Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly |
ORPHA:171703 |
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 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... |
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 |
Lissencephaly 4 |
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Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
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 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Leukoencephalopathy With Vanishing White Matter 5 |
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Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... |
OMIM:620315 |
Sub-Cortical Nodular Heterotopia |
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Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Microcephaly 5, Primary, Autosomal Recessive |
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Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
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 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... |
OMIM:615771 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Band Heterotopia |
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Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Corpus Callosum, Agenesis Of |
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Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
Masa Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ... |
ORPHA:85179 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Lissencephaly Due To Tuba1A Mutation |
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Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... |
OMIM:611603 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... |
OMIM:620200 |
Lissencephaly, X-Linked, 1 |
|
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
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 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum |
OMIM:300073 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep... |
OMIM:617090 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Congenital Hydrocephalus |
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Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly |
OMIM:618266 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
Autosomal Recessive Primary Microcephaly |
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Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... |
ORPHA:2512 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca... |
OMIM:304100 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
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Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... |
OMIM:615889 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum |
ORPHA:1528 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus |
ORPHA:73256 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Lissencephaly, Absent septum pellucidum |
OMIM:218670 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum... |
ORPHA:255138 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum |
ORPHA:488635 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... |
OMIM:619517 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ... |
ORPHA:79243 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... |
ORPHA:488627 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:618736 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2182 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Pontocerebellar Hypoplasia Type 2 |
|
Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu... |
ORPHA:2524 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum |
OMIM:614402 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Cerebral cortical hemiatrophy |
ORPHA:306669 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... |
OMIM:221770 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Basal ganglia gliosis... |
OMIM:607596 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, V... |
OMIM:616034 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:616602 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... |
ORPHA:284417 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly |
OMIM:615716 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha... |
ORPHA:357058 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c... |
OMIM:617281 |
Holoprosencephaly 5 |
|
Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:609637 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... |
ORPHA:565624 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618619 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... |
ORPHA:2148 |
Joubert Syndrome 3 |
|
Frontal polymicrogyria, Lateral ventricle dilatation, Enlarged fossa interpeduncularis, Thin corp... |
OMIM:608629 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos... |
ORPHA:208447 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Hydrocephalus, Colpocephaly, Periventricular leukomalacia, Thin corpus callosum, Ve... |
OMIM:619833 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:610015 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... |
OMIM:617751 |
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 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria |
OMIM:614219 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:614105 |
X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... |
OMIM:618291 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Micro... |
OMIM:618606 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... |
ORPHA:356961 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... |
OMIM:620075 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:420179 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum |
OMIM:617854 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
OMIM:609053 |
Cerebrofacioarticular Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of corpus c... |
ORPHA:314679 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy |
OMIM:607485 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... |
OMIM:620113 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... |
OMIM:613154 |
Pseudo-Torch Syndrome 2 |
|
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Cach Syndrome |
|
Lateral ventricle dilatation, Dysgyria, Cerebral atrophy, Microcephaly |
ORPHA:135 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly |
ORPHA:3078 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... |
ORPHA:261552 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... |
OMIM:617260 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Leukoencephalopathy, Cerebral atrophy, Lateral ventricle dilatation, Ce... |
ORPHA:572798 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... |
ORPHA:2822 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus |
OMIM:612863 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Absent septum pellucidum, Abnormal basal ganglia morphology, Colpocephaly, Late... |
ORPHA:397715 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:618914 |
Spondyloenchondrodysplasia |
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Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... |
ORPHA:1855 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Lateral ventricle dilatation, Microcephaly, Cerebral atrophy, Primary microcephaly |
OMIM:619847 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
16Q24.3 Microdeletion Syndrome |
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Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:261250 |
Cog5-Cdg |
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Diffuse cerebral atrophy, Cerebral white matter atrophy, Lateral ventricle dilatation, Microcephaly |
ORPHA:263487 |
Genitourinary And/Or Brain Malformation Syndrome |
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Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... |
OMIM:618820 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal corpus callosum morphology, Abnor... |
ORPHA:457279 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Lenz-Majewski Hyperostotic Dwarfism |
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Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,... |
OMIM:151050 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Glutaric Acidemia I |
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Lateral ventricle dilatation, Hydrocephalus |
OMIM:231670 |
Aicardi-Goutieres Syndrome 9 |
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Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... |
OMIM:619487 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Lateral ventricle dilatation |
OMIM:619995 |
Aicardi Syndrome |
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Microcephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cy... |
OMIM:304050 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Macrogyria, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Polymicrogyria |
OMIM:614866 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly |
OMIM:301043 |
Zttk Syndrome |
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Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypoplasia of the corpus c... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white m... |
ORPHA:500150 |
Neurocardiofaciodigital Syndrome |
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Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... |
OMIM:619869 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:619479 |
6Q Terminal Deletion Syndrome |
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Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus callosum, Abnor... |
ORPHA:75857 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,... |
OMIM:210710 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:477993 |
Khan-Khan-Katsanis Syndrome |
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Colpocephaly, Ventriculomegaly, Microcephaly |
OMIM:618460 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618367 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Colpocephaly, Microcephaly |
OMIM:620083 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Smith-Lemli-Opitz Syndrome |
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Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... |
OMIM:270400 |
Osteopetrosis, Autosomal Recessive 7 |
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Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
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Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Congenital Disorder Of Glycosylation, Type Iim |
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Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:300896 |
Keppen-Lubinsky Syndrome |
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Lateral ventricle dilatation, Microcephaly |
OMIM:614098 |
Genitopatellar Syndrome |
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Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Secondary microcephaly, Abnormal corpus callosum morphology |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Secondary microcephaly, Abnormal corpus callosum morphology |
ORPHA:353277 |