Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Overfriendliness, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Chudley-Mccullough Syndrome |
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Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dysplastic corpus cal... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Childhood-Onset Benign Chorea With Striatal Involvement |
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Anxiety, Abnormal corpus striatum morphology, Striatal T2 hyperintensity |
ORPHA:494541 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Dysplastic corpus callosum, Poor eye contact, Microcephaly |
OMIM:618276 |
Spastic Paraplegia 45, Autosomal Recessive |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Frontotemporal cerebral atrophy, Inappropriate behavior, Abnormal neuron morphology, Apathy, Diff... |
ORPHA:412066 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:610031 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... |
OMIM:614039 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Aggressive behavior, Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypopl... |
OMIM:618492 |
Sub-Cortical Nodular Heterotopia |
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Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Lissencephaly 4 |
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Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:614019 |
Glycine Encephalopathy |
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Aggressive behavior, Irritability, Agenesis of corpus callosum, Impulsivity |
OMIM:605899 |
Microcephaly 5, Primary, Autosomal Recessive |
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Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Cortical dysp... |
OMIM:608716 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Lissencephaly 3 |
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Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Hypoplasia of the corpus callosum, Agenesis of... |
OMIM:611603 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... |
ORPHA:85179 |
Polymicrogyria Due To Tubb2B Mutation |
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Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Pandas |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
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Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum |
OMIM:616490 |
Mucolipidosis Iv |
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Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly |
OMIM:252650 |
Microcephaly, Amish Type |
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Partial agenesis of the corpus callosum, Progressive microcephaly, Irritability |
OMIM:607196 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614833 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
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Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Aggressive behavior, ... |
ORPHA:488627 |
Familial Congenital Mirror Movements |
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Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... |
ORPHA:238722 |
Early-Onset Schizophrenia |
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Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Lack of pee... |
ORPHA:96369 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Dysplastic corpus callosum, Small basal ganglia, Periventricular leukomalacia, Cerebral atrophy, ... |
OMIM:616900 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Agenesis of corpus callosum |
OMIM:614111 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
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Agenesis of corpus callosum |
OMIM:225040 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Microhydranencephaly |
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Hydranencephaly, Self-mutilation, Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:605013 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysplast... |
ORPHA:2524 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Focal polymicrogyria, Head-b... |
OMIM:619103 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Self-injurious behavi... |
ORPHA:544488 |
Oculocerebrodental Syndrome |
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Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology |
ORPHA:557003 |
Microphthalmia, Syndromic 11 |
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Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Head-banging, Microcephaly |
OMIM:618569 |
Septooptic Dysplasia |
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Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... |
OMIM:182230 |
Microcephaly 26, Primary, Autosomal Dominant |
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Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... |
OMIM:619179 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Cerebrofacioarticular Syndrome |
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Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corpus callosum, Agenesis ... |
ORPHA:314679 |
Kapur-Toriello Syndrome |
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Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
Autosomal Recessive Cutis Laxa Type 2A |
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Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cerebral cortex, Secondary mi... |
ORPHA:357058 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum |
OMIM:618810 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum |
ORPHA:363444 |
White-Kernohan Syndrome |
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Anxiety, Dysplastic corpus callosum |
OMIM:619426 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Pineal cyst, Dysplastic corpus callosum, Aggressive behavior, Thick corpus callosum, Impulsivity |
OMIM:300967 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Polymicrogyria, Secondary mic... |
OMIM:618820 |
Witteveen-Kolk Syndrome |
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Dysplastic corpus callosum, Aggressive behavior, Conspicuously happy disposition, Decreased respo... |
OMIM:613406 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Shyness, Dysplastic corpus callosum, Aggressive behavior, Anterior pituitary hypoplasia, Anxiety,... |
ORPHA:466791 |
Zttk Syndrome |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Periventricular leukomalacia, Abno... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysplastic corpus callosum, Abnormal cerebral cortex morphology, Simplified gyral pattern, Polymi... |
ORPHA:500150 |