Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
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 |
Schizencephaly |
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Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy |
OMIM:269160 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Chudley-Mccullough Syndrome |
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Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosu... |
OMIM:604213 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Abnormality of the anterior commissure, Agenesis of corpus callosum, Hydrocephalus |
OMIM:617542 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
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Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... |
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, Abnormal cerebral white matter morphology, Dysplastic ... |
ORPHA:500166 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... |
OMIM:614039 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Agenesis of corpus callosum, Hydrocephalus |
OMIM:166990 |
Spastic Paraplegia 45, Autosomal Recessive |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Decreased body weight, Hyperactivity |
OMIM:616311 |
Sub-Cortical Nodular Heterotopia |
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Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Agenesis of... |
ORPHA:101029 |
Corpus Callosum, Agenesis Of |
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Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:171703 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Primary microcephaly, Dysplastic corpus callosum |
OMIM:618010 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormality of the anterior commissure, Thin corpus callosum, Pachygyria |
ORPHA:572013 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Polymicrogyria, Partial agenesis of the corpus callosum, Frontoparietal cortical dysplasia, Pachy... |
OMIM:610031 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
Lissencephaly 4 |
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Colpocephaly, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus c... |
OMIM:614019 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Large for gestational age |
ORPHA:356996 |
Microcephaly 5, Primary, Autosomal Recessive |
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Simplified gyral pattern, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of ... |
OMIM:608716 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Agenesis of corpus callosum |
ORPHA:85334 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum |
OMIM:619501 |
Lissencephaly 9 With Complex Brainstem Malformation |
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Pachygyria, Microcephaly, Lissencephaly, Hypoplastic anterior commissure, Hypoplasia of the corpu... |
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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Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Lissencephaly, X-Linked, 1 |
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Agyria, Lissencephaly, Agenesis of corpus callosum, Pachygyria |
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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Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... |
OMIM:615771 |
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 |
Mismatch Repair Cancer Syndrome 4 |
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Agenesis of corpus callosum |
OMIM:619101 |
Fetal Akinesia Syndrome, X-Linked |
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Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Lissencephaly 3 |
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Polymicrogyria, Pachygyria, Microcephaly, Agyria, Lissencephaly, Hypoplasia of the corpus callosu... |
OMIM:611603 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Agenesis of the anterior commissure, Type II lissencephaly, Polymicrogyria, Primary microcephaly,... |
ORPHA:300570 |
Lissencephaly Due To Tuba1A Mutation |
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Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... |
ORPHA:171680 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Agenesis of corpus callosum, Cerebral atrophy, Partial agenesis of the corpus callosum |
ORPHA:85179 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Microcephaly, Hypoplasia of... |
OMIM:618492 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Polymicrogyria Due To Tubb2B Mutation |
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Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... |
ORPHA:300573 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Congenital Disorder Of Glycosylation, Type Iiy |
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Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Thin corpus callosum |
OMIM:620200 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Abnormal corpus callosum morphology, Cerebral atrophy, Abnormal basal ganglia morphology, Periven... |
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 |
Band Heterotopia |
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Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum, Subcort... |
OMIM:600348 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:619466 |
Hydrocephalus, Congenital, X-Linked |
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Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Masa Syndrome |
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Agenesis of corpus callosum, Microcephaly, Hydrocephalus |
OMIM:303350 |
Mucolipidosis Iv |
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Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum |
OMIM:252650 |
Craniotelencephalic Dysplasia |
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Frontal encephalocele, Absent septum pellucidum, Lissencephaly, Arrhinencephaly, Agenesis of corp... |
OMIM:218670 |
Familial Congenital Mirror Movements |
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Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
Craniotelencephalic Dysplasia |
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Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Lissencephaly, Microcephaly, Arrhine... |
ORPHA:1528 |
Smith-Magenis syndrome |
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Hyperactivity |
DECIPHER:8 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Polymicrogyria, Dysplastic corpus callosum, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:614833 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:619955 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
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Hypoplasia of the corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Hydroce... |
OMIM:304100 |
Holoprosencephaly 11 |
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Holoprosencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Autosomal Recessive Primary Microcephaly |
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Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria |
ORPHA:2512 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 104 |
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Hyperactivity, Agitation |
OMIM:619970 |
Hartnup Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Hydrolethalus Syndrome 2 |
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Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
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Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Cerebral atrophy, Dysplastic corpus callosum, Periventricular leukomalacia, Abnormal periventricu... |
OMIM:616900 |
Lissencephaly 7 With Cerebellar Hypoplasia |
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Neonatal death, Microcephaly, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:616342 |
Microcephaly 3, Primary, Autosomal Recessive |
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Primary microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small ce... |
OMIM:604804 |
Delpire-Mcneill Syndrome |
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Agenesis of corpus callosum, Cortical dysplasia |
OMIM:619083 |
Microcephaly 10, Primary, Autosomal Recessive |
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Primary microcephaly, Cerebral atrophy, Simplified gyral pattern, Reduced cerebral white matter v... |
OMIM:615095 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Periventricular white matter hyperintensities, Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619737 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity |
OMIM:301076 |
Even-Plus Syndrome |
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Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:616854 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Periven... |
ORPHA:255138 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum |
OMIM:620001 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplast... |
ORPHA:2524 |
Microphthalmia, Syndromic 11 |
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Agenesis of corpus callosum |
OMIM:614402 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
8p23.1 deletion syndrome |
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Hyperactivity |
DECIPHER:39 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Progressive microcephaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Multifocal hy... |
ORPHA:488627 |
Septooptic Dysplasia |
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Absent septum pellucidum, Agenesis of corpus callosum |
OMIM:182230 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Spina bifida occulta, Agenesis of corpus callosum, Microcephaly, Lateral ventricle dilatation |
OMIM:618736 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
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Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Kapur-Toriello Syndrome |
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Polymicrogyria, Pachygyria, Dysplastic corpus callosum |
ORPHA:2328 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
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Colpocephaly, Polymicrogyria, Cerebral atrophy, Schizencephaly, Hydrocephalus, Reduced cerebral w... |
OMIM:620156 |
Microcephaly 26, Primary, Autosomal Dominant |
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Simplified gyral pattern, Dysplastic corpus callosum, Pachygyria, Microcephaly, Hypoplasia of the... |
OMIM:619179 |
Oculoskeletodental Syndrome |
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Focal white matter lesions, Dysplastic corpus callosum |
ORPHA:557003 |
Chiari Malformation Type Ii |
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Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Agenesis of corpus callosum |
OMIM:207950 |
Autosomal Recessive Cutis Laxa Type 2A |
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Primary microcephaly, Secondary microcephaly, Dysplastic corpus callosum, Pachygyria, Thick cereb... |
ORPHA:357058 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microlissencephaly, Simplified gyral pattern, Small cerebral cortex, Microcephaly, Arrhinencephal... |
OMIM:617914 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... |
OMIM:614924 |
Developmental And Epileptic Encephalopathy 49 |
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Hydrocephalus, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, M... |
OMIM:617281 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Focal polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Dysplastic corpus ca... |
OMIM:619103 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:618569 |
Intellectual Developmental Disorder, X-Linked 107 |
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Attention deficit hyperactivity disorder, Hyperactivity, Obesity |
OMIM:301013 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Periventricular cysts, Lateral ventricle dilatation, Dysplastic corpus callosum, Thick corpus cal... |
ORPHA:544488 |
Cerebrofacioarticular Syndrome |
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Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus c... |
ORPHA:314679 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Polymicrogyria, Primary microcephaly, Abnormal corpus callosum morphology, Secondary microcephaly... |
ORPHA:261552 |
Genitourinary And/Or Brain Malformation Syndrome |
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Colpocephaly, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Holoprosencephaly... |
OMIM:618820 |
Isolated Exencephaly |
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Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:563612 |
Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Small for gestational age, Agitation, Hyperactivity, Weight loss |
ORPHA:424 |
Familial Gestational Hyperthyroidism |
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Agitation, Hyperactivity, Weight loss |
ORPHA:99819 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Zttk Syndrome |
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Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Thick corpus callosum, Dysplastic corpus callosum |
OMIM:300967 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Polymicrogyria, Simplified gyral pattern, Ischemic stroke, Lateral ventricle dilatation, Dysplast... |
ORPHA:500150 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
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Dysplastic corpus callosum, Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasi... |
OMIM:613406 |