Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter hetero... |
OMIM:604213 |
Microlissencephaly |
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Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Cerebellar atrophy, T... |
ORPHA:1083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Cerebellar hypoplasia, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... |
OMIM:610031 |
Lissencephaly 4 |
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Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hy... |
OMIM:614019 |
Lissencephaly 3 |
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Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Gray mat... |
OMIM:611603 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Dysgenesis of the basal g... |
OMIM:615771 |
Microcephaly 5, Primary, Autosomal Recessive |
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Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... |
OMIM:608716 |
Polymicrogyria Due To Tubb2B Mutation |
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Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... |
ORPHA:300573 |
Pulmonary Hypoplasia, Primary |
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Neonatal death |
OMIM:265430 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Hypoplasia of the pons, Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
Diaphragmatic Hernia 5, X-Linked |
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Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
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Neonatal death |
OMIM:226735 |
Lissencephaly Due To Tuba1A Mutation |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Poly... |
ORPHA:171680 |
Joubert Syndrome 23 |
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Cerebellar dysplasia, Dysplastic corpus callosum |
OMIM:616490 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
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Polymicrogyria, Abnormal cortical gyration, Neonatal death |
OMIM:619602 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... |
ORPHA:500166 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Hyperin... |
OMIM:620317 |
Craniotelencephalic Dysplasia |
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Cerebellar hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Lissencephaly |
OMIM:218670 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... |
OMIM:614833 |
Joubert Syndrome 30 |
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Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matter heterotopia, Agenesis ... |
OMIM:617622 |
Mucolipidosis Iv |
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Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Microcephaly |
OMIM:252650 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Neonatal death |
OMIM:257100 |
Pontocerebellar Hypoplasia Type 2 |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar cyst, Abnormal cortical... |
ORPHA:2524 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... |
OMIM:616900 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
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Neonatal death, Patent ductus arteriosus |
OMIM:601612 |
Weiss-Kruszka Syndrome |
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Dysplastic corpus callosum |
ORPHA:502430 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum |
OMIM:620001 |
Autosomal Recessive Cutis Laxa Type 2A |
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Dysplastic corpus callosum, Secondary microcephaly, Cerebellar vermis hypoplasia, Dandy-Walker ma... |
ORPHA:357058 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Dysplastic corpus callosum, Periventricular white matter hyperintensities, Periventricular nodula... |
OMIM:619737 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Partial agene... |
OMIM:619103 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:619955 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
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Cerebellar vermis hypoplasia, Thick corpus callosum, Simplified gyral pattern, Cerebellar hypopla... |
OMIM:618273 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Developmental And Epileptic Encephalopathy 49 |
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Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Cerebral cal... |
OMIM:617281 |
Cerebrofacioarticular Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Gray... |
ORPHA:314679 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Polymicrogyria, Pachygyria, Patent ductus arteriosus |
ORPHA:2328 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Progressive microcephaly, Multifoc... |
ORPHA:488627 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dysplastic corpus callosum, Lateral ventricle dilatation, Hyperintensity of cerebral white matter... |
ORPHA:544488 |
Microcephaly 26, Primary, Autosomal Dominant |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat... |
OMIM:619179 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:618010 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Secondary microcephaly, Polymicrogyria, Gray matter heterotopia, Colp... |
OMIM:618820 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Hypoplasia of the c... |
OMIM:614924 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus |
ORPHA:363444 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618569 |
Zttk Syndrome |
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Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abno... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Cerebellar hypoplasia, Thick corpus callosum, Patent ductus arteriosus |
OMIM:300967 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Isch... |
ORPHA:500150 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Chiari type I malformation, Patent... |
ORPHA:466791 |
Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:151050 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Witteveen-Kolk Syndrome |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cortical dysplasia, Microcephaly, ... |
OMIM:613406 |