and language development, Periventricular nodular heterotopia, Depressed ... |
OMIM:619188 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Ataxia |
OMIM:308750 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Recurrent hand flapping, Gait disturbance, Absent speech, Agitation, Microcephaly, Bruxism |
OMIM:617903 |
Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Seizure, Abnormality of neuronal migration, Ataxia, An... |
ORPHA:2318 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Meningioma |
|
Cognitive impairment, Seizure, Focal-onset seizure, Hemifacial spasm, Ataxia, Difficulty walking,... |
ORPHA:2495 |
Amoebiasis Due To Free-Living Amoebae |
|
Encephalomalacia, Restlessness, Cerebral edema, Seizure, Hyposmia, Ataxia, Abnormal cerebral whit... |
ORPHA:68 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Abnormality of the sense of smell, Aplasia/Hypoplasia of the corpus ca... |
ORPHA:284160 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Seizure, Impaired social interactions, Delayed speech and language development, Moderate receptiv... |
ORPHA:261197 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Short nose |
ORPHA:1295 |
Man1B1-Cdg |
|
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Seizure, Polyphagia, B... |
ORPHA:397941 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Periventricular cysts, Seizure, Hyperintensity of cerebral white matter on MRI, Lateral ventricle... |
ORPHA:544488 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Delayed spee... |
ORPHA:513456 |
Alazami Syndrome |
|
Wide nose, Seizure, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating ... |
ORPHA:319671 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Even-Plus Syndrome |
|
Depressed nasal ridge, Short nose, Bifid nasal tip, Dysplastic corpus callosum, Agenesis of corpu... |
OMIM:616854 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Seizure, Type II lissencephaly, Microcephaly, Diffuse white matter abnor... |
ORPHA:370959 |
Congenital Hypothyroidism |
|
Paresthesia, Anosmia, Depressed nasal ridge |
ORPHA:442 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, EEG with series of focal spikes, Hemiballismus, EEG abnormality, Prominent nasal tip, Rep... |
ORPHA:522077 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Seizure, Primary microcephaly, Absent speech, Compulsive behaviors, Short nose, Abno... |
ORPHA:476126 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
48,Xxyy Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerisms |
ORPHA:10 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Cerebral cortical atrophy, General... |
ORPHA:496641 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Seizure, Lissencephaly, Short... |
OMIM:617822 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Depr... |
OMIM:614105 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Depressed nasal ridge |
OMIM:601016 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Depressed nasal bridge, Impulsivity, Focal impaired awareness seizur... |
OMIM:618929 |
Wilson Disease |
|
Seizure, Hyposmia, Hypoesthesia, Dementia, Decreased nerve conduction velocity, Dysphagia |
OMIM:277900 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Midline brain calcifications, Seizure, Wide nasal bridge, Agyria, Lissen... |
OMIM:247200 |
Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Wide nasal bridge, EEG abnormality, Abnormal repetitive mannerisms, Ataxia, Microcephaly |
ORPHA:2479 |
8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Anosmia, Microcephaly, Seizure |
ORPHA:251066 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Neurocutaneous Melanocytosis |
|
Seizure, Abnormality of neuronal migration, EEG abnormality |
ORPHA:2481 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Periventricula... |
ORPHA:468631 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cognitive impairment, Abnormality of neuronal migration, Seizure |
ORPHA:2063 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
Chiari Malformation Type Ii |
|
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Dysphagia |
OMIM:207950 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Abnormality of neuronal migration, Seizure, Delayed speech and languag... |
ORPHA:464311 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
2Q37 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Broad c... |
ORPHA:1001 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Seizure, Depressed nasal bridge |
ORPHA:2655 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Prominent nose, Head-banging, Lateral ventricle dilatation, Impaired s... |
ORPHA:177907 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Seizure, Absent speech, Hypoplasia of the corpus callosum, Dysplastic corpus... |
OMIM:614924 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Ataxia, Microceph... |
ORPHA:314679 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Coffin-Lowry Syndrome |
|
Wide nose, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... |
ORPHA:192 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Delayed speech and language development, Microcephaly, Difficulty walking, Hypoplasia o... |
OMIM:618653 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis |
OMIM:244400 |
Pyruvate Carboxylase Deficiency |
|
Periventricular cysts, Basal ganglia gliosis, Generalized clonic seizure, Seizure, Hyperintensity... |
ORPHA:3008 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Seizure, Cerebral calcification, Pachygyria, Abnormal basal ga... |
ORPHA:157 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Thin corpus callosum, Periventricular leukomalacia, Ataxia, Short no... |
OMIM:619833 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Psychomotor d... |
ORPHA:319182 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Seizure, Agenesis of corpus callosum, Basal ganglia cysts, Mic... |
OMIM:608836 |
Oculoskeletodental Syndrome |
|
Wide nasal bridge, Broad columella, Depressed nasal bridge, Focal white matter lesions, Dysplasti... |
ORPHA:557003 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Cerebral calcification, Microceph... |
OMIM:617397 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Gray matter heterotopia, Seizure, Wide nasal bridge, Bifid nos... |
OMIM:603671 |
Okur-Chung Neurodevelopmental Syndrome |
|
Wide nasal bridge, Simplified gyral pattern, Delayed speech and language development, Recurrent h... |
OMIM:617062 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Bilateral tonic-cl... |
OMIM:618733 |
Nmda Receptor Encephalitis |
|
Chorea, Generalized-onset seizure, No social interaction, Seizure, Focal-onset seizure, Myoclonus... |
ORPHA:217253 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Seizure, Abnormality of neuronal migration, Gait distu... |
ORPHA:1454 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Choreoacanthocytosis |
|
Hair-pulling, Cerebral cortical atrophy, Abnormal putamen morphology, Lateral ventricle dilatatio... |
ORPHA:2388 |
Moebius Syndrome |
|
Abnormality of the sense of smell, Dysphagia |
ORPHA:570 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Seizure, Impaired social interactions, Simplified gyral pattern, Delayed speech an... |
ORPHA:96121 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Agyria, Lissencephaly, Type II lissencephaly, P... |
OMIM:614643 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Seizure, Delayed speech and language development, Anteverted nares, ... |
ORPHA:261250 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Dysplastic corpus callosum, Seizure, Wide nasal bridge |
OMIM:618810 |
Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Seizure, Gait distu... |
ORPHA:2754 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge, Polymicrogyria |
OMIM:614887 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Hyperactivity, Seizure, Delayed speech and language development, Pear-sh... |
OMIM:610443 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Seizure, Inability to walk, Depressed nasal bridge, Gliosis, Dysphagia |
ORPHA:26791 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Seizure, Cerebral calcification, Pachygyria, Intracerebral per... |
ORPHA:228308 |
Periventricular Nodular Heterotopia |
|
Focal-onset seizure, Periventricular heterotopia |
ORPHA:98892 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Se... |
OMIM:214100 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Seizure, Inability to walk, Absent speech, Short nose, Abnormal repeti... |
ORPHA:508533 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Wide nasal bridge, Delayed speech an... |
ORPHA:453499 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Convex nasal ridge, Periventricular heterotopia, Prominent nasal tip, Depressed nasal bridge, Att... |
OMIM:618870 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Gray matter heterotopia, Inability to walk, Depressed nasal bridge |
OMIM:617563 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Seizure, Delayed speech and language development, Abnormal repetitive ... |
ORPHA:261494 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum, Seizure |
OMIM:619423 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Prominent nasal bridge, Microcephaly |
OMIM:604273 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Periventricular heterotopia, EEG abnormality, Proboscis, Bilateral tonic... |
OMIM:619895 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Wide nasal bridge, Depressed nasal... |
ORPHA:2211 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal ridge, Macrogyria,... |
ORPHA:2671 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge, Microcephaly, Anteve... |
OMIM:605039 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Seizure, Wide nasal bridge, Delayed speech and language development,... |
ORPHA:48652 |
Transketolase Deficiency |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, Compulsiv... |
ORPHA:488618 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell, Cerebral calcification, Dysphagia |
ORPHA:198 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Wide nasal bridge, EEG abnormality, Focal-onset seizure, Repetitive compulsive behavior, Clonic s... |
OMIM:619475 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... |
ORPHA:464306 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Anosmia, Hyposmia |
ORPHA:2250 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Seizure, Depressed nasal bridge |
ORPHA:1860 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Low hanging columella, Dysplastic corpus callosum, Long ... |
ORPHA:363444 |
Dpagt1-Cdg |
|
Epileptic spasm, Cerebral cortical atrophy, Head-banging, Seizure, Focal motor seizure, Akinesia,... |
ORPHA:86309 |
Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Wide nasal bridge, Simplified gyral pattern, Periventricular nodular het... |
OMIM:601390 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Astrocytoma, Ependymoma, Pleomorphic xanthoastrocytoma, Oligodendrogliom... |
OMIM:276300 |
3C Syndrome |
|
Depressed nasal bridge, Abnormality of neuronal migration, Wide nasal bridge, Short nose |
ORPHA:7 |
Nijmegen Breakage Syndrome |
|
Convex nasal ridge, Prominent nose, Abnormality of neuronal migration, Depressed nasal bridge, At... |
ORPHA:647 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Seizure, Focal-onset seizure, Repetitive compulsive behavior, Abnormal social beha... |
ORPHA:805 |
Charge Syndrome |
|
Compulsive behaviors, Depressed nasal bridge, Anosmia, Microcephaly, Attention deficit hyperactiv... |
ORPHA:138 |
Aicardi Syndrome |
|
Gray matter heterotopia, Cavum septum pellucidum, Lateral ventricle dilatation, Seizure, Partial ... |
OMIM:304050 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Repetitive compulsive behavior, Seizure, Ataxia |
ORPHA:66634 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Short nose, Secondary microceph... |
OMIM:618820 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Prominent nose, Seizure, Delayed speech and language development, Thick corpus callosum, Ataxia, ... |
OMIM:300967 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Underdeveloped nasal alae, Gray matter heterotopia, Typical absence seizure, Seizure, Wide nasal ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Underdeveloped nasal alae, Gray matter heterotopia, Typical absence seizure, Seizure, Wide nasal ... |
ORPHA:352665 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Prominent nose, Seizure, Partial agenesis of the corpus callosum, Attent... |
OMIM:305450 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Cystinosis |
|
Polydipsia, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:213 |
Mucopolysaccharidosis Type 2 |
|
Wide nose, Hyperactivity, Cognitive impairment, Seizure, Wide nasal bridge, Abnormal repetitive m... |
ORPHA:580 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Underdeveloped nasal alae, Gray matter heterotopia, Depressed nasal bridge, Anteverted nares |
OMIM:608624 |
Vici Syndrome |
|
Wide nose, Gray matter heterotopia, Seizure, Depressed nasal bridge, Microcephaly, Dysphagia, Sch... |
OMIM:242840 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Seizure |
OMIM:219730 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... |
ORPHA:353281 |
Lacrimoauriculodentodigital Syndrome |
|
Dysphagia, Anosmia, Seizure, Choanal atresia |
ORPHA:2363 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Gray matter heterotopia, Prominent nose, Colpocephaly, Abnormal ... |
OMIM:210710 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Wide nasal bridge, Periventricular nodular heterotopia, Depressed nasal ... |
OMIM:615546 |
Leopard Syndrome 1 |
|
Depressed nasal ridge, Hyposmia |
OMIM:151100 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Prominent nose, Seizure, Shyness, Delayed speech and language development, Pseudobulbar paralysis... |
ORPHA:466791 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia |
OMIM:619718 |
Orofaciodigital Syndrome I |
|
Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Wide nasal bridge, Abnormal cortical... |
OMIM:311200 |
1P36 Deletion Syndrome |
|
Cerebral cortical atrophy, Depressed nasal ridge, Wide nasal bridge, EEG abnormality, Seizure, De... |
ORPHA:1606 |
Witteveen-Kolk Syndrome |
|
Underdeveloped nasal alae, Wide nose, Overhanging nasal tip, Hyperactivity, Bilateral polymicrogy... |
OMIM:613406 |
Bosma Arhinia Microphthalmia Syndrome |
|
Anosmia, Aplasia of the nose, Choanal atresia |
OMIM:603457 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Seizure, Anencephaly, Abnormal cerebral white matter morphology, Type II... |
OMIM:615287 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Lateral ventricle dilatation, Primary mic... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Wide nasal bridge, Inability to walk, Focal-onset seizure, Prominent nasal tip, Broad columella, ... |
ORPHA:2152 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Ischemic stroke, Wide nasal bridge, Lateral ventricle dilatation, Simp... |
ORPHA:500150 |
Zttk Syndrome |
|
Seizure, Wide nasal bridge, Periventricular leukomalacia, Status epilepticus, Short nose, Abnorma... |
OMIM:617140 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... |
ORPHA:353277 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Lateral ventricle dilatation, Primary mic... |
ORPHA:261552 |
White-Kernohan Syndrome |
|
Underdeveloped nasal alae, Short nose, Depressed nasal bridge, Attention deficit hyperactivity di... |
OMIM:619426 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Choanal stenosis, Cerebral cortical atrophy, Microcephaly, Dysplastic corpus callosum, Agenesis o... |
OMIM:151050 |
Charge Syndrome |
|
Arrhinencephaly, Anosmia, Microcephaly, Dysphagia, Choanal atresia |
OMIM:214800 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Wide nasal bridge, Periventricular leukomalacia, Abnormal repetitive mannerisms, Microcephaly, Hy... |
ORPHA:508498 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Hyperactivity, Periventricular heterotopia, Wide nasal bridge, S... |
OMIM:270400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Seizure, EEG abnormality, Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit... |
ORPHA:534 |
Arima Syndrome |
|
Gray matter heterotopia, Polydipsia, Ataxia |
OMIM:243910 |
Norrie Disease |
|
Cerebral cortical atrophy, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Narrow nasal... |
ORPHA:649 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia of the nose, Abnormality of neuronal migration, Microcephaly |
ORPHA:3186 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Bifid nose, Mi... |
OMIM:236680 |
Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Simplified gyral pattern, Absent speech, Partial agenesis of the cor... |
OMIM:615948 |
Genitopatellar Syndrome |
|
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Thin corpus callosum, ... |
OMIM:606170 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Short nose, Depressed n... |
OMIM:612289 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia, Open operculum, Partial agenesis of the corpus callosum, Microcephal... |
ORPHA:434179 |
Pagod Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:991 |
Proteus Syndrome |
|
Gray matter heterotopia, Seizure, Depressed nasal bridge, Anteverted nares, Thick nasal alae |
ORPHA:744 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |