Schizencephaly |
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Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... |
ORPHA:500166 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,... |
OMIM:614039 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Isolated Corpus Callosum Agenesis |
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Dysphagia, Agenesis of corpus callosum |
ORPHA:200 |
Glycine Encephalopathy 1 |
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Agenesis of corpus callosum, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impu... |
OMIM:605899 |
Microcephaly 5, Primary, Autosomal Recessive |
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Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcepha... |
OMIM:608716 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity |
ORPHA:599373 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior, Microcephaly, Cortic... |
ORPHA:208441 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Pandas |
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Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
Polymicrogyria Due To Tubb2B Mutation |
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Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Dysg... |
ORPHA:300573 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, 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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Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c... |
ORPHA:171680 |
Weiss-Kruszka Syndrome |
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Dysplastic corpus callosum |
ORPHA:502430 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Aggressive behavior, Microcephaly, Overfriendliness |
OMIM:618010 |
Mucolipidosis Iv |
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Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination |
OMIM:252650 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Oral-pharyngeal dysphagia, Hypoplasia of the corpus callosum, Dysplas... |
ORPHA:2524 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... |
OMIM:616900 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly |
OMIM:614833 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... |
ORPHA:488627 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Microcephaly, Dysphagia, Simplified gyral pattern |
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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Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... |
OMIM:619103 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Punctate periventricular T2 hyperintense foci, Inappropriate beha... |
ORPHA:309246 |
Microcephaly 26, Primary, Autosomal Dominant |
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Hypoplasia of the corpus callosum, Stereotypical hand wringing, Dysplastic corpus callosum, Micro... |
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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Self-injurious behavior, Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus c... |
ORPHA:544488 |
Autosomal Recessive Cutis Laxa Type 2A |
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Secondary microcephaly, Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cereb... |
ORPHA:357058 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Developmental And Epileptic Encephalopathy 49 |
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Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly, Hy... |
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 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum |
OMIM:618569 |
Cerebrofacioarticular Syndrome |
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Self-injurious behavior, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplast... |
ORPHA:314679 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:614924 |
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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Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
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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Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
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, Attention deficit hyperactivity disorder |
OMIM:619426 |
Pituitary Adenoma 4, Acth-Secreting |
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Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dysplastic corpus callosum, Aggressive behavior, Impulsivity, Thick corpus callosum |
OMIM:300967 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Pseudobulbar paralysis, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive... |
ORPHA:466791 |
Zttk Syndrome |
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Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Periventricular leukomalac... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Polymicrogyria, Ischemic strok... |
ORPHA:500150 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Secondary microcephaly, Emotional labili... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Sec... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal corpus callosum morphology, Abnormal fear-induced behavior, Sec... |
ORPHA:353277 |
Witteveen-Kolk Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive behavior, Attention def... |
OMIM:613406 |