Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:615411 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Lissencephaly 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:607432 |
Sub-Cortical Nodular Heterotopia |
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Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
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Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Lissencephaly 3 |
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Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy... |
OMIM:611603 |
Microlissencephaly |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... |
ORPHA:1083 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Pol... |
OMIM:604213 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
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Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
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Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Band Heterotopia |
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Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopi... |
OMIM:600348 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... |
OMIM:604317 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
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Neonatal death, Abnormal cortical gyration, Polymicrogyria |
OMIM:619602 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormality of neuronal migration |
OMIM:618709 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Type II lissencephaly, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
Polymicrogyria Due To Tubb2B Mutation |
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Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... |
ORPHA:300573 |
Bilateral Striopallidodentate Calcinosis |
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Abnormality of neuronal migration |
ORPHA:1980 |
Autosomal Recessive Primary Microcephaly |
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Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria |
ORPHA:2512 |
Lissencephaly 6 With Microcephaly |
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Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Partial agenesis of ... |
OMIM:616212 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Subependymal Nodular Heterotopia |
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Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray matter heterotop... |
ORPHA:101030 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern |
OMIM:616171 |
Glutathionuria |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
Brain Small Vessel Disease 2 |
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Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Lissencephaly 5 |
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Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615191 |
Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Abnormality of neuronal migration, Microlissencephaly, Agenesis of corpus callosum, 4-layered lis... |
ORPHA:89844 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria |
OMIM:617622 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Abnormality of neuronal migration |
ORPHA:2204 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
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Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
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Periventricular heterotopia, Simplified gyral pattern |
OMIM:618273 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Leber Congenital Amaurosis |
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Abnormality of neuronal migration |
ORPHA:65 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Partial agenesis of the corpus callosum, Pachygyria, Subco... |
OMIM:614643 |
Periventricular Nodular Heterotopia 7 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Walker-Warburg Syndrome |
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Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... |
ORPHA:899 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Agenesis of corpus callosum, Colpocephaly, Gray matter heterotopia, Lissencephaly, Simplified gyr... |
OMIM:615219 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia, Agenesis of corpus callosum |
ORPHA:255138 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Type II lissencephaly, Agenesis of corpus callosum, Gray matter heterotopia, Polymicrogyria |
ORPHA:370959 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Desmosterolosis |
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Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal ... |
ORPHA:35107 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:207950 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Gray matter heterotopia, Neonatal death, Polymicrogyria |
OMIM:614887 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:2211 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Lateral ventricle dilatation |
OMIM:614105 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:157 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria |
OMIM:619775 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:1493 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death |
OMIM:187600 |
Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... |
OMIM:601390 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:2671 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria |
ORPHA:2065 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria |
OMIM:608836 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:228308 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Periventricular heterotopia |
OMIM:619833 |
3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Agenesis of corpus callosum |
ORPHA:261236 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria, Neonatal death |
OMIM:620024 |
6Q Terminal Deletion Syndrome |
|
Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra... |
ORPHA:75857 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618929 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration |
ORPHA:2318 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum |
ORPHA:314679 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:605039 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Gray matter heterotopia |
OMIM:620475 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618476 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618733 |
Galloway-Mowat Syndrome 1 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:251300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachygyria, Lissencepha... |
ORPHA:468631 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration |
ORPHA:1454 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Aicardi Syndrome |
|
Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... |
OMIM:618820 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:619895 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Lateral ventricle dilatation, Pachygyria, Polymicrogyria, Agenesis of... |
OMIM:210710 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum |
OMIM:305450 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Gray matter heterotopia |
OMIM:620654 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum |
OMIM:311200 |
Holoprosencephaly |
|
Abnormality of neuronal migration |
ORPHA:2162 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum |
OMIM:603671 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:352665 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth |
OMIM:236680 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:615287 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Neonatal death |
OMIM:612289 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
Orofaciodigital Syndrome Xiv |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia, P... |
OMIM:615948 |
Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:270400 |
Genitopatellar Syndrome |
|
Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilatation, Polymicro... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia, Polymicrogyria |
ORPHA:2152 |