Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... |
ORPHA:101071 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Cere... |
OMIM:604213 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Co... |
ORPHA:300573 |
Lissencephaly 4 |
|
Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary mi... |
OMIM:614019 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Seizure, Lateral ventricle dilatation, Polymicrogyri... |
OMIM:600348 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Seizure, Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Primary microcephaly, Cere... |
OMIM:618266 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callosum, Myoclo... |
OMIM:619517 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Infantile spasms, Tonic seizure, Microcephaly, Focal motor seizure, Myoclonic seizure, Lateral ve... |
OMIM:618890 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Progressive leukoencephalo... |
OMIM:615889 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Seizure, Abnormal cerebral... |
ORPHA:500166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Infantile spa... |
OMIM:610031 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... |
OMIM:609637 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Infantile spasms, Microcephaly, Seizure, Lateral ven... |
ORPHA:79326 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... |
OMIM:221770 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Focal-... |
ORPHA:208447 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, ... |
ORPHA:599373 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Seizure, Cereb... |
OMIM:608716 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Seizure, Lateral ventricle d... |
OMIM:613443 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the ventral p... |
OMIM:607596 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Partial agenesi... |
ORPHA:79243 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Cerebellar vermis hypoplasia, Simplified gyral pattern, Seizure, Lateral ventric... |
ORPHA:284417 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... |
OMIM:620317 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Infantile spasms |
ORPHA:324422 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Microcephaly, Polymicrogyria, Seizu... |
OMIM:611603 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Seizur... |
ORPHA:488635 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... |
ORPHA:171703 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Microcephaly, Myoclonic seizure, Seizure, Lateral ventricle dilat... |
OMIM:615716 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Seizure, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Multifocal ce... |
OMIM:600721 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesi... |
OMIM:618736 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Seizure, Primary microcephaly |
OMIM:618010 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Seizure, Lateral ventricle ... |
OMIM:617751 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Seizure, Hypoplasia of the corpus callosum, Abnormal cerebral ... |
ORPHA:101029 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly |
OMIM:619278 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly |
OMIM:619501 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Seizure, Lateral ventricle d... |
OMIM:614219 |
Craniosynostosis 6 |
|
Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of... |
OMIM:616602 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hydrocephalus, Partial age... |
OMIM:619302 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... |
OMIM:616540 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Bilateral tonic-clonic seizure, Cerebellar vermis hypoplasia, I... |
ORPHA:171680 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Seizure, Colpocephaly, Pachygyria |
OMIM:614870 |
Pontocerebellar Hypoplasia, Type 13 |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... |
OMIM:618606 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Seizure, Lissence... |
ORPHA:2185 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Generalized-onset seizure, Infantile spasms, Focal-onset seizure, ... |
ORPHA:2148 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Impulsivity, Seizure, Lateral ventricle dilatation, Pontocere... |
OMIM:617854 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, Si... |
OMIM:619301 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly |
OMIM:618276 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... |
ORPHA:255182 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Generalized-onset seizure, Agenesis of corpus callosum |
ORPHA:459074 |
X-Linked Intellectual Disability, Wilson Type |
|
Seizure, Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... |
ORPHA:565624 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Seizure, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:617090 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Seizure, Cerebellar hypopla... |
OMIM:304100 |
Cach Syndrome |
|
Cerebellar atrophy, Microcephaly, Cerebellar vermis atrophy, Cerebral atrophy, Seizure, Lateral v... |
ORPHA:135 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Microcephaly, Seizure, Lateral ventricle dilatation, Myoclonus, Cerebel... |
ORPHA:3078 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral v... |
OMIM:608629 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Microcephaly, Cerebral cortical atrophy, Status epilepticus, Agen... |
OMIM:620200 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Generalized myoclonic seizure, Agenesis of corpus callosum |
ORPHA:85334 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Bilateral tonic-clon... |
ORPHA:488627 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Agenesis of corpus callosum, ... |
ORPHA:85179 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasi... |
OMIM:617397 |
Paganini-Miozzo Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation |
OMIM:301025 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal cerebellum morphology, Lateral ventricle dilatation |
OMIM:256850 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Cerebella... |
OMIM:618291 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:610015 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... |
OMIM:615771 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized o... |
ORPHA:2524 |
Gaba-Transaminase Deficiency |
|
Seizure, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... |
OMIM:613154 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... |
OMIM:607485 |
Malan Overgrowth Syndrome |
|
Seizure, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:420179 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ventriculomegaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Seiz... |
OMIM:613402 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Infantile spasms, Microcephaly, Cortical dyspl... |
ORPHA:356961 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Status epilepticus, Myoclo... |
OMIM:619847 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Short attention span, Cerebellar vermis hypoplasia, Focal-onset seizure, Partial agenesis of the ... |
ORPHA:300570 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Reduced cerebral white matter volume, Tonic seizure, Lateral ventricle dilatation, Parietal corti... |
OMIM:620075 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Seizure, Lissencephaly, Polymicrogy... |
OMIM:614833 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Infantile spasms, Microcephaly, Seizure, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria |
OMIM:618731 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Multifocal seizures, Cerebellar vermis hypoplasia, ... |
ORPHA:572798 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus, Agenesis of co... |
OMIM:605899 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Microcephaly, Hydrocephalus, Cerebral atrophy, Seizure, Colpocephaly, Hypopla... |
OMIM:616034 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Seizure, Lateral ventri... |
ORPHA:544488 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:614105 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Seizur... |
ORPHA:263487 |
Glutaric Acidemia I |
|
Seizure, Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Seizure, Cerebellar h... |
OMIM:616900 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Seizure, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Hyperintensity of cerebral white matt... |
ORPHA:2822 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Myoclon... |
ORPHA:168486 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Developmental And Epileptic Encephalopathy 31B |
|
Multifocal seizures, Reduced cerebral white matter volume, Infantile spasms, Clonic seizure, Myoc... |
OMIM:620352 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Seizure, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, ... |
ORPHA:293725 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Seizure, C... |
OMIM:620156 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Tonic seizure, Microcephaly, Seizure, Lateral ventricle dilatation, Hypoplasi... |
OMIM:618367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pon... |
OMIM:613153 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Seizure, Agenesis ... |
OMIM:617542 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Periventricular cysts, Seizure, Cerebellar hypoplasia, Hypoplasia of the corpus... |
ORPHA:255138 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Hydrocephalus, Head-banging, Chiari type I malformation, Self-injurious beh... |
OMIM:619575 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ventriculomegaly, Microcephaly, Generalized clonic seizure, Focal-onset sei... |
OMIM:619229 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... |
OMIM:618914 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Microcephaly, Cerebral atrophy, Seizure, Agenesis of corpus callosum |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... |
OMIM:301107 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Absent septum pellucidum... |
ORPHA:397715 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Seizure, Holoprosencephaly, Agenesi... |
ORPHA:2182 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyral pattern, Seizur... |
OMIM:619470 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis o... |
OMIM:218670 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Bilateral tonic-clonic seizure, Cerebellar vermis hypop... |
OMIM:617281 |
Aicardi Syndrome |
|
Epileptic spasm, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Infantile spasms, Dila... |
OMIM:304050 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi... |
OMIM:612863 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat... |
ORPHA:98818 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Seizure, Lateral ventricle dilatation, Abnormal cerebral white matter morphology, Cavum septum pe... |
ORPHA:457279 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Epileptic spasm, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Seizure, Myoclon... |
OMIM:617669 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... |
ORPHA:1929 |
Distal Deletion 10Q |
|
Microcephaly, Aggressive behavior, Seizure, Lateral ventricle dilatation, Cerebellar hypoplasia, ... |
ORPHA:96148 |
Autosomal Recessive Cutis Laxa Type 2A |
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Dilated fourth ventricle, Thick cerebral cortex, Generalized-onset seizure, Cerebellar vermis hyp... |
ORPHA:357058 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Hyperactivity, Aggressive behavior, Microcephaly, Seizure, Agenesis of corpus callosum, Ventricul... |
OMIM:615286 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Congenital Disorder Of Glycosylation, Type Iig |
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Cerebellar atrophy, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Lateral ventric... |
OMIM:611209 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Seizure, Colp... |
OMIM:615219 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Generalized-onset seizure, Dysplastic corpus callosum, Seizure, Secondary microcephaly, Periventr... |
OMIM:619737 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Weaver Syndrome |
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Bilateral tonic-clonic seizure, Absent septum pellucidum, Generalized non-motor (absence) seizure... |
OMIM:277590 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
Aicardi-Goutieres Syndrome 9 |
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Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Ventriculomegaly, Microcephaly, Hydrocephalus, Seizure, Cerebellar hypoplasia, Hydranencephaly, P... |
OMIM:225790 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus c... |
ORPHA:464738 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Schizencephaly, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsi... |
OMIM:604317 |
Craniofacial Dyssynostosis With Short Stature |
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Hydrocephalus, Chiari type I malformation, Seizure, Hypoplasia of the corpus callosum, Agenesis o... |
OMIM:218350 |
Bilateral Frontoparietal Polymicrogyria |
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Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ... |
ORPHA:101070 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... |
ORPHA:2382 |
Mosaic Trisomy 1 |
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Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Juvenile Huntington Disease |
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Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Cerebellar vermis atrophy, Abn... |
ORPHA:248111 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia o... |
OMIM:619479 |
3-Methylglutaconic Aciduria, Type Iv |
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Cerebellar dysplasia |
OMIM:250951 |
Bainbridge-Ropers Syndrome |
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Microcephaly, Seizure, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Inferior ... |
OMIM:615485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Seizure, Periventricular white matter hyperintensities, Attention def... |
OMIM:301008 |
Hydrocephalus, Congenital, X-Linked |
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Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Aggressive behavio... |
ORPHA:485350 |
Osteopetrosis, Autosomal Recessive 7 |
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Lateral ventricle dilatation, Hydrocephalus, Hypocalcemic seizures |
OMIM:612301 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum, Seizure, Cerebellar hypoplasia |
OMIM:618810 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... |
OMIM:618090 |
Microcephaly 26, Primary, Autosomal Dominant |
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Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Seizure, Hypoplasia of the co... |
OMIM:619179 |
Hydrolethalus Syndrome 2 |
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Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... |
OMIM:619869 |
Congenital Disorder Of Glycosylation, Type Iim |
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Epileptic spasm, Microcephaly, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Cerebella... |
OMIM:300896 |
Poretti-Boltshauser Syndrome |
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Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Intellectual Developmental Disorder, X-Linked 30 |
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Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcepha... |
OMIM:619827 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Aqueductal stenosis, Seizure, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Noonan Syndrome 14 |
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Lateral ventricle dilatation |
OMIM:619745 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Dysplastic corpus callosum, Seizure, Secondary microcephaly |
OMIM:619423 |
Keppen-Lubinsky Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Seizure, Lateral ventricle dilatat... |
OMIM:614098 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Absent septum pellucidum, Microcephaly, Abnormal cerebral white matter morphology, Lateral ventri... |
OMIM:300868 |
Halperin-Birk Syndrome |
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Generalized-onset seizure, Focal-onset seizure, Colpocephaly, Agenesis of corpus callosum, Ventri... |
OMIM:618651 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Weiss-Kruszka Syndrome |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618619 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Myoclonic seizure, Abnormal repetitive mannerisms, Hyperactivity, Typical absence seizure, Seizur... |
ORPHA:168491 |
Choreoacanthocytosis |
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Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... |
ORPHA:2388 |
Prader-Willi Syndrome Due To Translocation |
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Microcephaly, Head-banging, Seizure, Lateral ventricle dilatation, Compulsive behaviors, Attentio... |
ORPHA:177907 |
Succinic Semialdehyde Dehydrogenase Deficiency |
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Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generaliz... |
OMIM:271980 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... |
ORPHA:370022 |
Crome Syndrome |
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Cerebellar dysplasia |
OMIM:218900 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Microcephaly, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly, Perivent... |
OMIM:619833 |
Fanconi Anemia, Complementation Group I |
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Absent septum pellucidum, Microcephaly, Colpocephaly, Chiari malformation, Agenesis of corpus cal... |
OMIM:609053 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Partial agenesis of the corpus callosum, Seizure, Colpocephaly, Secondary microcephaly, Hypoplasi... |
OMIM:620113 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Fg Syndrome 3 |
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Chiari type I malformation, Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:615181 |
Gabriele-De Vries Syndrome |
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Cortical dysplasia, Lateral ventricle dilatation |
OMIM:617557 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Pachygyria |
OMIM:263520 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Cln5 Disease |
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Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Corpus callosu... |
ORPHA:228360 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... |
OMIM:615873 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:613155 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of the corpus c... |
OMIM:618569 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... |
OMIM:614924 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Ventriculomegaly, Generalized-onset seizure, Dysplastic corpus callosum, Simplified gyral pattern... |
ORPHA:500150 |
Spondyloenchondrodysplasia |
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Abnormal lateral ventricle morphology, Cerebral calcification, Seizure, Abnormal periventricular ... |
ORPHA:1855 |
16Q24.3 Microdeletion Syndrome |
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Seizure, Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:261250 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morphology, Aggre... |
ORPHA:163681 |
47,Xyy Syndrome |
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Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Hydrocephalus, Seizure, Att... |
ORPHA:8 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... |
OMIM:615287 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... |
OMIM:617260 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Alobar holoprosencephaly, Microcephaly, Seizure, Colpocephaly, Agenesis of... |
OMIM:301043 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Epileptic spasm, Infantile spasms, Microcephaly, Aggressive behavior, Hydrocephalus, Polymicrogyr... |
OMIM:607872 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... |
ORPHA:314679 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Absent septum pellucidum, Microcephaly, Hydrocephalus, Seizure, Colpocephaly, Agenesis of corpus ... |
OMIM:309801 |
6Q Terminal Deletion Syndrome |
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Abnormal cerebral white matter morphology, Colpocephaly, Seizure, Cerebellar hypoplasia, Hypoplas... |
ORPHA:75857 |
Kabuki Syndrome 1 |
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Bilateral tonic-clonic seizure with focal onset, Microcephaly, Hydrocephalus, Seizure, Lateral ve... |
OMIM:147920 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Cerebellar atrophy, Generalized-onset seizure, Macrogyria, Seizure, Colpocephaly, Cerebellar hypo... |
OMIM:614866 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Microcephaly, Aqueductal stenosis, Hypoplasia of t... |
OMIM:619512 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... |
OMIM:618820 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Seizure, Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly |
OMIM:620083 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Enlarged cerebellum, Hypoplasia of the corpus cal... |
ORPHA:477993 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261537 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Seizure, Hypoplasia of the corpus ... |
ORPHA:457284 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcephaly |
OMIM:618460 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261552 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce... |
OMIM:610217 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Microcephaly, Aggressive behavior, P... |
OMIM:270400 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Seizure, Status epilepticu... |
OMIM:617140 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Seizure, Lateral ventricle d... |
OMIM:619534 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... |
ORPHA:1934 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Partial absence of cerebellar vermis, Cerebellar hypoplasia, Agenesis of co... |
OMIM:613150 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Seizure, Thick corpus callosum |
OMIM:300967 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Chiari type I malformation, Seizure, Cerebellar hypoplasia, Hypoplasi... |
ORPHA:466791 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... |
OMIM:613406 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |