| Agenesis Of Cerebral White Matter |
|
Cerebral white matter agenesis |
OMIM:202600 |
| Specific Language Impairment 5 |
|
Hyperintensity of cerebral white matter on MRI |
OMIM:615432 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Abnormal basal ganglia morphology, Subcortical heterotopia, Abnormality of neuron... |
ORPHA:101029 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Schizencephaly |
|
Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy |
OMIM:269160 |
| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia, Dysplastic corp... |
OMIM:604213 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Thin corpus callosum, Cortical dysplasia, Gray matter heterotopia, Pachygyria, Microcephaly, Agyr... |
OMIM:615411 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
| Lissencephaly 3 |
|
Polymicrogyria, Gray matter heterotopia, Pachygyria, Microcephaly, Agyria, Lissencephaly, Periven... |
OMIM:611603 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... |
OMIM:600638 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... |
OMIM:614039 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
| Microlissencephaly |
|
Polymicrogyria, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Subcortical heter... |
ORPHA:1083 |
| Lissencephaly 1 |
|
Secondary microcephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Pachy... |
OMIM:607432 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Abnormal cerebral white matter morphology, Dysplastic ... |
ORPHA:500166 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Frontoparietal cortical dysplasia, Pachy... |
OMIM:610031 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... |
ORPHA:300573 |
| Lissencephaly 4 |
|
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus c... |
OMIM:614019 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Thin corpus callosum, Pachygyria |
ORPHA:572013 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:171703 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Progressive microcephaly, Microcephaly, Hypoplasia of the co... |
OMIM:608097 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum |
ORPHA:250972 |
| Band Heterotopia |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Agenesis of corpus callosu... |
OMIM:600348 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Pachygyria, Microcephaly, Lissencephaly, Hypoplastic anterior commissure, Hypoplasia of the corpu... |
OMIM:618325 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of ... |
OMIM:608716 |
| Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Primary microcephaly, Dysplastic corpus callosum |
OMIM:618010 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Reduced cerebral white matter volume |
OMIM:618185 |
| Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Gray matter heterotopia, Pachygyria, Microcephaly, Agenesis of c... |
ORPHA:2512 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... |
OMIM:615771 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Microcephaly, Abnormality of neuronal migration, Cortical dy... |
OMIM:618709 |
| Glutathionuria |
|
Agenesis of corpus callosum, Reduced gamma-glutamyltransferase level, Gray matter heterotopia |
OMIM:231950 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Hypoplasia of the corpus callosum, Periventricular ribbonlike heterotopia, Thick c... |
OMIM:618677 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Type II lissencephaly, Polymicrogyria, Primary microcephaly, Partial agenesis of the corpus callo... |
ORPHA:300570 |
| Lissencephaly Due To Tuba1A Mutation |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... |
ORPHA:171680 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum |
OMIM:166990 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum |
OMIM:618276 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Schizencephaly, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Mi... |
OMIM:604317 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... |
OMIM:616212 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:619466 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microcephaly... |
OMIM:616171 |
| Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter he... |
ORPHA:101030 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Periven... |
ORPHA:255138 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Primary microcephaly, Microlissencephaly, Cerebral calcification, Hypopl... |
ORPHA:89844 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Dysplastic corpus callosum, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:614833 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Polymicrogyria, Neonatal death, Aplasia/Hypoplasia of the pyramidal t... |
OMIM:619602 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification |
ORPHA:1980 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:164180 |
| Lissencephaly 5 |
|
Type II lissencephaly, Porencephalic cyst, Gray matter heterotopia, Abnormal cerebral white matte... |
OMIM:615191 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morphology, Gray matter heterotopia |
ORPHA:352682 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification |
ORPHA:1314 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum |
OMIM:218670 |
| Mucolipidosis Iv |
|
Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum |
OMIM:252650 |
| Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Primary microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small ce... |
OMIM:604804 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Hemimegalencephaly, Polymicrogyria, Gray matter heterotopia, Pachygyria... |
ORPHA:99802 |
| 3-Hydroxyisobutyric Aciduria |
|
Congenital intracerebral calcification, Microcephaly, Abnormality of neuronal migration |
OMIM:236795 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Lissencephaly, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:1528 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:619955 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular white matter hyperintensities, Periventricular nodular heterotopia, Secondary mic... |
OMIM:619737 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:2216 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Abnormal circul... |
ORPHA:899 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Abnormal cerebral white matter morphology, Pachygyria, Microcephaly, Gray matter heterotopia |
ORPHA:370980 |
| Brain Small Vessel Disease 2 |
|
Polymicrogyria, Porencephalic cyst, Schizencephaly, Subcortical heterotopia |
OMIM:614483 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum |
OMIM:620001 |
| Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Thin corpus callosum, Abnormality of neuronal migration, Gray ... |
OMIM:300049 |
| Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplast... |
ORPHA:2524 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebral atrophy, Dysplastic corpus callosum, Periventricular leukomalacia, Abnormal periventricu... |
OMIM:616900 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Reduced carnitine O-palmitoyltransferase level, Abnormal basal ganglia morphology... |
ORPHA:157 |
| Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
| Chiari Malformation Type Ii |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:207950 |
| Kapur-Toriello Syndrome |
|
Polymicrogyria, Pachygyria, Dysplastic corpus callosum |
ORPHA:2328 |
| Even-Plus Syndrome |
|
Agenesis of corpus callosum, Dysplastic corpus callosum |
OMIM:616854 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Microcephaly, Lissencephaly, Age... |
OMIM:615219 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Thick corpus callosum, Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heter... |
OMIM:614643 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Simplified gyral pattern, Dysplastic corpus callosum, Pachygyria, Microcephaly, Hypoplasia of the... |
OMIM:619179 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Microcephaly, Dysplastic corpus callosum |
OMIM:604273 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum |
OMIM:614402 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Gray matter heterotopi... |
ORPHA:370959 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614924 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Progressive microcephaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Multifocal hy... |
ORPHA:488627 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Reduced carnitine O-palmitoyltransferase level, Intracerebral periventricular cal... |
ORPHA:228308 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:2204 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
| Congenital Disorder Of Deglycosylation 2 |
|
Polymicrogyria, Thin corpus callosum, Partial agenesis of the corpus callosum, Gray matter hetero... |
OMIM:619775 |
| Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:1493 |
| Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Pachygyria, Mic... |
ORPHA:35107 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Thin corpus callosum, Microcephaly, Gray matter heterotopia |
OMIM:619694 |
| Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Elevated hepatic transaminase, Lateral ventricle dilatation, Cerebral calcificati... |
OMIM:617397 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Primary microcephaly, Secondary microcephaly, Dysplastic corpus callosum, Pachygyria, Thick cereb... |
ORPHA:357058 |
| Poretti-Boltshauser Syndrome |
|
Abnormal periventricular white matter morphology, Gray matter heterotopia |
OMIM:615960 |
| Oculoskeletodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum |
ORPHA:557003 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia, Microcephaly, Cerebral atrophy |
OMIM:300337 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Dysplastic corpus ca... |
OMIM:619103 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Thin corpus callosum, Lateral ventricle dilatation, Microcephaly, Hypoplasia of the corpus callos... |
OMIM:614105 |
| Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, Cortical dysplasia,... |
OMIM:617201 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Elevated circulating aspartate aminotransferase concentration, Basal ganglia cyst... |
OMIM:608836 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebral white matter morphology, Microcephaly, Abnormality of neuronal migration |
OMIM:300957 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Jaundice, Polymicrogyria, Intrahepatic cholestasis, Elevated circulating aspartate aminotransfera... |
OMIM:614887 |
| Alg11-Cdg |
|
Cerebral atrophy, Elevated hepatic transaminase, Gray matter heterotopia, Abnormal cerebral white... |
ORPHA:280071 |
| Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:314679 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:2772 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular heterotopia |
OMIM:618974 |
| 16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Abnormality of neuronal migration |
ORPHA:261236 |
| Tetrasomy 18P |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:3307 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Microcephaly, Gray matter heterotopia |
OMIM:617008 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Cerebral calcificati... |
OMIM:618476 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:618569 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
| Developmental And Epileptic Encephalopathy 49 |
|
Basal ganglia calcification, Microcephaly, Cerebral calcification, Dysplastic corpus callosum |
OMIM:617281 |
| Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Gray matter heterotopia |
OMIM:619312 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Primary microcephaly, Cerebral calcification, Neonatal death, Gray matter... |
OMIM:620024 |
| Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Tubulonodular pericallosal lipoma, Gray matter heterotopia, ... |
OMIM:603671 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Thin corpus callosum, Microcephaly, Periventricular leukomalacia, Periventricular h... |
OMIM:619833 |
| Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Periventricular cysts, Lateral ventricle dilatation, Dysplastic corpus callosum, Thick corpus cal... |
ORPHA:544488 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Polymicrogyria, Primary microcephaly, Abnormal corpus callosum morphology, Secondary microcephaly... |
ORPHA:261552 |
| Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:276300 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Abnormality of neuronal migration |
ORPHA:2518 |
| Holoprosencephaly 14 |
|
Partial agenesis of the corpus callosum, Absent septum pellucidum, Gray matter heterotopia, Micro... |
OMIM:619895 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Hypoplasia of the frontal lobes, Cerebral atrophy, Simplified gyral pattern, Pach... |
ORPHA:468631 |
| 6Q Terminal Deletion Syndrome |
|
Colpocephaly, Polymicrogyria, Gray matter heterotopia, Abnormal cerebral white matter morphology,... |
ORPHA:75857 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Abnormal c... |
OMIM:615287 |
| Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
| Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gray matter heterot... |
OMIM:605039 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
| 9Q21.13 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia |
ORPHA:531151 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Dysplastic corpus... |
OMIM:618820 |
| Joubert Syndrome |
|
Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration |
ORPHA:475 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Cerebral calcif... |
ORPHA:2671 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter heterotopia |
OMIM:618797 |
| Aicardi Syndrome |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Gray matte... |
OMIM:304050 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Lissencephaly, Abnormality of... |
ORPHA:2211 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Chronic hepatic failure, Portal hypertension, Aplasia/Hypoplasia o... |
ORPHA:1454 |
| Joubert Syndrome With Oculorenal Defect |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration |
ORPHA:2318 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Abnormality of neuronal migration |
ORPHA:163681 |
| Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Simplified gyral pattern, Gray matter heterotopia, Pachygyri... |
OMIM:601390 |
| Miller-Dieker Lissencephaly Syndrome |
|
Midline brain calcifications, Gray matter heterotopia, Pachygyria, Microcephaly, Agyria, Lissence... |
OMIM:247200 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
| Alkuraya-Kucinskas Syndrome |
|
Lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia |
OMIM:617822 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Periventricular heterotopia |
ORPHA:261250 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Microcephaly, Abnormality of neuronal migration |
ORPHA:2065 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
| Coffin-Lowry Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly, Abnormality o... |
ORPHA:192 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Colpocephaly, Abnormal cortical gyration, Polymicrogyria, Hypoplasia of the frontal lobes, Partia... |
OMIM:210710 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Cerebral atrophy, Porencephalic cyst, Gray matter heterotopia, Microc... |
OMIM:311200 |
| Orofaciodigital Syndrome Vi |
|
Polymicrogyria, Periventricular nodular heterotopia, Porencephalic cyst, Arrhinencephaly, Agenesi... |
OMIM:277170 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Stillbirth, Gray matter hetero... |
OMIM:236680 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia |
OMIM:305450 |
| Vici Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Schizencephaly, Gray matter heterotopia |
OMIM:242840 |
| Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Absent septum pellucidum, Periventricular heterotopia |
OMIM:618870 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum |
OMIM:151050 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Polymicrogyria, Prolonged neonatal jaundice, Gray matter heterotopia, Aplasia/Hypoplasia of the c... |
OMIM:214100 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Elevated hepatic transaminase, Decreas... |
ORPHA:26791 |
| Van Maldergem Syndrome 2 |
|
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Subcortical band heteroto... |
OMIM:615546 |
| Periventricular Nodular Heterotopia 9 |
|
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, Microcephaly, Hypop... |
OMIM:618918 |
| 3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
| Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration |
ORPHA:2754 |
| Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death |
OMIM:187600 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Open operculum, Microcephaly, Hypoplasia of the corpus c... |
ORPHA:434179 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gray matter heterot... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Gray matter heterot... |
ORPHA:352665 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
| Orofaciodigital Syndrome Xiv |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microcephaly, ... |
OMIM:615948 |
| Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
| Koolen-De Vries Syndrome |
|
Hypoplasia of the corpus callosum, Microcephaly, Gray matter heterotopia |
OMIM:610443 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly, Abnormality of neuron... |
ORPHA:464311 |
| Zttk Syndrome |
|
Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... |
OMIM:617140 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hypoplasia of the corpus callosum, Microcephaly, Gray matter heterotopia |
ORPHA:453499 |
| Genitopatellar Syndrome |
|
Colpocephaly, Thin corpus callosum, Pachygyria, Microcephaly, Agenesis of corpus callosum, Perive... |
OMIM:606170 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Dysplastic corpus callosum |
OMIM:300967 |
| Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Abnormality of neuronal migration |
ORPHA:2162 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Polymicrogyria, Simplified gyral pattern, Ischemic stroke, Lateral ventricle dilatation, Dysplast... |
ORPHA:500150 |
| Bilateral Perisylvian Polymicrogyria |
|
Bilateral perisylvian polymicrogyria, Microcephaly, Abnormality of neuronal migration, Perisylvia... |
ORPHA:98889 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
| Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Hypoplasia of the frontal lobes, Partial agenesis of the corpus callosum, Diffuse c... |
OMIM:270400 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
ORPHA:466791 |
| Nijmegen Breakage Syndrome |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:647 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:3186 |
| Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Neonatal death, Microcephaly, Hypoplasia of the corpus callosum, Periven... |
OMIM:612289 |
| Witteveen-Kolk Syndrome |
|
Dysplastic corpus callosum, Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasi... |
OMIM:613406 |
| Pagod Syndrome |
|
Microcephaly, Abnormality of neuronal migration |
ORPHA:991 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Polymicrogyria, Primary microcephaly, Abnormal corpus callosum morphology, Secondary microcephaly... |
ORPHA:261537 |
| Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
| Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Polymicrogyria, Large basal ganglia, Abnormal cerebral white matter mor... |
ORPHA:2152 |
| Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
