| 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 |
|
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... |
ORPHA:101029 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Hyp... |
OMIM:604213 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Thin corpus callosum, Gray matter... |
OMIM:615411 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| Lissencephaly 3 |
|
Periventricular laminar heterotopia, Microcephaly, Pachygyria, Gray matter heterotopia, Lissencep... |
OMIM:611603 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
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, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
| Microlissencephaly |
|
Thick cerebral cortex, Subcortical heterotopia, Cerebral dysmyelination, Periventricular heteroto... |
ORPHA:1083 |
| Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Abnormal cerebral white matter morphology,... |
OMIM:607432 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... |
OMIM:610031 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Dysgenesis of the b... |
ORPHA:300573 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Microcephaly, Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nod... |
OMIM:608097 |
| Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... |
OMIM:608716 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Reduced cerebral white matter volume |
OMIM:618185 |
| Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... |
ORPHA:2512 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, S... |
OMIM:615771 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Cortical dysplasia, Abnormal corpus callosum morphology, Abnormality of neuronal migration, Micro... |
OMIM:618709 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Thick cerebral cortex, Lissencephaly, Hypoplasia of the corpus callosum, Periventricular ribbonli... |
OMIM:618677 |
| Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum, Reduced gamma-glutamyltransferase level |
OMIM:231950 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
| Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
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 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra... |
OMIM:604317 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Microcephaly, Partial agenesis of the corpus callosum, S... |
OMIM:616212 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy... |
OMIM:616171 |
| Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Partial agenesis of the corpus callosum, Abnormality of neuronal migrat... |
ORPHA:101030 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Periventricular cysts, Hypoplasia of the corpus callosum, Short corp... |
ORPHA:255138 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence... |
ORPHA:89844 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Abnormality of neuronal migration, Microcephaly |
ORPHA:1980 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Lissencephaly 5 |
|
Subcortical band heterotopia, Porencephalic cyst, Leukoencephalopathy, Gray matter heterotopia, A... |
OMIM:615191 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:164180 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Lissencephaly, Absent septum pellucidum |
OMIM:218670 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morphology |
ORPHA:352682 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... |
OMIM:619602 |
| Symmetrical Thalamic Calcifications |
|
Cerebral calcification, Abnormality of neuronal migration, Microcephaly |
ORPHA:1314 |
| Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
| Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Septo-optic dysplasia, Lissencephaly, Microcephaly |
ORPHA:1528 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
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 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Hemimegalencephaly, Gray matter heterotopia, Hyperintensity of cerebral... |
ORPHA:99802 |
| 3-Hydroxyisobutyric Aciduria |
|
Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly |
OMIM:236795 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular nodular heterotopia, Secondary microcephaly, Perivent... |
OMIM:619737 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2216 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachygyria, Abnormal lactate ... |
ORPHA:899 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Microcephaly, Pachygyria, Abnormal cerebral white matter morphology |
ORPHA:370980 |
| Brain Small Vessel Disease 2 |
|
Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
| Periventricular Nodular Heterotopia 1 |
|
Thin corpus callosum, Gray matter heterotopia, Abnormality of neuronal migration, Hypoplasia of t... |
OMIM:300049 |
| Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Pachygyria, Abnormality of neuronal migration, Abnormal basal ganglia mor... |
ORPHA:157 |
| Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
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 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:207950 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Microcephaly, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, 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 |
|
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... |
OMIM:614643 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of corpus callosum |
OMIM:614402 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microcephaly, Diffuse white matter abnormalities, Gray matter heterotopia, Polymicrogyria, Agenes... |
ORPHA:370959 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Pachygyria, Abnormality of ... |
ORPHA:228308 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus callosum, Elevat... |
OMIM:614924 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2204 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpus cal... |
OMIM:619775 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum |
OMIM:618810 |
| Desmosterolosis |
|
Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachygyria, Abnormality of ne... |
ORPHA:35107 |
| Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:1493 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Cerebral calcification, Microcephaly, Gray matter heterotopia, Lat... |
OMIM:617397 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Thin corpus callosum, Microcephaly |
OMIM:619694 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Abnormal periventricular white matter morphology |
OMIM:615960 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Microcephaly, Focal polymicr... |
OMIM:619103 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia, Cerebral atrophy, Microcephaly |
OMIM:300337 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Periventricular heterotopia, Lateral ventricle dilatation, Hypoplasia of the corpus... |
OMIM:614105 |
| Periventricular Nodular Heterotopia 7 |
|
Cortical dysplasia, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular n... |
OMIM:617201 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Intracerebral periventricular calcifications, Elevated circulating... |
OMIM:608836 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Microcephaly |
OMIM:300957 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:614887 |
| Alg11-Cdg |
|
Elevated hepatic transaminase, Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Gra... |
ORPHA:280071 |
| Cerebrofacioarticular Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the corpus callo... |
ORPHA:314679 |
| 16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Abnormality of neuronal migration, Microcephaly |
ORPHA:261236 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular heterotopia |
OMIM:618974 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:2772 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Microcephaly |
OMIM:617008 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:3307 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hyperintensity of cerebral white matter on MRI, Cerebral calcification, Agenesis of corpus callos... |
OMIM:618476 |
| Developmental And Epileptic Encephalopathy 49 |
|
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly |
OMIM:617281 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Cerebral calcification, Microcephaly, Leukoencephalopathy, Gray matter he... |
OMIM:620024 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Gray matter heterotopia, Calcification of falx cerebri, Hypopl... |
OMIM:603671 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Microcephaly, Periventricular heterotopia, Colpocephaly, Periventricular leukomalacia, Thin corpu... |
OMIM:619833 |
| Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal hypointensity of cerebral white matter on MRI, Periventricular heterotopia, Hypoplastic ant... |
ORPHA:261552 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Pachygyria, Microcephaly, Cortical dysplasia, Simplified gyral patte... |
ORPHA:468631 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Cerebral cortical atrophy, Abnormality of neuronal migration, Microcephaly |
ORPHA:2518 |
| Holoprosencephaly 14 |
|
Absent septum pellucidum, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... |
OMIM:619895 |
| 6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Abnormal... |
ORPHA:75857 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Absent septum pellucidum, Cortical dysplasia, Anencephaly, Gray matter heterotopia, Abnormal cere... |
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 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcep... |
OMIM:605039 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Seco... |
OMIM:618820 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
| 9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:531151 |
| Joubert Syndrome |
|
Polymicrogyria, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:475 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy |
OMIM:618797 |
| Neu-Laxova Syndrome |
|
Cerebral calcification, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachy... |
ORPHA:2671 |
| Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle... |
OMIM:304050 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Temporal lobe dysplasia |
OMIM:187600 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Portal hypertension, Abnormality of neuronal migration, Aplasia/Hy... |
ORPHA:1454 |
| Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2318 |
| Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Hypoplasia of th... |
OMIM:601390 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Abnormality of neuronal migration |
ORPHA:163681 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
| Miller-Dieker Lissencephaly Syndrome |
|
Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus callosum, Cavum se... |
OMIM:247200 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
| Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly, Aplasia/Hypoplasia of the corpus callosum |
OMIM:617822 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Abnormality of neuronal migration, Microcephaly |
ORPHA:2065 |
| 16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Hypoplasia of the corpus callosum, Periventricular heterotopia |
ORPHA:261250 |
| Coffin-Lowry Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia of... |
ORPHA:192 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Microlissencep... |
OMIM:210710 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Gray matter heter... |
OMIM:311200 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still... |
OMIM:236680 |
| Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum |
OMIM:305450 |
| Vici Syndrome |
|
Gray matter heterotopia, Schizencephaly, Agenesis of corpus callosum, Microcephaly |
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 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Prolonged neonatal jaundice, ... |
OMIM:214100 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Gray matter heterotopia, Increased circulating lactate dehydrogena... |
ORPHA:26791 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypop... |
OMIM:615546 |
| Periventricular Nodular Heterotopia 9 |
|
Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular... |
OMIM:618918 |
| 3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
| Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2754 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Orofaciodigital Syndrome Type 14 |
|
Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Hypoplasia of... |
ORPHA:434179 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcep... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcep... |
ORPHA:352665 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy... |
OMIM:615948 |
| Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
| Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
| Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:610443 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Abnormality of neuronal migration, Hypoplasia of the corpus callosum, ... |
ORPHA:464311 |
| Zttk Syndrome |
|
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:453499 |
| Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... |
ORPHA:98889 |
| Genitopatellar Syndrome |
|
Microcephaly, Periventricular heterotopia, Colpocephaly, Pachygyria, Agenesis of corpus callosum,... |
OMIM:606170 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
| Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephaly |
ORPHA:2162 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white matter morphology, ... |
ORPHA:500150 |
| 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 |
|
Diffuse cerebral atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... |
OMIM:270400 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:647 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:3186 |
| Fontaine Progeroid Syndrome |
|
Microcephaly, Periventricular heterotopia, Gray matter heterotopia, Hypoplasia of the corpus call... |
OMIM:612289 |
| Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
| Pagod Syndrome |
|
Abnormality of neuronal migration, Microcephaly |
ORPHA:991 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Focal hypointensity of cerebral white matter on MRI, Periventricular heterotopia, Large basal gan... |
ORPHA:261537 |
| Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
| Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Periventricular heterotopia, Microcephaly, Large basal ganglia, Abnorma... |
ORPHA:2152 |
| Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
