Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly |
OMIM:618010 |
Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno... |
ORPHA:500166 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
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 |
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 |
Glycine Encephalopathy 1 |
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Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... |
OMIM:605899 |
Microcephaly 5, Primary, Autosomal Recessive |
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Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
Stxbp1-Related Encephalopathy |
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Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... |
ORPHA:208441 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Polymicrogyria Due To Tubb2B Mutation |
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Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Lissencephaly Due To Tuba1A Mutation |
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Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Mucolipidosis Iv |
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Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
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 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypoplasia of ... |
ORPHA:2524 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
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 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... |
ORPHA:488627 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Microcephaly |
OMIM:620001 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cerebral atrophy, Punctate periventricula... |
ORPHA:309246 |
Microcephaly 26, Primary, Autosomal Dominant |
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Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... |
ORPHA:544488 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Autosomal Recessive Cutis Laxa Type 2A |
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Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic corp... |
OMIM:617281 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Cerebrofacioarticular Syndrome |
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Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callo... |
ORPHA:314679 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum |
OMIM:618810 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
Genitourinary And/Or Brain Malformation Syndrome |
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Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... |
OMIM:618820 |
Lenz-Majewski Hyperostotic Dwarfism |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Thick corpus callosum, Impulsivity, Aggressive behavior |
OMIM:300967 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Aggressive behavior, Shyness, Dysplastic corpus callosum, Pseudobulbar paralysis, Hypoplasia of t... |
ORPHA:466791 |
Zttk Syndrome |
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Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Abnormal cerebral white matter m... |
ORPHA:500150 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... |
OMIM:613406 |