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 |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Alzheimer Disease 10 |
|
Memory impairment, Dementia |
OMIM:609636 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Gray matter heterotopia, Hyperactivity, Microcephaly, Hemiparesis, Polymicrogyria, Hy... |
OMIM:604317 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... |
ORPHA:280397 |
Foix-Chavany-Marie Syndrome |
|
Gait disturbance, Cognitive impairment |
ORPHA:2048 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Poor eye contact, Periventricular nodular heterotopia, Microcephaly,... |
OMIM:608097 |
Spinocerebellar Degeneration With Slow Eye Movements |
|
Gait disturbance, Cognitive impairment |
OMIM:271322 |
Sub-Cortical Nodular Heterotopia |
|
EEG with focal spikes, Abnormal basal ganglia morphology, Abnormality of neuronal migration, Poly... |
ORPHA:101029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypertonia, Infantile spasms, Myoclonic seizure, Hypoplasia of the corpus callosum, Periventricul... |
OMIM:618677 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Mental deterioration, Abnormality of extrapyramidal motor function, Fasciculati... |
ORPHA:275864 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Agy... |
OMIM:615411 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Cerebral atrophy, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyram... |
ORPHA:204 |
Focal Cortical Dysplasia, Type Ii |
|
Focal cortical dysplasia type II, Focal white matter lesions, Focal impaired awareness seizure, C... |
OMIM:607341 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disor... |
OMIM:618709 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
EEG with changes in voltage, Gray matter heterotopia, Infantile spasms, Motor seizure, Agyria, Sp... |
ORPHA:1084 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia |
ORPHA:85292 |
Hemimegalencephaly |
|
Status epilepticus, Gliosis, Polymicrogyria, EEG with burst suppression, Hemihypsarrhythmia, Pach... |
ORPHA:99802 |
Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum,... |
OMIM:611603 |
Symmetrical Thalamic Calcifications |
|
Hypertonia, Ataxia, EEG abnormality, Cognitive impairment, Cerebral calcification, Microcephaly, ... |
ORPHA:1314 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment |
OMIM:238700 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Cerebral atrophy, Large basal ganglia, EEG with focal epileptifo... |
ORPHA:88616 |
Lissencephaly 1 |
|
Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Seizur... |
OMIM:607432 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... |
OMIM:300425 |
Autism |
|
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... |
OMIM:608636 |
Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Small basal ganglia, Ataxia, Loss of ambulation, Atrophy/Degeneration involving the c... |
ORPHA:225154 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Spasticity, Seizure, Pachygyria, Agenesis... |
OMIM:300067 |
Microlissencephaly |
|
Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical... |
ORPHA:1083 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Mental deterioration, Abnormality of extrapyramidal motor function, Pa... |
ORPHA:100070 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Huntington Disease |
|
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Abnormal cerebral... |
ORPHA:399 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Microcephaly, Attention deficit hyperactivity disorder, Spas... |
OMIM:618185 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Cerebral cortical atrophy, Myoclonus, Babinski sign, Rigidity, Memory impairmen... |
OMIM:600795 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria, Impaired social interactions, Inability to walk |
OMIM:606053 |
Inherited Creutzfeldt-Jakob Disease |
|
EEG with persistent abnormal rhythmic activity, Progressive extrapyramidal muscular rigidity, Clu... |
ORPHA:282166 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Hypsarrhythmia, Seizure |
OMIM:615544 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration, EEG abnormality, Seizure |
ORPHA:2149 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Cerebral cortical atrophy, Poor eye contact, Inability to walk... |
OMIM:617820 |
Unilateral Focal Polymicrogyria |
|
Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Mental deterioration, Intracereb... |
ORPHA:268947 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Oromotor apraxia, Hypoplasia of the corpus callosum, Polymicrogyria, ... |
ORPHA:300573 |
Foxg1 Syndrome |
|
Status epilepticus, Motor stereotypy, Inability to walk, Poor eye contact, Cognitive impairment, ... |
ORPHA:561854 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:604213 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Cognitive impairment, Bilateral tonic-clonic seizure with focal... |
ORPHA:65683 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Periventricular nodular heterotopia, Microcephaly, Spastic paraplegia, Seizure |
OMIM:618572 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Clonic seizure, Microcephaly, Cortical dysplasia, Polymicrogyria, H... |
OMIM:615282 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Fusion of the caudate and putamen, Hypoplasia of the corpus cal... |
OMIM:614039 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Hemiparesis, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Lissence... |
OMIM:610031 |
Band Heterotopia |
|
Gray matter heterotopia, Polymicrogyria, Spasticity, Subcortical band heterotopia, Agenesis of co... |
OMIM:600348 |
Developmental And Epileptic Encephalopathy 98 |
|
Thick corpus callosum, Perisylvian polymicrogyria, Clonic seizure, Poor eye contact, Cerebral atr... |
OMIM:619605 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, EEG abnormality, Hyperactivity, Seizure |
ORPHA:436151 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Mic... |
OMIM:619150 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypertonia, EEG abnormality, Cognitive impairment, Microcephaly, Seizure, Abnormality of neuronal... |
ORPHA:2216 |
Familial Focal Epilepsy With Variable Foci |
|
Focal impaired awareness seizure, Deja vu aura, Cognitive impairment, Focal aware seizure, EEG wi... |
ORPHA:98820 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Bulbous nose, Inability to walk, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hyp... |
OMIM:618492 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, S... |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 58 |
|
Status epilepticus, Motor stereotypy, Inability to walk, Spastic diplegia, Hypsarrhythmia, Seizur... |
OMIM:617830 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Seizure |
OMIM:617787 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Hyperactivity, Microcephaly, Tremor, Seizure, Spastic tetrapa... |
OMIM:619470 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... |
OMIM:619191 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Cortical dysplasia, Hypoplasia of t... |
OMIM:617201 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Poor eye contact, Inability to walk, Microcephaly, Tetrapares... |
OMIM:618276 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Acroparesthesia, Focal aware seizure, EEG with temporal focal spike wave... |
ORPHA:101030 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Cor... |
OMIM:610042 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
EEG with focal spikes, Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioratio... |
ORPHA:163681 |
Lissencephaly 4 |
|
Hypertonia, Babinski sign, Lissencephaly, Primary microcephaly, Seizure, Simplified gyral pattern... |
OMIM:614019 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure |
OMIM:619561 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Cerebral atrophy, Broad nasal tip, Microcephaly, Difficulty walking, Spasticity... |
OMIM:617393 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Ataxia, Inability to walk, Mental deterioration, Spasticity, Hyperactivi... |
ORPHA:168491 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Focal motor seizure, Ataxia, Astrocytosis, Photosensitive myoclonic seizure, Slowed slurred speech |
OMIM:172500 |
Hyperprolinemia, Type I |
|
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Seizure |
OMIM:239500 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Leukoencephalopathy, Gliosis, Bradykinesia, Mental deterioration, Corpus callosum atrophy, Parkin... |
OMIM:221820 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... |
OMIM:618760 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, EEG with sp... |
OMIM:619317 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy, Clonic seizure, Tonic seizure, Microcephaly, Seizure, Progressive microcephaly |
OMIM:620033 |
Leber Congenital Amaurosis 10 |
|
Hyposmia, Seizure |
OMIM:611755 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Bulbous nose, Atonic seizure, Poor eye contact, Focal impaired awareness seizur... |
ORPHA:411986 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... |
OMIM:300495 |
Atypical Rett Syndrome |
|
Inability to walk, Hand apraxia, Infantile spasms, Tongue thrusting, Tremor, Spasticity, Impaired... |
ORPHA:3095 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Microcephaly, Babinski sign, Hypoplasi... |
ORPHA:280763 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Interictal ep... |
ORPHA:1929 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Atten... |
OMIM:608716 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Microcephaly, Truncal ataxia, Unsteady gait, Seizure |
OMIM:614063 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Cerebral atrophy, Broad nasal tip, Microcephaly, Stereotypical hand wringing, Spasticity, Hypsarr... |
ORPHA:500545 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Bulbous nose, Poor eye contact, Inability to walk, Li... |
OMIM:617695 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Seizure |
OMIM:618010 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... |
OMIM:613162 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Astrocytosis, Difficulty walking, Seizure, Megalencephaly, Wide nasal bridge |
OMIM:611087 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Infantile spasms, Myoclonic seizure, Partial agenesis of the corpus callosum, Bilater... |
OMIM:619302 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Delayed social d... |
OMIM:619301 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Hypoplasia of the ... |
ORPHA:178469 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Glioblastoma multiforme, Astrocytoma |
OMIM:619101 |
Cdkl5-Deficiency Disorder |
|
Poor eye contact, Generalized tonic seizure, Infantile spasms, Stereotypical hand wringing, Gait ... |
ORPHA:505652 |
Superficial Siderosis |
|
Ataxia, Limb ataxia, Babinski sign, Unsteady gait, Slurred speech, Dysmetria, Abnormal pyramidal ... |
ORPHA:247245 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Seizure |
ORPHA:1980 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Atypical absence seizure, Ataxia, Cerebral cortical atrophy, Poor eye contact, ... |
OMIM:619428 |
Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Inability to walk, Mental deterioration, Truncal ataxia, T... |
ORPHA:228360 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Periventricul... |
OMIM:619737 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Microcephaly, Myoclonic seizure, Epileptic spasm... |
OMIM:619877 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Clonic seizure, Inability to walk, Cerebral atrophy, Tonic seizure, Stereotypic... |
OMIM:618917 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Infantile spasms, Polymicrogyria, Bilateral tonic-clonic seizure, Sei... |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... |
OMIM:616341 |
Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Hy... |
OMIM:607060 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Dermoid Cysts, Familial Frontonasal |
|
Nocturnal seizures, Nasal congestion, Seizure, Deviated nasal septum, Anosmia, Wide nasal bridge |
OMIM:600679 |
Lissencephaly 5 |
|
Leukoencephalopathy, Gray matter heterotopia, Hypoplasia of the corpus callosum, Type II lissence... |
OMIM:615191 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, EEG with irregular generalized spike and wave complexes, Tremor, Thick nasal alae, Unstea... |
ORPHA:1942 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Seizure, Progressive microcephaly, Impaired ... |
ORPHA:397933 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Polymicrogyria, Schizencephaly, Bilateral tonic-clonic seizure, Spastic tetraplegia, ... |
OMIM:614483 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Bulbous nose, Microcephaly, Limb hypertonia, Polymicrogyria, Hypopla... |
OMIM:616212 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, EEG with focal spike w... |
ORPHA:352582 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Status epilepticus, Hypertonia, Ataxia, Gliosis, Myoclonus, Astrocytosis, Epilepsia partialis con... |
OMIM:203700 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclo... |
OMIM:607136 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Status epilepticus, Cerebral hypoplasia, Gliosis, Microcephaly, Myoclonic seizure, EEG with burst... |
ORPHA:168486 |
Childhood Disintegrative Disorder |
|
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... |
ORPHA:168782 |
Pontocerebellar Hypoplasia Type 2 |
|
Bilateral tonic-clonic seizure with generalized onset, Dysplastic corpus callosum, Lower limb hyp... |
ORPHA:2524 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, EEG abnormality, Gliosis, Cerebral atrophy, Basal ganglia calcification, Myo... |
OMIM:221770 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Bulbous nose, Microcephaly, Spasticity, Seizure, Simplified gyral pattern, Microlissencephaly, Ag... |
OMIM:617090 |
Hsd10 Disease |
|
Ataxia, Focal white matter lesions, Spastic paraparesis, Abnormal social behavior, Microcephaly, ... |
ORPHA:391417 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment, Spastic diplegia, Microcephaly, Abnormal pyramidal... |
OMIM:617008 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Prominent nasal tip, Inability to walk, Hyperkinetic m... |
OMIM:618218 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, EEG abnormality, Microcephaly, Abnormal pyramidal sign, Polymicrogyri... |
OMIM:614833 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Hyposmia, Painless fractures due to injury, Paresthesia, Impaired propriocept... |
OMIM:243000 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Hypoplasia of the corpus callo... |
ORPHA:289266 |
Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Abnormal ... |
ORPHA:98756 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Cerebral atrophy, Progressive language deterior... |
ORPHA:79264 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Leukoencephalopathy, Hyposmia, Intention tremor, Head tremor |
OMIM:613724 |
Huntington Disease-Like 1 |
|
Abnormal basal ganglia morphology, Cerebral cortical atrophy, EEG abnormality, Gliosis, Dysmetria... |
ORPHA:157941 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Microcephaly, Nocturnal... |
OMIM:619725 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Bulbous nose, EEG abnormality, Poor eye contact, Depressed nasal bridge, Hypopl... |
OMIM:613454 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myocloni... |
ORPHA:101039 |
Young-Onset Parkinson Disease |
|
Gait imbalance, Bradykinesia, Hyposmia, Cognitive impairment, Rigidity, Frontal lobe dementia, Tr... |
ORPHA:2828 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morpholo... |
ORPHA:352682 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Inability to walk, Hyperactivity, Microcephaly, Tremor, Spasti... |
OMIM:618718 |
Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Glios... |
ORPHA:411602 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Microcephaly, Hyperkinetic movements, Gait disturbance, Abnormal cerebral white matter m... |
OMIM:300957 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Microcephaly, Gait disturbance, Tremor, Gener... |
ORPHA:544254 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Gliosis, Inability to walk, Infantile spasms, Polymicrogyria, Hypoplasia of the corpus ca... |
ORPHA:79243 |
Bilateral Generalized Polymicrogyria |
|
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... |
ORPHA:208447 |
Supranuclear Palsy, Progressive, 1 |
|
Frontolimbic dementia, Gait imbalance, Akinesia, Gliosis, Bradykinesia, Cerebral atrophy, Retroco... |
OMIM:601104 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination, Microcepha... |
OMIM:309548 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Wide nose, Pr... |
ORPHA:89844 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Cerebral atrophy, Myoclonic seizure, Thin corpus callosum, Wide nasal bridge |
OMIM:619690 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... |
OMIM:608049 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Appendicular spasticity, Cerebr... |
OMIM:620001 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Micr... |
OMIM:619092 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Ataxia, Hypoplasia of the corpus callosum, Short corpus callosum, Co... |
ORPHA:255138 |
Alg11-Cdg |
|
Hypertonia, Ataxia, Gray matter heterotopia, Cerebral atrophy, Opisthotonus, Microcephaly, Limb h... |
ORPHA:280071 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Lissencephaly Due To Lis1 Mutation |
|
Focal impaired awareness seizure, Anterior predominant thick cortex pachygyria, Infantile spasms,... |
ORPHA:95232 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... |
OMIM:604360 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Positive Romberg sign, Distal sensory impairment, Voca... |
OMIM:601152 |
Microhydranencephaly |
|
Poor eye contact, Generalized myoclonic seizure, Microcephaly, Athetosis, Spastic tetraplegia, Pa... |
OMIM:605013 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Microcephaly, Frequent falls, Abnormal cerebral white matt... |
ORPHA:370980 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Semantic dementia, Abnormal social behavior, Myocl... |
ORPHA:1020 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Prominent nasal tip, Hyperactivity, Microcephaly, Cerebral palsy, A... |
ORPHA:352490 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Broad nasal tip, Microcephaly,... |
ORPHA:530983 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact, Seizure |
OMIM:613886 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Status epilepticus, Ataxia, Long nose, Depressed nasal bridge, Infantile spasms, Short nose, Hyps... |
OMIM:300912 |
Fragile X Syndrome |
|
Periventricular heterotopia, Hyperactivity, Poor eye contact, Recurrent hand flapping, Seizure |
OMIM:300624 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Dysplastic corpus callosum, Inability to walk, Focal impaired awareness seizure, Athetosi... |
ORPHA:357058 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hyposmia, Anosmia, Seizure |
OMIM:610628 |
Apnea, Obstructive Sleep |
|
Anosmia, Focal impaired awareness seizure |
OMIM:107650 |
Peroxisome Biogenesis Disorder 9B |
|
Ataxia, Anosmia |
OMIM:614879 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Ataxia, Mental deterioration, Rigidity, Abnormal cerebral white matt... |
OMIM:618476 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Cognitive impairment, Astrocytosis, Lissencephaly, Generalized non-motor (abse... |
ORPHA:258 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Bulbous nose, Recurrent hand flapping, Cerebral atrophy, Infantile spasms, Prominent ... |
OMIM:618916 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Microcephaly, Gait ataxia, Prominent nasal bridge |
OMIM:609425 |
Fraxe Intellectual Disability |
|
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Prominent nasal b... |
ORPHA:100973 |
Bardet-Biedl Syndrome 19 |
|
Hyposmia |
OMIM:615996 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Ataxia, Hyperactivity, Microcephaly, S... |
OMIM:614104 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pronoun reversal, Wide nose... |
OMIM:615032 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primar... |
ORPHA:300570 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnor... |
ORPHA:309854 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Inability to walk, Poor eye contact, Generalized myoclonic seizure, Myoclonus, ... |
OMIM:300672 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... |
OMIM:619179 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Microcephaly, Attention deficit hyperactivity disorder, Seizure, Spastic ataxia |
OMIM:618906 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, Recurrent hand flapping, Hypoplasia of the corpus callosum, Spasticity... |
OMIM:618859 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, EEG with frontal sharp slow waves, ... |
ORPHA:457351 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Recurrent hand flapping, Hyperactivity, Hypoplasia of the corpus callosum, Abnormal cerebral whit... |
OMIM:613192 |
Tetrasomy 18P |
|
Microcephaly, Gait disturbance, Short nose, Seizure, Abnormality of neuronal migration |
ORPHA:3307 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Anosmia, Seizure |
OMIM:244200 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration, Hypoplasia of the corpus callosum, Se... |
OMIM:300049 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
EEG with focal spikes, Motor stereotypy, Cognitive impairment, Increased theta frequency activity... |
ORPHA:98784 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Status epilepticus, Motor stereotypy, Ataxia, Pain insensitivity, Poor eye contact, Inability to ... |
OMIM:300260 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Hyperactivity, Myocl... |
OMIM:617600 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Depressed nasal bridge, Microcephaly, Hypoplasia of the corp... |
DECIPHER:45 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Prominent nasal tip, EEG abnormality, Poor eye contact, Hyperactivity, Microcep... |
OMIM:610883 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Microcephaly, Anteverted nares, Wide nose, Spasticity, Seizure, Thin cor... |
OMIM:619694 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Status epilepticus, Motor stereotypy, Cerebral cortical atrophy, Inability to walk, Cerebral atro... |
OMIM:617802 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration, Abnormal nasal bridge morphology, Seizure |
OMIM:614887 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose |
ORPHA:1135 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... |
ORPHA:453521 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Short nose, Short nasal septum, Anosmia |
OMIM:302950 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Cleft ala nasi, Hypoplasia of the corpus callosum, Seizure, Agenesis of ... |
OMIM:164180 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia, Depressed nasal bridge, Hypoplasia of the corpus callosum, Attention... |
OMIM:618974 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Gait imbalance, Bulbous nose, Gray matter heterotopia, Prominent nasal tip, Ata... |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Febrile seizure outside the age of 3 months to 6 years, Hand-leading gestures, Recurrent hand fla... |
OMIM:617788 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Poor eye contact, Microcephaly, Difficulty walking, Gait ataxia, Spasticity, Un... |
OMIM:617807 |
Christianson Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Truncal ataxia, Abnormality of the nos... |
ORPHA:85278 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Hypertonia, Cerebral cortical atrophy, Gray matter heterotopia, Focal impair... |
OMIM:620024 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Broad nasal tip, Short nose, Speech apraxia, Attention deficit hyperactivity di... |
OMIM:613670 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Bulbous nose, EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Depressed nasal bridge,... |
OMIM:617268 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Clonic seizure, Recurrent hand flapping, Focal impaired awareness seizu... |
OMIM:619580 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Pain insensitivity, Low hanging columella, Attention deficit hyperactivity diso... |
OMIM:618825 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Anosmia, Choanal atresia, Agenesis of corpus callosum, Hyposmia |
OMIM:147950 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Microcephaly, Parkinson... |
OMIM:618877 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Progressive neu... |
OMIM:252650 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Broad nasal tip, Bifid nose, Hypopl... |
OMIM:603671 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tetraparesis, Sho... |
ORPHA:85277 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity, Low hanging columella, Microcephaly, Polymicrogyria, Hypoplasia ... |
OMIM:617751 |
Cockayne Syndrome Type 3 |
|
Basal ganglia calcification, Cognitive impairment, Intention tremor, Narrow nose, Subcortical whi... |
ORPHA:90324 |
Joubert Syndrome |
|
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Anteverted nares, Seizure, Abnormality of neuro... |
ORPHA:475 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Gliosis, Microcephaly, Hyperkinetic movements, Gait disturbance, Tremor, Bilate... |
ORPHA:457240 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Anosmia |
OMIM:266500 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder, Seizure, Wide nasal... |
OMIM:301029 |
Gorlin Syndrome |
|
Cerebral calcification, Abnormality of the sense of smell, Wide nasal bridge |
ORPHA:377 |
Bilateral Perisylvian Polymicrogyria |
|
Paraparesis, Limb hypertonia, Infantile spasms, Oromotor apraxia, Spasticity, Abnormality of neur... |
ORPHA:98889 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration, Microcephaly, Congenital intracerebral calcification |
OMIM:236795 |
Hydrolethalus |
|
Absent septum pellucidum, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Agenes... |
ORPHA:2189 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Bulbous nose, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly,... |
OMIM:619103 |
Lissencephaly, X-Linked, 2 |
|
Gliosis, Lissencephaly, Spasticity, Seizure, Pachygyria, Prominent nasal bridge, Agenesis of corp... |
OMIM:300215 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Neonatal Adrenoleukodystrophy |
|
EEG abnormality, Anteverted nares, Seizure, Abnormality of neuronal migration, Wide nasal bridge |
ORPHA:44 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Cerebral dysmyelination, Absent brainstem auditory responses, Ataxia, Cerebral atrop... |
OMIM:609136 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Pain insensitivity, Hypoesthesia, Impaired vibratory sensation, Hyposmia, Impaired proprioception... |
OMIM:616488 |
Septo-Optic Dysplasia Spectrum |
|
Hemiplegia/hemiparesis, Absent septum pellucidum, Agenesis of corpus callosum, Septo-optic dyspla... |
ORPHA:3157 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Hemiplegia/hemiparesis, Seizure |
ORPHA:65 |
Kallmann Syndrome |
|
Ataxia, Hyposmia, Gait disturbance, Tremor, Paraplegia, Seizure, Anosmia |
ORPHA:478 |
Bardet-Biedl Syndrome 17 |
|
Hyposmia, Poor coordination, Anosmia, Cognitive impairment |
OMIM:615994 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Babinski sign, Abnormal periventricular white matt... |
OMIM:608840 |
Microphthalmia-Brain Atrophy Syndrome |
|
Generalized myoclonic seizure, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Diffuse c... |
ORPHA:77299 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity... |
ORPHA:98794 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Bulbous nose, Cerebral atrophy, Hypoplasia of th... |
OMIM:616900 |
Desmosterolosis |
|
Status epilepticus, Hypertonia, Macrogyria, Depressed nasal bridge, Microcephaly, Rigidity, Agene... |
ORPHA:35107 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of c... |
ORPHA:2512 |
Edinburgh Malformation Syndrome |
|
Hypertonia, Anteverted nares, Short nose, Choanal atresia, Seizure, Abnormality of neuronal migra... |
ORPHA:1895 |
Childhood Absence Epilepsy |
|
Typical absence seizure, Abnormal social behavior, Limb myoclonus, Febrile seizure (within the ag... |
ORPHA:64280 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614838 |
Developmental And Epileptic Encephalopathy 100 |
|
Typical absence seizure, Broad nasal tip, Depressed nasal bridge, Infantile spasms, Polymicrogyri... |
OMIM:619777 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Anosmia, Distal sensory impairment, Hyposmia |
OMIM:608720 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... |
ORPHA:309271 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Microcephaly, Prominent nose, Hyperactivity |
OMIM:615541 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Short nose, Seizur... |
ORPHA:228384 |
Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Cognitive impairment, Hyposmia, Mic... |
ORPHA:2162 |
Refsum Disease |
|
Ataxia, Abnormal pyramidal sign, Hemiplegia/hemiparesis, Anosmia |
ORPHA:773 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, ... |
ORPHA:98795 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Hypertonia, Cerebral cortical atrophy, Microcephaly, Anteverted nares, Seizure, Abnormality of ne... |
ORPHA:2518 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:612702 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Anencephaly, Cortical dysplasia, Type II lissencephaly, Spasticity, Seiz... |
OMIM:615287 |
Galloway-Mowat Syndrome |
|
Hypertonia, EEG abnormality, Hemiplegia/hemiparesis, Cognitive impairment, Microcephaly, Seizure,... |
ORPHA:2065 |
Rett Syndrome |
|
Cerebral cortical atrophy, EEG abnormality, Gait apraxia, Truncal ataxia, Stereotypical hand wrin... |
OMIM:312750 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... |
ORPHA:309263 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Depressed nasal bridge, Anosmia |
OMIM:113480 |
Hypomelanosis Of Ito |
|
Microcephaly, Gray matter heterotopia, Cerebral atrophy, Seizure |
OMIM:300337 |
Pick Disease Of Brain |
|
Motor stereotypy, Gliosis, Frontotemporal dementia |
OMIM:172700 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Focal impaired awareness seizure, Stereotypical hand wringing, Short nose, Bilateral ... |
OMIM:619854 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy, Low hanging columella, Microcephaly, Polymicrogyria, Hypoplasia of the corpus c... |
ORPHA:500159 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell, Microcephaly |
ORPHA:3201 |
Angelman Syndrome |
|
Status epilepticus, Atypical absence seizure, Cerebral dysmyelination, Atonic seizure, Cerebral c... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Poor coordination |
OMIM:619717 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
Kohlschutter-Tonz Syndrome-Like |
|
Status epilepticus, Ataxia, Inability to walk, Tremor, Focal myoclonic seizure, Spasticity, Hypsa... |
OMIM:619229 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy, Anteverted nares, Wide nose, Recurrent bronchitis, Attention ... |
OMIM:619293 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Broad nasal tip, Bilateral tonic-clonic seizure, Generalized-onset seizure, Gen... |
OMIM:615637 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
EEG abnormality, Broad nasal tip, Recurrent upper respiratory tract infections, Oromotor apraxia,... |
ORPHA:391372 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Motor stereotypy, Dysmetria, Microcephaly, Babinski sign, Truncal ata... |
OMIM:619121 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hair-pulling, Hyperactivity, Depressed nasal bridge, Infantile spas... |
ORPHA:447997 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:615516 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Seizure, Colpocephaly, Agenesis... |
OMIM:619955 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping, Seizure |
OMIM:620021 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... |
ORPHA:488627 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Prominent nose, Unsteady gait, Wide nasal bridge |
OMIM:618205 |
Hyperostosis Cranialis Interna |
|
Anosmia, Hyposmia |
OMIM:144755 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
Rett Syndrome |
|
Motor stereotypy, EEG abnormality, Bradykinesia, Inability to walk, Stereotypical hand wringing, ... |
ORPHA:778 |
Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Hyperactivity, Seizure, Impaired pain sensation, Wide nasal br... |
OMIM:182290 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Broad-based gait, Microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:300352 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Kallmann Syndrome With Spastic Paraplegia |
|
Spastic paraplegia, Ataxia, Anosmia |
OMIM:308750 |
Meningioma |
|
Ataxia, Cognitive impairment, Abnormality of the sense of smell, Hemiparesis, Memory impairment, ... |
ORPHA:2495 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Decerebr... |
ORPHA:309256 |
Freesia Flowers, Inability To Smell |
|
Specific anosmia |
OMIM:229250 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Anosmia |
OMIM:616030 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
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 |
|
Microcephaly, Bulbous nose, Choanal atresia, Anosmia |
ORPHA:2316 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Hyperactivity, Microcephaly, Tremor, Attention deficit hyperactivity disorder, ... |
OMIM:618342 |
Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Anteverted nares, Seizure, Abnormality of neuronal migration, Prominent nasal bridge, Apl... |
ORPHA:2318 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Microcephaly, Seizure |
ORPHA:228402 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Type II lissencep... |
ORPHA:370959 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Depressed nasal bridge, Seizure, Cognitive impairment |
ORPHA:93274 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Seizure |
OMIM:618504 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Poor eye contact, Recurrent hand flapping, Hyperactivity, Attention deficit hyp... |
ORPHA:449291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Low hanging columella, Gait distur... |
OMIM:300986 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Ataxia, Anosmia, Hyposmia |
OMIM:308700 |
Vici Syndrome |
|
Gray matter heterotopia, Cerebral cortical atrophy, EEG abnormality, Depressed nasal tip, Seizure... |
ORPHA:1493 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Cessation of ... |
ORPHA:411511 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Cognitive impairment, Microcephaly, Paraplegia, Seizure |
ORPHA:927 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Walker-Warburg Syndrome |
|
Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria... |
ORPHA:899 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Microcephaly, Pyriform aperture stenosis, Choanal atresia, Midna... |
OMIM:147250 |
Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Hypoesthesia, Decreased nerve co... |
OMIM:277900 |
Man1B1-Cdg |
|
Broad-based gait, Periventricular heterotopia, Resting tremor, Underdeveloped nasolabial fold, Wi... |
ORPHA:397941 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Depressed nasal bridge, Tremor, Seizure, Agenesis of corpus callosum |
ORPHA:238750 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Gray matter heterotopia, Lissencephaly, Seizure, Simplified gyral pattern, Colpocep... |
OMIM:615219 |
16P13.11 Microdeletion Syndrome |
|
Hypertonia, EEG abnormality, Depressed nasal bridge, Microcephaly, Short nose, Anteverted nares, ... |
ORPHA:261236 |
Johnson Neuroectodermal Syndrome |
|
Microcephaly, Anosmia, Choanal stenosis |
OMIM:147770 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Bulbous nose, Cerebral cortical atrophy, Ataxia, Dysmetria, Abnormal social behavior, Intention t... |
ORPHA:314647 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal basal ganglia morphology, Ataxia, Hyposmia, Encephalomalacia, Hemiparesis, Abnormal cere... |
ORPHA:68 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Difficulty walking, Seizure, Wide nasal ridge, Aplasia/Hypoplasia of the... |
ORPHA:531151 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Bulbous nose, Inability to walk, Recurrent hand flapping, Low hanging columella, Long... |
ORPHA:352577 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Depressed nasal bridge, Microcephaly, Gait disturbance, Short ... |
ORPHA:819 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impa... |
OMIM:607485 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Frontotemporal dementia, Spasticity |
OMIM:612069 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia |
ORPHA:91412 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Broad nasal tip, Depressed nasal bridge, Tics, Attention deficit hyperactivity ... |
OMIM:617808 |
8Q21.11 Microdeletion Syndrome |
|
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of th... |
ORPHA:284160 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Prominent nasal tip, EEG with spike-wave complexes, Po... |
ORPHA:522077 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Broad nasal tip, Microcephaly, Seizure |
ORPHA:3306 |
D-Glyceric Aciduria |
|
Status epilepticus, Cerebral cortical atrophy, Opisthotonus, Focal clonic seizure, Myoclonus, Mic... |
OMIM:220120 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis, Bilateral tonic-clonic seizure, Focal-onset seizure,... |
OMIM:619435 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Anosmia |
OMIM:614837 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Generalized myoclonic seizure, Depressed nasal bridge, Cerebral white m... |
ORPHA:435638 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Broad-based gait, Bulbous nose, Poor eye contact, Microcephaly, Tongue thrustin... |
OMIM:606232 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Infantile spasms, Epileptic spasm... |
OMIM:247200 |
Galloway-Mowat Syndrome 6 |
|
Anteverted nares, Microcephaly, Motor stereotypy, Seizure |
OMIM:618347 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Cerebral atrophy, Depressed nasal bridge, Infantile spasms, Hypoplasia o... |
OMIM:618797 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, EEG abnormality, Hemiparesis, Seizure |
ORPHA:2481 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Bulbous nose, Depressed nasal bridge, Microcephaly, Short nose, Seizure, Agenes... |
ORPHA:261144 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure, Anteverted nares, Secondary m... |
OMIM:616351 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormality of the nares, Short nose, Anosmia |
ORPHA:1295 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Polymicrogyria, Hypoplasia of the corpus callosum, Spasticity, Simpl... |
ORPHA:468631 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Depressed nasal ridge |
OMIM:601016 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Hypertonia, Bulbous nose, Periventricular nodular heterotopia, Microcephaly, Depressed nasal brid... |
OMIM:619188 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Depressed nasal ridge, Bifid nasal tip, Short nose, Agenesis of corpu... |
OMIM:616854 |
Poretti-Boltshauser Syndrome |
|
Oculomotor apraxia, Gray matter heterotopia, Abnormal periventricular white matter morphology |
OMIM:615960 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Bulbous nose, Seizure, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:613174 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebr... |
ORPHA:391307 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Abnormality of neuronal migratio... |
ORPHA:75857 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Hypoplasia of the corpus callosum, Short nasal bridge, Attention deficit hyperactivity disorder, ... |
ORPHA:401777 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Bulbous nose, Pain insensitivity, Depressed nasal bridge, Microcephaly, Tremor,... |
OMIM:617061 |
Congenital Hypothyroidism |
|
Paresthesia, Anosmia, Depressed nasal ridge |
ORPHA:442 |
Chiari Malformation Type Ii |
|
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Opisthotonus |
OMIM:207950 |
Periventricular Nodular Heterotopia 9 |
|
Broad-based gait, Gray matter heterotopia, Periventricular nodular heterotopia, Microcephaly, Pol... |
OMIM:618918 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Gait disturbance, Tremor, Anteverted nares, Seizure, Abnormality of neuronal migration, O... |
ORPHA:1454 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Poor eye contact, Recurrent hand flapping, Cerebellar gliosis, Tip-toe gait, Abnormal pyr... |
ORPHA:3008 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Thin corpus cal... |
OMIM:619775 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Seizure |
ORPHA:10 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Bulbous nose, Dysplastic corpus callosum, Non-convulsive status epilepticu... |
ORPHA:544488 |
Coffin-Lowry Syndrome |
|
Hypertonia, Cerebral cortical atrophy, Depressed nasal bridge, Microcephaly, Progressive spastici... |
ORPHA:192 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Seizure |
OMIM:617622 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Depressed nasal bridge, Short nose, Lissencephaly, Seizure, Anteverted n... |
OMIM:617822 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Hyperactivity, Depressed nasal bridge, Microcephaly, Seizure, Anteverted nares,... |
OMIM:617796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Long nose, Gait ataxia, Prominent nose, Spasticity, Seizure |
OMIM:300486 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Seiz... |
ORPHA:261197 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Motor stereotypy, Microcephaly, Gait ataxia, Incoordination, Impaired pain sens... |
OMIM:616579 |
White-Sutton Syndrome |
|
Overfriendliness, Motor stereotypy, Hyperactivity, Cerebral atrophy, Focal impaired awareness sei... |
OMIM:616364 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Wide nasal bridge, EEG with generalized slow activity, Seizure |
ORPHA:397612 |
Choreoacanthocytosis |
|
Frontal cortical atrophy, Mental deterioration, Chorea, Falls, Slurred speech, Bradyphrenia, Hype... |
ORPHA:2388 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:614897 |
8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Microcephaly, Anosmia, Seizure |
ORPHA:251066 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Seizure, Cognitive impairment |
ORPHA:2063 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Cerebral atrophy, Depressed nasal bridge, Microcephaly, Babinski si... |
OMIM:615802 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Ataxia, Colpocephaly, Depressed nasal bridge, Microcephaly, Cerebral... |
OMIM:619833 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Depressed nasal ridge, Microcephaly, Wide nose, Attention deficit hyperactivity... |
ORPHA:1727 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Recurrent hand flapping, Broad nasal tip, Microcephaly, Depressed nasal bridge, Trem... |
OMIM:619680 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Gray matter heterotopia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corp... |
ORPHA:314679 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Cataplexy, Generalized tonic seizure, Hypopl... |
ORPHA:496641 |
Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Ataxia, Opisthotonus, Cortical dysplasia, Polymicrogyria, Partial agenesis of the co... |
ORPHA:1136 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Spasticity, Seizure, Anteverted nares, Wide nasal bridge |
OMIM:618810 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Gray matter heterotopia, Seizure |
ORPHA:2655 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Focal impaired awareness seizure, Depressed nasal bridge, Infantile ... |
OMIM:618929 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Anosmia |
OMIM:618841 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Hyperactivity, Broad nasal tip, Short nose, Seizure, Anteverted nares, Wide nas... |
OMIM:615873 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Microcephaly, Seizure, Wide nasal bridge |
ORPHA:2479 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Oculomotor apraxia |
OMIM:617563 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Cerebral atrophy, Generalized tonic seizure, Depressed nasal bridge, Mi... |
OMIM:616393 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hypertonia, Motor stereotypy, Hyperactivity, Microcephaly, Difficulty walking, ... |
OMIM:123450 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Cavum septum pellucidum, Abnormal cerebral white matter morphology, Lat... |
ORPHA:457279 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Broad nasal tip, Gait disturbance, Tremor, Seizure, Abnormality of neuronal migration, Pr... |
ORPHA:2754 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Seizure |
ORPHA:313892 |
Nmda Receptor Encephalitis |
|
Status epilepticus, Motor stereotypy, Opisthotonus, Myoclonus, No social interaction, Rigidity, M... |
ORPHA:217253 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Bulbous nose, Ataxia, Poor eye contact, Recurrent hand flapping, Depressed nasal ridge, Hypoplasi... |
OMIM:156200 |
Campomelic Dysplasia |
|
Abnormality of the sense of smell, Depressed nasal bridge |
ORPHA:140 |
Oculocerebrodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions, Depressed nasal bridge, Broad columella, ... |
ORPHA:557003 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Convex nasal ridge, Hyperactivity, Depressed nasal bridge, Wide nose, Thick nas... |
OMIM:618027 |
Niemann-Pick Disease Type C |
|
Status epilepticus, Ataxia, Cataplexy, Frontal cortical atrophy, Abnormal social behavior, Mental... |
ORPHA:646 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:228300 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Seizure, Abnormality o... |
ORPHA:157 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Anosmia |
OMIM:614841 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Spasticity, Seizure |
OMIM:619423 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Bulbous nose, Basal ganglia cysts, Microcephaly, Polymicrogyria, Nasal congestion, Seizure, Abnor... |
OMIM:608836 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Microcephaly, Dysplastic corpus callosum, Prominent nasal bridge |
OMIM:604273 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Long nose, Microcephaly, Depressed nasal bridge, Stereotypical hand wringing, Generalized non-mot... |
OMIM:612337 |
Distal Xq28 Microduplication Syndrome |
|
Poor eye contact, Stereotypical body rocking, Tip-toe gait, Broad nasal tip, Microcephaly, Recurr... |
ORPHA:293939 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Infantile spasms, Decreased amp... |
OMIM:618733 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bulbous nose, Ataxia, Isometric tremor, Depressed nasal tip, Infantile spasms, Falls, Short nose,... |
OMIM:619475 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Hyposmia, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking |
OMIM:618653 |
White-Sutton Syndrome |
|
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, Focal impaired awareness seizure, H... |
ORPHA:468678 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping, Broad nasal tip, Microc... |
OMIM:615485 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Status epilepticus, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618569 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis |
OMIM:244400 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Kapur-Toriello Syndrome |
|
Bulbous nose, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Broad-based gait, Prominent nasal tip, Stereotypical body rocking, Depressed na... |
ORPHA:513456 |
Alazami Syndrome |
|
Motor stereotypy, Wide nose, Stereotypical hand wringing, Seizure |
ORPHA:319671 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly... |
OMIM:614643 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Myoclonus, Limb hypertonia, Babinski si... |
OMIM:608643 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Seizure, Dementia |
OMIM:607625 |
Neu-Laxova Syndrome |
|
Depressed nasal ridge, Opisthotonus, Cerebral calcification, Macrogyria, Microcephaly, Abnormal c... |
ORPHA:2671 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Depressed nasal bridge, Short nose, Attention deficit hyperact... |
OMIM:619005 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Tremor, Short nose, Gait ataxia, Primary microcephaly, Attention deficit hypera... |
ORPHA:476126 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Poor eye contact, Cerebral atrophy, Depressed nasal bridge, Microcephaly, Unila... |
OMIM:301030 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Depressed nasal bridge, Microcephaly, Broad columella, Attention deficit hypera... |
ORPHA:1001 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Seizure, Abnormality o... |
ORPHA:228308 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Cerebral calcification, Microcephaly, Polymicrogyria, Seizure |
OMIM:617397 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia, Focal-onset seizure |
ORPHA:98892 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Sim... |
ORPHA:464311 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia, Prominent nasal tip, Convex nasal ridge, Depressed nasal bridge, Att... |
OMIM:618870 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy, Hypertonia, EEG abnormality, Poor eye contact, Microcephaly, Infantile spasms, ... |
OMIM:301044 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Depressed nasal ridge, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of ... |
ORPHA:2211 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, Bulbous nose, Inability to walk, Opisthotonus, Long nose, Microceph... |
ORPHA:508533 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Seizure |
ORPHA:26791 |
Pitt-Hopkins Syndrome |
|
Flared nostrils, Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, ... |
OMIM:610954 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum,... |
OMIM:605039 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia, Seizure |
ORPHA:529965 |
Holoprosencephaly 14 |
|
Periventricular heterotopia, EEG abnormality, Gray matter heterotopia, Microcephaly, Partial agen... |
OMIM:619895 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Flared nostrils, Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Ataxia, Poor gross mo... |
OMIM:614756 |
Prader-Willi Syndrome Due To Translocation |
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Motor stereotypy, Cerebral cortical atrophy, Abnormal social behavior, Broad nasal tip, Microceph... |
ORPHA:177907 |
7Q11.23 Microduplication Syndrome |
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Motor stereotypy, Hyperactivity, Dysmetria, Abnormality of the columella, Broad nasal tip, Unstea... |
ORPHA:96121 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617044 |
Moebius Syndrome |
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Abnormality of the sense of smell |
ORPHA:570 |
Ichthyosis And Male Hypogonadism |
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Anosmia, Seizure |
OMIM:308200 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Loss of ambulation, Cerebral cortical atrophy, Gray matter heterotopia, Polymicrogyria, Frequent ... |
OMIM:214100 |
Congenital Disorder Of Glycosylation, Type Iia |
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Motor stereotypy, Hypertonia, Low hanging columella, Microcephaly, Unsteady gait, Seizure, Promin... |
OMIM:212066 |
Kallmann Syndrome-Heart Disease Syndrome |
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Total anosmia, Partial anosmia |
ORPHA:2326 |
Dilated Cardiomyopathy With Ataxia |
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Ataxia, Action tremor, Repetitive compulsive behavior, Seizure, Lower limb spasticity, Bilateral ... |
ORPHA:66634 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Single naris, Absent nares, Anosmia, Hyposmia |
ORPHA:2250 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Bulbous nose, Hyperactivity, Stereotypical body rocking, Microcephaly, Tongue thrusting, Seizure,... |
ORPHA:261323 |
Van Maldergem Syndrome 1 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, ... |
OMIM:601390 |
Nijmegen Breakage Syndrome |
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Convex nasal ridge, Glioma, Mental deterioration, Depressed nasal bridge, Microcephaly, Prominent... |
ORPHA:647 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Motor stereotypy, Bulbous nose, Hyperactivity, Tonic seizure, Low hanging columella, Microcephaly... |
OMIM:619512 |
Waardenburg Syndrome, Type 2E |
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Hypertonia, Anosmia |
OMIM:611584 |
Leber Congenital Amaurosis 2 |
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Eye poking |
OMIM:204100 |
3C Syndrome |
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Abnormality of neuronal migration, Depressed nasal bridge, Short nose, Wide nasal bridge |
ORPHA:7 |
Wiedemann-Steiner Syndrome |
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Motor stereotypy, Hyperactivity, Microcephaly, Short nose, Psychomotor deterioration, Seizure, Wi... |
ORPHA:319182 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Pleomorphic xanthoastrocytoma, Astrocytoma, Ependymoma, Glioblastoma mul... |
OMIM:276300 |
Thanatophoric Dysplasia Type 1 |
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Depressed nasal bridge, Gray matter heterotopia, Seizure |
ORPHA:1860 |
Koolen-De Vries Syndrome |
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Bulbous nose, Gray matter heterotopia, Hyperactivity, Microcephaly, Hypoplasia of the corpus call... |
OMIM:610443 |
Leber Congenital Amaurosis 1 |
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Eye poking |
OMIM:204000 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria,... |
OMIM:618820 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Motor stereotypy, Broad-based gait, Ataxia, Pain insensitivity, Dysmetria, Broad nasal tip, Micro... |
OMIM:617330 |
Opitz-Kaveggia Syndrome |
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Gray matter heterotopia, Partial agenesis of the corpus callosum, Prominent nose, Choanal atresia... |
OMIM:305450 |