Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
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Attention deficit hyperactivity disorder |
OMIM:619957 |
Gilles De La Tourette Syndrome |
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Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
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Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Decreased body weight |
OMIM:616311 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Sub-Cortical Nodular Heterotopia |
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Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Corpus Callosum, Agenesis Of |
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Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Fetal Akinesia Syndrome, X-Linked |
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Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Lissencephaly 4 |
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Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Microcephaly 5, Primary, Autosomal Recessive |
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Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Agenesis of corpus callosum |
ORPHA:85334 |
Fraxe Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum |
OMIM:619501 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
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Agenesis of corpus callosum |
OMIM:618197 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Lissencephaly, X-Linked, 1 |
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Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... |
OMIM:615771 |
Mismatch Repair Cancer Syndrome 4 |
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Agenesis of corpus callosum |
OMIM:619101 |
Masa Syndrome |
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Agenesis of corpus callosum |
ORPHA:2466 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Lissencephaly 3 |
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Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... |
OMIM:611603 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
Lissencephaly Due To Tuba1A Mutation |
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Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Polymicrogyria Due To Tubb2B Mutation |
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Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Congenital Disorder Of Glycosylation, Type Iiy |
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Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:620200 |
Band Heterotopia |
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Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Agenesis of corpus callosum |
ORPHA:459074 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Agenesis of corpus callosum |
OMIM:614111 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi... |
ORPHA:1528 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Pontocerebellar Hypoplasia, Type 15 |
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Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... |
OMIM:619302 |
Hydrocephalus, Congenital, X-Linked |
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Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Craniotelencephalic Dysplasia |
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Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Absent septum pellucidum |
OMIM:218670 |
Mucolipidosis Iv |
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Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Masa Syndrome |
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Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Familial Congenital Mirror Movements |
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Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Developmental And Epileptic Encephalopathy 43 |
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Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus callosum, Microc... |
OMIM:304100 |
Holoprosencephaly 11 |
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Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
Autosomal Recessive Primary Microcephaly |
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Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Hartnup Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Hyperprolinemia, Type I |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked 111 |
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Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Morm Syndrome |
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Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Microcephaly 3, Primary, Autosomal Recessive |
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Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Lissencephaly 7 With Cerebellar Hypoplasia |
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Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
Hydrolethalus Syndrome 2 |
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Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Delpire-Mcneill Syndrome |
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Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Microcephaly 10, Primary, Autosomal Recessive |
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Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Primary microce... |
OMIM:615095 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... |
ORPHA:255138 |
Pontocerebellar Hypoplasia Type 2 |
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Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Microphthalmia, Syndromic 11 |
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Agenesis of corpus callosum |
OMIM:614402 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Microcephaly |
OMIM:618736 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Hydrocephalus, Dysplastic corp... |
OMIM:617281 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... |
ORPHA:314679 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... |
ORPHA:261552 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Isolated Exencephaly |
|
Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:563612 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hyperactivity, Agitation, Weight loss |
ORPHA:424 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Weight loss |
ORPHA:99819 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Zttk Syndrome |
|
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ... |
ORPHA:500150 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |