Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... |
ORPHA:280397 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
OMIM:137580 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:618830 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... |
OMIM:608636 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Seizure, Attention d... |
OMIM:618709 |
Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Se... |
ORPHA:101029 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... |
OMIM:209850 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Thin corpus callosum, Gray matter... |
OMIM:615411 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Schizencephaly, Impulsi... |
OMIM:604317 |
Focal Cortical Dysplasia, Type Ii |
|
Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Focal imp... |
OMIM:607341 |
Lissencephaly 3 |
|
Agyria, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Microcephaly... |
OMIM:611603 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Motor seizure, EEG with changes in voltage, Infantile spasms, Hypsarrhythmia, Seizure, Gray matte... |
ORPHA:1084 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Microcephaly, Periventricular heterotopia, Hypsarrhythmia, Seizure, Hypoplasia of the corpus call... |
OMIM:608097 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Abnormality of the sens... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, Dementia, Cerebral cortex with... |
ORPHA:204 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, Focal cortical dy... |
ORPHA:99802 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chorea, Microce... |
OMIM:619150 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Abnormal cerebral white matter mo... |
OMIM:607432 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Thick cerebral cortex, Generalized-onset seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyt... |
OMIM:618677 |
Microlissencephaly |
|
Thick cerebral cortex, Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized o... |
ORPHA:1083 |
Symmetrical Thalamic Calcifications |
|
Cerebral calcification, Ataxia, Microcephaly, Abnormality of neuronal migration, EEG abnormality,... |
ORPHA:1314 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Focal-onset seizure, Cortical dysplasia, Perisylvian polymicrogyria... |
ORPHA:300573 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300425 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus callosum,... |
OMIM:300067 |
Nodular Neuronal Heterotopia |
|
EEG abnormality, Seizure, Abnormality of neuronal migration |
ORPHA:2149 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Prominent nasal bridge, Prominent nose, Reduced cerebral ... |
OMIM:620317 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior, Seizure |
ORPHA:436151 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Sei... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Seiz... |
ORPHA:500166 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... |
ORPHA:561854 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Anteverted nares, Absent septum pellucidum, Aggressive behavior, Prominent nose, Inability to wal... |
OMIM:618492 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Microcephaly, Clonic seizure, Cortical dysplasia, Self-injurious behavior, Seizure, Secondary mic... |
OMIM:615282 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Gait ataxia, Choreoathetosis, Basal ganglia cysts, Astrocytosis, Gait disturbance, Myoclo... |
ORPHA:225154 |
Isolated Focal Cortical Dysplasia |
|
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Thick cerebral cortex, Bil... |
ORPHA:65683 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Impaired social interaction... |
OMIM:617820 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Attention deficit hyperactivity disorder, Difficulty walking, Ment... |
OMIM:619191 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Microcephaly, Unsteady gait, Seizure, Secondary microceph... |
OMIM:614063 |
Periventricular Nodular Heterotopia 6 |
|
Infantile spasms, Focal motor seizure, Hypsarrhythmia, Seizure, Periventricular nodular heterotopia |
OMIM:615544 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Microcephaly, Aggressive behavior, Seizure, Bruxism |
OMIM:615493 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Focal cortical dysplasia, Bilateral tonic-clonic seizure, Simple febr... |
ORPHA:98820 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Aggressive behavior, Dysplastic corpus callosum, Seizure, Primary microcephaly, Overfriendliness |
OMIM:618010 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... |
OMIM:617171 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Unilateral polymicrogyria, Infantile spasms, Microcephaly, Partial age... |
OMIM:610031 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Chorea, Diffuse spongiform leukoencephalopathy, EEG with persist... |
ORPHA:282166 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Seizure, Microcephaly |
OMIM:618572 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Microcephaly, Inability to walk, Chorea, Cerebral atrophy, Myoclonic seizure, Se... |
OMIM:614254 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... |
OMIM:239500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Simplified gyral pattern, Sei... |
OMIM:619470 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Periventricular nodular heterotopia, Reduced cerebral white matter volume |
OMIM:618185 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Seizure, Small cerebral cortex, Atten... |
OMIM:608716 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Hypsarrhythmia, Seizure, Status epilepticus, Secondary microcephaly, Abnormal ... |
OMIM:617830 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Maternal Hyperthermia-Induced Birth Defects |
|
Microcephaly, Abnormality of neuronal migration, EEG abnormality, Seizure, Cognitive impairment |
ORPHA:2216 |
Developmental And Epileptic Encephalopathy 107 |
|
Microcephaly, Tonic seizure, Clonic seizure, Seizure, Abnormal repetitive mannerisms, Progressive... |
OMIM:620033 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Hypoplasia of the corpus callosum,... |
OMIM:617862 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... |
OMIM:617113 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Narrow nasal bridge, Probst bundles, Anteverted nares, Impulsivity, Aggressive behavior, Seizure,... |
OMIM:618286 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h... |
OMIM:620065 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Subependymal Nodular Heterotopia |
|
Interictal EEG abnormality, Focal cortical dysplasia, Focal-onset seizure, Partial agenesis of th... |
ORPHA:101030 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Leber Congenital Amaurosis 10 |
|
Hyposmia, Seizure |
OMIM:611755 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... |
OMIM:221770 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Broad nasal tip, Focal-onset seizure, Cerebral atrophy, Seizure,... |
OMIM:617393 |
Lissencephaly 4 |
|
Wide nasal bridge, Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Primary microc... |
OMIM:614019 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... |
OMIM:616540 |
Progressive Non-Fluent Aphasia |
|
Restlessness, Neurofibrillary tangles, Frontotemporal dementia, Temporal cortical atrophy, Astroc... |
ORPHA:100070 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Megalencephaly, Inability to walk, Wide nasal bridge, Astrocytosis, Seizure, Difficulty walking |
OMIM:611087 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Hyperactiv... |
ORPHA:1929 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hyposmia, Leukoencephalo... |
OMIM:613724 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum |
OMIM:619101 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Chorea, Self-injurious behavior, EEG abnormality, Convuls... |
OMIM:618760 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... |
OMIM:618917 |
Cdkl5-Deficiency Disorder |
|
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Multifocal epileptiform discharge... |
ORPHA:505652 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Microcephaly, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure... |
OMIM:618718 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300495 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Anosmia, Distal sensory impairment, Seizure, Dementia, Gai... |
OMIM:606693 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anterior limb... |
ORPHA:171680 |
Bilateral Striopallidodentate Calcinosis |
|
Seizure, Cerebral calcification, Abnormality of neuronal migration, Microcephaly |
ORPHA:1980 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Seizure, Dementia, Progressive language deterioration, Imp... |
ORPHA:168782 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Microcephaly, Inability to walk, Bulbous nose, Limb ataxia, Self-injuri... |
OMIM:617695 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Abnormal rep... |
OMIM:172700 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Globus pallidus calcification, Bilateral tonic-clonic seizure, Aggressive behavior... |
OMIM:620292 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... |
OMIM:608049 |
Cln5 Disease |
|
Generalized-onset seizure, Dysmetria, EEG with focal spikes, Hyperactivity, Ataxia, Seizure, Trun... |
ORPHA:228360 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Microcephaly, Bulbous nose, Seizure, Difficulty walking, Hypoplasia of th... |
ORPHA:280763 |
Hsd10 Disease |
|
Short attention span, Ataxia, Microcephaly, Choreoathetosis, Seizure, Frontotemporal cerebral atr... |
ORPHA:391417 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Atonic seizure, Infantile spasms, Broad nasal tip, Inab... |
ORPHA:411986 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Anteverted nares, Tonic seizure, Inability to wa... |
OMIM:618497 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior, Chin myoclonus |
ORPHA:53372 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Prominent nasal bridge, Microcephaly, Inability ... |
OMIM:619877 |
Superficial Siderosis |
|
Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensation, Unsteady gait, ... |
ORPHA:247245 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... |
ORPHA:208447 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, Thick nasal alae, EEG with polyspik... |
ORPHA:1942 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Thick co... |
OMIM:618273 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Mi... |
ORPHA:89844 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Wide nasal bridge, Cerebral atrophy, Myoclonic seizure, Self-injurious behavior, Abnormal repetit... |
OMIM:619690 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Cerebellar gliosis, EEG with focal spikes, Gliosis, Basa... |
ORPHA:79243 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Frontal lobe dementia, Dementia, Agitation, Gai... |
ORPHA:2828 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Painless fr... |
OMIM:243000 |
Atypical Rett Syndrome |
|
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Impaired pain sensation, I... |
ORPHA:3095 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Pol... |
OMIM:600348 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Simple febr... |
ORPHA:2524 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Diffuse cerebral atrophy, Ataxia, Confusion, Aggressive behavior, Chorea, Dysme... |
OMIM:607136 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Porencephalic cyst, Leukoencephalopathy, Gray matter heterotopia, S... |
OMIM:615191 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggre... |
OMIM:619580 |
Lissencephaly 6 With Microcephaly |
|
Anteverted nares, Periventricular heterotopia, Microcephaly, Bulbous nose, Partial agenesis of th... |
OMIM:616212 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Broad nasal tip, Self-injurious behavior, Compulsive behaviors, Attention de... |
OMIM:613670 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Microcephaly, Bulbous nose, Seizure, Gait disturbance, Inappropriate laugh... |
OMIM:614104 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Anteverted nares, Seizure, Inappropriate laughter, Hypoplasia of the corpus callosum, Recurrent h... |
OMIM:618859 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Generalized-onset seizure, Hypoesthesia, Dysplastic corpus callosum... |
OMIM:619737 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly |
OMIM:618276 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Seizure, Dysgyria, Abnormal cerebral white matter morphology, Type II li... |
ORPHA:352682 |
Christianson Syndrome |
|
Generalized-onset seizure, Abnormality of the nose, Microcephaly, Dysphagia, Gait ataxia, Aplasia... |
ORPHA:85278 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Neurofibrillary tangles, Seizure, Dementia, Agitation, Disinhibition, Semantic... |
ORPHA:1020 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Microcephaly, Seizure, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:618906 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosu... |
OMIM:616171 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Depressed nasal bridge, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:444002 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Microcephaly, EEG with burst suppression, Wide nasal bridge, Neuro... |
ORPHA:168486 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Chorea, Tongue thrusting, Bulbous nose, Simplified gyral pattern, Athetos... |
OMIM:613454 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Anteverted nares, ... |
OMIM:300912 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum |
OMIM:613162 |
Brain Small Vessel Disease 2 |
|
Schizencephaly, Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Por... |
OMIM:614483 |
Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, Thick cerebral cortex, EEG with focal spike waves, Bilateral tonic-cl... |
ORPHA:352582 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Microcephaly, Gray matter heterotopia, Seizure, Cognitive impairment, Dysphagia |
OMIM:617008 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Simplified gy... |
OMIM:620001 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Abnormal c... |
ORPHA:79264 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Prominent n... |
OMIM:618218 |
Periventricular Nodular Heterotopia 7 |
|
Ataxia, Anteverted nares, Infantile spasms, Cortical dysplasia, Generalized non-motor (absence) s... |
OMIM:617201 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Prominent nasal bridge, Aggressive behavior, Microcephaly, Gait ataxia, Abnormal r... |
OMIM:609425 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se... |
ORPHA:258 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Impulsivity, Akinesia, Dementia, Agitation, Shuffling gait, Gliosis, Dysphagia, Ment... |
ORPHA:411602 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Broad nasal tip, Microcephaly, Seizure, Abnormal temper tantrums, Abnormal... |
ORPHA:530983 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, EEG abnormality, Seizure, Lissencephaly, Polymicrogyria... |
OMIM:614833 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Underdeveloped... |
OMIM:618825 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Periventricular cysts, Seizure, Hypoplasia of the corpus cal... |
ORPHA:255138 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia, Seizure, Attention d... |
OMIM:618974 |
Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Nocturnal seizures, Myoclonus, Atte... |
OMIM:619725 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Seizure, Anosmia |
OMIM:610628 |
Lopes-Maciel-Rodan Syndrome |
|
Caudate atrophy, Unsteady gait, Bruxism, Cerebral atrophy, Seizure, Agitation, Focal impaired awa... |
OMIM:617435 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... |
ORPHA:98794 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... |
OMIM:617600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Depressed nasal bridge, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Bulbous n... |
OMIM:619103 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Anteverted nares, Microcephaly, Repetitive compulsive behavior, Wide nasal bridge,... |
ORPHA:352490 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Short nose, Simplified gyral pa... |
OMIM:619179 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia, Hypoplasia of the corpus callosum |
OMIM:615996 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Microcephaly, Inability to walk, Focal-onset seizure, Dysphagia, Cerebral... |
OMIM:617802 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Anosmia, Distal sensory impairment, Steppage gait, Pos... |
OMIM:601152 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Sei... |
ORPHA:228402 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Microcephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Tip-toe gait, D... |
ORPHA:370980 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Microcephaly, Inability to walk, Gait ataxia, Seizure, Hypoplasia of the ... |
DECIPHER:45 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia, Seizure, Hypoplasia of the corpus cal... |
OMIM:300049 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Anteverted nares, Depressed nasal bridge, Inability to walk, Seizure, Abnormal cerebral white mat... |
OMIM:613443 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Developmental And Epileptic Encephalopathy 64 |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Microcephaly, Inability to walk, Chore... |
OMIM:618004 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Microcephaly, Focal-onset seizure,... |
OMIM:619092 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... |
OMIM:301029 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Seizure, Anosmia |
OMIM:244200 |
Tetrasomy 18P |
|
Microcephaly, Abnormality of neuronal migration, Seizure, Gait disturbance, Short nose |
ORPHA:3307 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... |
ORPHA:98784 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Microcephaly, Abnormality of neuronal migration, Seizure, Abnormal cerebral white matter morpholo... |
OMIM:300957 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Ataxia, Total anosmia |
OMIM:614879 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Delayed early-child... |
ORPHA:300570 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Cerebral calcificati... |
OMIM:617281 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Generalized-onset seizure, Ataxia, Prominent nasal bridge, Inability to wa... |
ORPHA:357058 |
Alg11-Cdg |
|
Cerebral white matter atrophy, Ataxia, Microcephaly, EEG with burst suppression, Cerebral atrophy... |
ORPHA:280071 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... |
OMIM:615516 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Anosmia, Seizure, Polydipsia, Agenesis of corpus... |
ORPHA:3157 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Ataxia, Periventricular heterotopia, Focal-onset seizure, Bulbous nose, H... |
OMIM:618476 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Infantile spasms, Myoclonic seizure, Dysphagia, Pachygyri... |
ORPHA:572013 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Polyphagia |
OMIM:617885 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo... |
OMIM:601104 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Hypoplasia of the corpus callosum, Short nose, Abnormal repetitive mannerisms, Cerebral ... |
ORPHA:85277 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Gray matter heterotopia, Seizure, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:164180 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Lewy bodies, Dementia, Substantia nigra gliosis |
OMIM:607060 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hyposmia, Agenesis of corpus callosum, Anosmia, Choanal atresia |
OMIM:147950 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Anteverted nares, Depressed nasal bridge, Wide nose, Aggressiv... |
OMIM:600430 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Broad nasal tip, Generalized non-motor... |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Anteverted nares, Prominent nasal bridge, Microcephaly, Seizure, Lateral ventricle... |
OMIM:617751 |
Radio-Tartaglia Syndrome |
|
Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Depressed nasal bridge, Prominent nas... |
OMIM:619312 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astr... |
OMIM:203700 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Cessation of head growth, E... |
ORPHA:411511 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Anteverted nares, Microcephaly, Gray matter heterotopia, Seizure, Thin corpus callosum |
OMIM:619694 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Microcephaly, Prominent nose, Aggressive behavior, Abnormal repetitive mannerisms |
OMIM:615541 |
5Q14.3 Microdeletion Syndrome |
|
Anteverted nares, Seizure, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Short nos... |
ORPHA:228384 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... |
OMIM:607485 |
Bardet-Biedl Syndrome 17 |
|
Hyposmia, Polydipsia, Anosmia, Cognitive impairment |
OMIM:615994 |
3-Hydroxyisobutyric Aciduria |
|
Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly |
OMIM:236795 |
Gorlin Syndrome |
|
Cerebral calcification, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Galloway-Mowat Syndrome 6 |
|
Anteverted nares, Microcephaly, Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of lau... |
OMIM:618347 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Wide nasal bridge, Head-banging, EEG abnorm... |
OMIM:182290 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Self-injurious behavior, Seizu... |
ORPHA:449291 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge, EEG abnormality, Seizure |
ORPHA:44 |
Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum |
OMIM:231950 |
Fragile X Syndrome |
|
Hyperactivity, Periventricular heterotopia, Self-biting, Seizure, Recurrent hand flapping |
OMIM:300624 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... |
OMIM:616488 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... |
ORPHA:488627 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Anteverted nares, Depressed nasal bridge, Tonic seizure, Prominent na... |
OMIM:300260 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Microcephaly, EEG abnormality, Seizure, Hypoplasia of t... |
OMIM:610883 |
Hydrolethalus |
|
Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Abnormality of the sense of s... |
ORPHA:2189 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Broad nasal tip,... |
OMIM:618354 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... |
OMIM:616900 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose |
OMIM:614838 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Depressed nasal bridge, Infantile spasms, Underdeveloped nasal al... |
ORPHA:457351 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, Pachygyria, Abnormal repetitive manneris... |
OMIM:619777 |
Cockayne Syndrome Type 3 |
|
Cerebral white matter atrophy, Progressive neurologic deterioration, Narrow nose, Basal ganglia c... |
ORPHA:90324 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Depressed nasal bridge, Infantile spasms, Aggressive behavior, Microcephaly, Hair-pulling... |
OMIM:616393 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Cerebral calcification, Bilat... |
OMIM:620024 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Broad nasal tip, Seizure, Tics, Attention deficit hyperactivity disorder,... |
OMIM:617808 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Microcephaly, Seizure, Agitation, Cognitive impairment, Abnormal repetitive ma... |
ORPHA:927 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Anteverted nares, Aggressive behavior, Microcephaly, Wide na... |
OMIM:618342 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Seizure, Secondary microcephaly, Attent... |
OMIM:620242 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Anosmia |
OMIM:266500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Underdeveloped nasal alae, Self-injurious behavior, Seizure, Gait di... |
OMIM:300986 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Bulbous nose, Seizure, Diminished ability to concentrate, Attention deficit hyperactivity... |
OMIM:615656 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Microcephaly, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Attention... |
OMIM:619121 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, Hypsarrhy... |
OMIM:619229 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia, Seizure, Cerebral atrophy, Microcephaly |
OMIM:300337 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Generalized-onset seizure, Reduced cerebral white matter volume, Microcephaly, ... |
OMIM:617807 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Anteverted nares, Infantile spasms, Inability to ... |
OMIM:300672 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Infantile spasms, Prominent nose, Unsteady gait, Wide nasal bridge, Myoclonic s... |
OMIM:618205 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Seizure, Hypoplasia of the corpus callosu... |
ORPHA:500159 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Seizure, Gait disturbance, Gliosis, Abnormal repeti... |
ORPHA:457240 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Microcephaly, Abnormality of the sense of smell |
ORPHA:3201 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:612702 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Broad nasal tip, Repetitive compulsive behavior, Recurrent upper respirator... |
ORPHA:391372 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Abnormal globus pallidus morphology, A... |
ORPHA:309854 |
Angelman Syndrome |
|
Hyperactivity, Ataxia, Cerebral dysmyelination, Tongue thrusting, EEG abnormality, Seizure, Myocl... |
ORPHA:72 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Microcephaly, Chorea, A... |
ORPHA:2162 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Depressed nasal bridge, Infantile spasms, Hair-pul... |
ORPHA:447997 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia |
OMIM:612069 |
16P13.11 Microdeletion Syndrome |
|
Generalized-onset seizure, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormality of... |
ORPHA:261236 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Ataxia, Confusion, Abnormal basal ganglia morphology, Seizure, Abnormal cerebral wh... |
ORPHA:68 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Decreased nerve conduction ... |
OMIM:609136 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Progressive neurologic deterioration, Microc... |
OMIM:252650 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis... |
OMIM:619955 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Abnormality of neuronal migration, Seizure, Short nose |
ORPHA:1895 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Joubert Syndrome |
|
Ataxia, Anteverted nares, Prominent nasal bridge, Abnormality of neuronal migration, Aplasia/Hypo... |
ORPHA:475 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Seizure, Compul... |
OMIM:618430 |
Leber Congenital Amaurosis |
|
Seizure, Abnormality of neuronal migration |
ORPHA:65 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Wide nasal bridge, Se... |
OMIM:619293 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Anosmia |
OMIM:144755 |
Desmosterolosis |
|
Depressed nasal bridge, Abnormal cortical gyration, Absent septum pellucidum, Abnormality of the ... |
ORPHA:35107 |
Kallmann Syndrome |
|
Ataxia, Anosmia, Seizure, Gait disturbance, Hyposmia |
ORPHA:478 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow nasal bridge, Depressed nasal bridge, Wide nasal bridge, Seizure, Agenesis of corpus callo... |
OMIM:620073 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory... |
ORPHA:2388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... |
OMIM:620141 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Broad nasal tip, Microcephaly, Self-biting, Seizure, Abnormal... |
ORPHA:3306 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Rett Syndrome |
|
Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Seizure, Secondary microcephaly, Truncal ata... |
OMIM:312750 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hyposmia, Anosmia, Ataxia |
OMIM:308700 |
Smith-Magenis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Microcephaly, Wide nasal bridg... |
ORPHA:819 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Infantile spasms, Impulsivity, Periventricular heterotopia, Self-injuriou... |
OMIM:618929 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Ataxia, Abnormal cortical gyration, Anteverted nares, Aggressive behavior, Bulbous nos... |
ORPHA:314647 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Short columella, Impaired socia... |
OMIM:619775 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Microcephaly, Wide nasal bridge, Abnormality of neuronal migration, Seizure, Ce... |
ORPHA:2518 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Depressed nasal bridge, Aggressive behavior, Microcephaly, Bulbous nose, Wide... |
OMIM:617061 |
Johnson Neuroectodermal Syndrome |
|
Bulbous nose, Anosmia, Choanal atresia, Microcephaly |
ORPHA:2316 |
Thanatophoric Dysplasia Type 2 |
|
Seizure, Depressed nasal bridge, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:93274 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Microcephaly, Anosmia, Pyrif... |
OMIM:147250 |
Refsum Disease |
|
Anosmia, Ataxia |
ORPHA:773 |
Galloway-Mowat Syndrome |
|
Microcephaly, Abnormality of neuronal migration, EEG abnormality, Seizure, Cognitive impairment, ... |
ORPHA:2065 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachygyria, Abnormality of ne... |
ORPHA:899 |
Periventricular Nodular Heterotopia 9 |
|
Broad-based gait, Microcephaly, Focal-onset seizure, Gray matter heterotopia, Interictal epilepti... |
OMIM:618918 |
4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Self-injurious behavior, Seizure, Agenesis of corpus callosum, Abnormal r... |
ORPHA:238750 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Microcephaly, Seizure, Gait disturbance, Impaired social i... |
OMIM:300352 |
Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Ataxia |
OMIM:308750 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Abnormality of the sense of smell |
OMIM:616113 |
Macrocephaly-Developmental Delay Syndrome |
|
Wide nasal bridge, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with gen... |
ORPHA:397612 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Periventricular cysts, Thick corpu... |
ORPHA:544488 |
Vici Syndrome |
|
Depressed nasal tip, Gray matter heterotopia, EEG abnormality, Seizure, Agenesis of corpus callos... |
ORPHA:1493 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (abse... |
OMIM:615802 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Prominent nose, Aggressive behavior, Microcephaly, Abnormal cerebral white matter ... |
ORPHA:391307 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, ... |
OMIM:617796 |
Chromosome 5P13 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Self-injurious behavior, Seizure, Agenesis of corpus callosum, C... |
OMIM:613174 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of t... |
ORPHA:284160 |
Man1B1-Cdg |
|
Broad-based gait, Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Seiz... |
ORPHA:397941 |
Joubert Syndrome With Oculorenal Defect |
|
Anteverted nares, Prominent nasal bridge, Ataxia, Abnormality of neuronal migration, Aplasia/Hypo... |
ORPHA:2318 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Abnormality of the sense of smell |
ORPHA:91412 |
Meningioma |
|
Hemifacial spasm, Ataxia, Focal-onset seizure, Abnormality of the sense of smell, Seizure, Transi... |
ORPHA:2495 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Anteverted nares, Bilateral tonic-clonic seizure, Secondary microcephaly, Bruxi... |
OMIM:616351 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Seizure, Di... |
ORPHA:531151 |
Rett Syndrome |
|
Inability to walk, EEG abnormality, Seizure, Progressive microcephaly, Gait disturbance, Agitatio... |
ORPHA:778 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Anosmia |
OMIM:614880 |
3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure, Anteverted nares, Prominen... |
ORPHA:435638 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Seizure, Attention defi... |
ORPHA:401777 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Microcephaly, Bulbous nose, Seizure, Agenesis of corpus callosum, Short n... |
ORPHA:261144 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Microcephaly, Depressed nasal ridge, Seizure, Attention deficit hyperactivity disorder... |
ORPHA:1727 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Impaired pain sensation, Microcephaly, Bulbous nose, Tongu... |
OMIM:606232 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Bulbous nose, Seizure, Attention deficit ... |
OMIM:619188 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Short nose, Agenesis of corpu... |
OMIM:616854 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Wide nasal bridge, Diffic... |
OMIM:123450 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Anosmia |
OMIM:614897 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microcephaly, Diffuse white matter abnormalities, Gray matter heterotopia, Seizure, Polymicrogyri... |
ORPHA:370959 |
Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, St... |
ORPHA:319671 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Depressed nasal bridge, Periventricular heterotopia, Aggressive behavior, Microcephaly, S... |
OMIM:619833 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Decreased nerve conduction velocity, Chorea, Progressive psychomotor deteri... |
ORPHA:309271 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal ... |
ORPHA:314679 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Microcephaly, Bulbous nose, Simplified gyral pattern, Gray matter heterotopia, Seizure, Colpoceph... |
OMIM:615219 |
Wilson Disease |
|
Decreased nerve conduction velocity, Hypoesthesia, Seizure, Dementia, Dysphagia, Hyposmia |
OMIM:277900 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Micro... |
OMIM:616364 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Head-banging, Seizure, Status epilep... |
OMIM:618569 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Agenesis of corpus callosum, Ataxia, Dysphagia |
OMIM:207950 |
Hijazi-Reis Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, Microcephaly, Bulbous nose... |
OMIM:614105 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Seizure |
OMIM:617622 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309263 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Hypsarrhythmia, Gait a... |
ORPHA:75857 |
Miller-Dieker Lissencephaly Syndrome |
|
Epileptic spasm, Anteverted nares, Infantile spasms, Microcephaly, Wide nasal bridge, Seizure, Gr... |
OMIM:247200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Prominent nose, Long nose, Gait ataxia, Seizure, Abnormal repetitive mannerisms, S... |
OMIM:300486 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormality of neuronal migrat... |
ORPHA:192 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
48,Xxyy Syndrome |
|
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:10 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Abnormal cerebral white matter morphology, L... |
ORPHA:457279 |
8P11.2 Deletion Syndrome |
|
Seizure, Anosmia, Depressed nasal bridge, Microcephaly |
ORPHA:251066 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent nasal bridge, Periventricular heterotopia, Microcephaly, Cortical dysplasia, Simplified... |
ORPHA:468631 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Neurocutaneous Melanocytosis |
|
EEG abnormality, Seizure, Abnormality of neuronal migration |
ORPHA:2481 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, Hyposmia, Abnormal repetitiv... |
OMIM:618653 |
White-Sutton Syndrome |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Microcephaly, Self-i... |
ORPHA:468678 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, Anteverted nares, Infantile spasms, Cerebral atrophy, Gray matter heterot... |
OMIM:618797 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Wide nose, Severe temper tantrums, Anteverted nares, Depressed nasal bridge, Compu... |
OMIM:618027 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Seizure, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... |
ORPHA:261197 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Primary microcephaly, Gait ataxia, Seizure, Secondary microcephaly, Attentio... |
ORPHA:476126 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Microcephaly, Head-bangin... |
ORPHA:177907 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... |
ORPHA:309256 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Gray matter heterotopia, Seizure, Lateral ventricle dilatat... |
OMIM:617397 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Seizure, Depressed nasal bridge |
ORPHA:2655 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Abnormality of the sense of smell |
ORPHA:140 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Pachygyria, Abnormality of neuronal migration, Abnormal basal ganglia mor... |
ORPHA:157 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Periventricular heterotopia, Decreased nerve co... |
OMIM:618733 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Microcephaly, Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, EEG... |
OMIM:619005 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Microcephaly, Wide nasal bridge, EEG abnormality, Seizure, Abnormal repetitive mannerisms |
ORPHA:2479 |
Moebius Syndrome |
|
Abnormality of the sense of smell, Dysphagia |
ORPHA:570 |
Oculoskeletodental Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... |
ORPHA:557003 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Abnormal periventricular white matter morphology |
OMIM:615960 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Bulbous nose, Abnormality of neuronal... |
OMIM:608836 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Depressed nasal bridge, Anteverted nares, Absent septum pellucidum, Periventricular heterotopia, ... |
OMIM:618870 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Wide nasal bridge, Gray matt... |
OMIM:603671 |
Joubert Syndrome With Hepatic Defect |
|
Anteverted nares, Ataxia, Prominent nasal bridge, Abnormality of neuronal migration, Aplasia/Hypo... |
ORPHA:1454 |
2Q37 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microcephaly, Seizure, Atten... |
ORPHA:1001 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Gray matter ... |
OMIM:617822 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Bulbous nose, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Anosmia |
ORPHA:52901 |
Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Inability to walk, Gray matter heterotopia, Seizure, Gliosis, Dysphagia |
ORPHA:26791 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Seizure, Dysplastic corpus callosum, Anteverted nares, Wide nasal bridge |
OMIM:618810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... |
OMIM:614643 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Prominent nasal bridge, Simple febrile seizure, Microcephaly, Abnormality of neuronal migration, ... |
ORPHA:464311 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... |
OMIM:619475 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Wide nasal bridge, Gray matter heterotopia, Seizure, Polymicrogyria |
OMIM:614887 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Prominent nasal bridge, Broad nasal tip, Abnormality of neuronal migration, Aplasia/Hypop... |
ORPHA:2754 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Anteverted nares, Depressed nasal bridge, Micro... |
ORPHA:513456 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:620330 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Pachygyria, Abnormality of ... |
ORPHA:228308 |
Nmda Receptor Encephalitis |
|
Short attention span, Generalized-onset seizure, Confusion, Hypersexuality, EEG with temporal sha... |
ORPHA:217253 |
Periventricular Nodular Heterotopia |
|
Focal-onset seizure, Periventricular heterotopia |
ORPHA:98892 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Progressive neurologic deterioration, Chorea, Progressive gait ataxia,... |
ORPHA:646 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Primary microcephaly, Secondary microcephaly, Hypoplasia ... |
ORPHA:496641 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Broad nasal tip, Unsteady gait, Polyphagia, Si... |
ORPHA:96121 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Prominent nasal bridge, Convex nasal ridge, Aggressive behavior, Microcephaly, Unsteady gait, Sei... |
OMIM:212066 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Impulsivity, Shyness, Microcephaly, Cerebral atrophy, Seizure, Attention ... |
OMIM:301030 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Microcephaly... |
ORPHA:319182 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Ataxia |
OMIM:617563 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Prominent nasal bridge, Impulsivity, Microcephaly, Bulbous nose, Pear-shaped nose,... |
OMIM:610443 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... |
ORPHA:805 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Depressed nasal bridge, Head-banging, Self-injurious behavior, Seizure, Lat... |
OMIM:619575 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Prominent nasal bridge, Microcephaly |
OMIM:604273 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Seizure, Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Holoprosencephaly 14 |
|
Anteverted nares, Bilateral tonic-clonic seizure, Proboscis, Periventricular heterotopia, Absent ... |
OMIM:619895 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Depressed nasal ridge, Abnormality of neuronal migration,... |
ORPHA:2211 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Narrow nasal ridge, Tonic seizure, Microcephaly, B... |
OMIM:619512 |
Neu-Laxova Syndrome |
|
Cerebral calcification, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachy... |
ORPHA:2671 |
Bohring-Opitz Syndrome |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge, Gray matter heterotopi... |
OMIM:605039 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... |
OMIM:614924 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Aggressive behavior, Microcephaly, Seizure, Compulsive behaviors, Abnormal repe... |
OMIM:610253 |
Pilarowski-Bjornsson Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Pitt-Hopkins Syndrome |
|
Microcephaly, Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Seizure, ... |
OMIM:610954 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell, Cerebral calcification, Dysphagia |
ORPHA:198 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Gray matter hete... |
OMIM:618820 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Total anosmia |
ORPHA:2326 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Anteverted nares, Unsteady gait, Aplasia/Hypoplasia of the corpus callosum, Seizure, Gray matter ... |
OMIM:214100 |
16Q24.3 Microdeletion Syndrome |
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Anteverted nares, Periventricular heterotopia, Seizure, Colpocephaly, Hypoplasia of the corpus ca... |
ORPHA:261250 |
Kleefstra Syndrome |
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Anteverted nares, Aggressive behavior, Microcephaly, Self-injurious behavior, Seizure, Agenesis o... |
ORPHA:261494 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Impaired pain sensation, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Gray matter ... |
ORPHA:453499 |
Monosomy 22Q13.3 |
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Hyperactivity, Impaired pain sensation, Hair-pulling, Bulbous nose, Wide nasal bridge, Seizure, B... |
ORPHA:48652 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Anteverted nares, Aggres... |
OMIM:614756 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Hyposmia, Anosmia, Absent nares, Single naris |
ORPHA:2250 |
Nijmegen Breakage Syndrome |
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Depressed nasal bridge, Prominent nasal bridge, Glioma, Prominent nose, Microcephaly, Abnormality... |
ORPHA:647 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Anteverted nares, Tonic seizure, Broad nasal tip, Abnormal repetitive mannerisms, ... |
OMIM:615873 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Oligodendroglioma, Ependymom... |
OMIM:276300 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Seizure, Depressed nasal bridge |
ORPHA:1860 |
Opitz-Kaveggia Syndrome |
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Choanal atresia, Prominent nose, Partial agenesis of the corpus callosum, Gray matter heterotopia... |
OMIM:305450 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Wide nasal bridge, Gray matter heterotopi... |
OMIM:601390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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EEG with parietal focal spikes, Short attention span, Multifocal seizures, Depressed nasal bridge... |
OMIM:301066 |
3C Syndrome |
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Short nose, Wide nasal bridge, Depressed nasal bridge, Abnormality of neuronal migration |
ORPHA:7 |
Charge Syndrome |
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Depressed nasal bridge, Choanal atresia, Microcephaly, Anosmia, Compulsive behaviors, Attention d... |
ORPHA:138 |
Rauch-Steindl Syndrome |
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Hyperactivity, Depressed nasal bridge, Aggressive behavior, Microcephaly, Wide nasal bridge, Abno... |
OMIM:619695 |
Aicardi Syndrome |
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Epileptic spasm, Anteverted nares, Infantile spasms, Microcephaly, Partial agenesis of the corpus... |
OMIM:304050 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Broad-based gait, Pain insensitivity, Ataxia, Anteverted nares, Prominent nasal bridge, Broad nas... |
OMIM:617330 |
Mucopolysaccharidosis Type 2 |
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Short attention span, Hyperactivity, Wide nose, Impulsivity, Aggressive behavior, Progressive neu... |
ORPHA:580 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Impaired pain sensation, Underdeveloped nasal alae, Inability to walk, Typical absence seizure, B... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Impaired pain sensation, Underdeveloped nasal alae, Inability to walk, Typical absence seizure, B... |
ORPHA:352665 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Anteverted nares, Infantile spasms, Choanal ... |
OMIM:301044 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Narrow nasal bridge, Ataxia, Impulsivity, Prominent nose, Aggressive behavior, Dysplastic corpus ... |
OMIM:300967 |
Waardenburg Syndrome, Type 2E |
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Anosmia |
OMIM:611584 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Generalized-onset seizure, Anteverted nares, Depressed nasal bridge, Microcephaly, Long nose, Ina... |
ORPHA:508533 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Narrow nasal bridge, Ataxia, Prominent nasal bridge, Shyness, Aggressive behavior, Prominent nose... |
ORPHA:466791 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae |
OMIM:608624 |
Vici Syndrome |
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Wide nose, Schizencephaly, Depressed nasal bridge, Microcephaly, Gray matter heterotopia, Seizure... |
OMIM:242840 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Anteverted nares, Depressed nasal bridge, Bilateral tonic-clonic seizure, Microcephaly, Cerebral ... |
OMIM:301040 |
Kinsship Syndrome |
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Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Bulbous nose, Generalized non-... |
OMIM:619297 |
Lacrimoauriculodentodigital Syndrome |
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Seizure, Anosmia, Choanal atresia, Dysphagia |
ORPHA:2363 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Anteverted nares, Abnormal cortical gyration, Progressive neurologic deterioration, Prominent nos... |
OMIM:210710 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Narrow nasal tip, Prominent nasal bridge, Microcephaly, Seizure, Gait disturbance,... |
ORPHA:464306 |
Van Maldergem Syndrome 2 |
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Depressed nasal bridge, Subcortical band heterotopia, Wide nasal bridge, Gray matter heterotopia,... |
OMIM:615546 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Anosmia |
OMIM:619718 |
Leopard Syndrome 1 |
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Hyposmia, Depressed nasal ridge |
OMIM:151100 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Seizure |
OMIM:219730 |
Thanatophoric Dysplasia, Type I |
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Gray matter heterotopia, Temporal lobe dysplasia |
OMIM:187600 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Long nose, Dysplastic corpus callosum, Low hanging columella |
ORPHA:363444 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Aggre... |
OMIM:613406 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Underdeveloped nasal alae, Microcephaly, Porencephalic cyst, Wide nas... |
OMIM:311200 |
White-Kernohan Syndrome |
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Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
Transketolase Deficiency |
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Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Bosma Arhinia Microphthalmia Syndrome |
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Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
Cystinosis |
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Polydipsia, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Absent septum pellucidum, Cortical dysplasia, Anencephaly, Gray matter heterotopia, Seizure, Abno... |
OMIM:615287 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Generalized-onset seizure, Depressed nasal bridge, Abnormal cerebral cortex morphology, Dysplasti... |
ORPHA:500150 |
Zttk Syndrome |
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Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Seizure, Abnormal cerebral... |
OMIM:617140 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Mowat-Wilson Syndrome |
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Large basal ganglia, Abnormal repetitive mannerisms, Broad columella, Agenesis of corpus callosum... |
ORPHA:2152 |
Waardenburg Syndrome, Type 4C |
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Anosmia |
OMIM:613266 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Depressed nasal bridge, Broad nasal tip, Microcephaly, Bulbous nose, Cerebral atro... |
OMIM:309590 |
Charge Syndrome |
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Choanal atresia, Microcephaly, Anosmia, Dysphagia, Self-mutilation |
OMIM:214800 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Lenz-Majewski Hyperostotic Dwarfism |
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Choanal atresia, Microcephaly, Dysplastic corpus callosum, Choanal stenosis, Agenesis of corpus c... |
OMIM:151050 |
1P36 Deletion Syndrome |
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Depressed nasal bridge, Microcephaly, Polyphagia, Wide nasal bridge, Depressed nasal ridge, Self-... |
ORPHA:1606 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Diffuse cerebral atrophy, Anteverted nares, Depressed nasal bridge, Periventricula... |
OMIM:270400 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Focal hypointen... |
ORPHA:261537 |
Ogden Syndrome |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Depressed nasal bridge, Underdeveloped... |
OMIM:300855 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Microcephaly, Bulbous nose, Unsteady gait, Seizure, Loss of ambulation, Abnormal repetitive manne... |
OMIM:616682 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Microcephaly, Bulbous... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Focal hypointen... |
ORPHA:261552 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Microcephaly, Abnormal repetitive mannerisms, Wide nasal bridge, Hypoplasia of the corpus callosu... |
ORPHA:508498 |
Arboleda-Tham Syndrome |
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Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Microcephaly, Seizure, Gait imbalance, ... |
OMIM:616268 |
Wolf-Hirschhorn Syndrome |
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Absent septum pellucidum, Microcephaly, Wide nasal bridge, Periventricular cysts, EEG abnormality... |
OMIM:194190 |
Primrose Syndrome |
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Restlessness, Cerebral calcification, Ataxia, Anteverted nares, Depressed nasal bridge, Aggressiv... |
OMIM:259050 |
Arima Syndrome |
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Gray matter heterotopia, Polydipsia, Ataxia |
OMIM:243910 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bilateral tonic-clonic seizure, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge,... |
OMIM:612474 |
Oculocerebrorenal Syndrome Of Lowe |
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Self-injurious behavior, EEG abnormality, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:534 |
Coffin-Siris Syndrome 12 |
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Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Micr... |
OMIM:619325 |
Norrie Disease |
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Narrow nasal bridge, Microcephaly, Self-injurious behavior, Seizure, EEG abnormality, Attention d... |
ORPHA:649 |
Genitopatellar Syndrome |
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Wide nose, Prominent nasal bridge, Periventricular heterotopia, Prominent nose, Microcephaly, Wid... |
OMIM:606170 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration, Aplasia of the nose, Microcephaly |
ORPHA:3186 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Bifid... |
OMIM:236680 |
Fontaine Progeroid Syndrome |
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Depressed nasal bridge, Periventricular heterotopia, Microcephaly, Gray matter heterotopia, Hypop... |
OMIM:612289 |
Orofaciodigital Syndrome Type 14 |
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Periventricular heterotopia, Microcephaly, Bulbous nose, Partial agenesis of the corpus callosum,... |
ORPHA:434179 |
Pagod Syndrome |
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Abnormality of neuronal migration, Microcephaly |
ORPHA:991 |
Lowe Oculocerebrorenal Syndrome |
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Seizure, Abnormal repetitive mannerisms, Periventricular cysts, Aggressive behavior |
OMIM:309000 |
Orofaciodigital Syndrome Xiv |
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Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy... |
OMIM:615948 |
Proteus Syndrome |
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Depressed nasal bridge, Anteverted nares, Gray matter heterotopia, Seizure, Thick nasal alae |
ORPHA:744 |