| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dyspl... |
OMIM:604213 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Dysplastic corpus callosum, Decreased head circumference, Abnormal cerebral whi... |
ORPHA:500166 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Hypoplasia of the pons, Agenesis of corpus... |
OMIM:617542 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Ventriculomegaly, Flat occiput, Hypoplasia of the corpus callosum, Agenesi... |
OMIM:608716 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Abnormal cerebral cortex morphology, Ventriculomegaly, Microcephaly, Abnor... |
ORPHA:329228 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Attention deficit hyperactiv... |
OMIM:618709 |
| Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Joint contracture of the hand, Ventriculomegaly, Umbilical hernia, ... |
OMIM:175700 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Macrocephaly, Thick corpus callosum, Megalencephaly |
OMIM:615938 |
| Acalvaria |
|
Calvarial skull defect, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Omphal... |
ORPHA:945 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... |
OMIM:615937 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Retinal dysplasia, Neural tube defect |
OMIM:615041 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Agenesis of corpus callosum, Microcephaly, Macrocephaly, Camptodac... |
OMIM:217990 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morphology, Hypoplasi... |
ORPHA:300570 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Joint contracture of the hand, Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, ... |
OMIM:600638 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Omphalocele |
OMIM:258320 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Aggressive behavior, Attention def... |
OMIM:618286 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... |
ORPHA:171703 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Flexion contracture, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Frontal bossing, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly,... |
ORPHA:1528 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Abnormality of the anterior c... |
ORPHA:572013 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia ... |
OMIM:615763 |
| Band Heterotopia |
|
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus... |
OMIM:600348 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Calvarial skull defect, Enceph... |
ORPHA:1931 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Retinal dysplasia, Focal polymicrogyria, Dysgenesis of the basal ga... |
OMIM:615771 |
| Spastic Paraplegia 88, Autosomal Dominant |
|
Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:620106 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Hypoplasia... |
OMIM:618325 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... |
OMIM:614039 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Brachycep... |
OMIM:620200 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly, Hypoplasia of the brainstem, Death in childhood, Hypoplasia of the corpus callo... |
OMIM:616486 |
| Lissencephaly 1 |
|
Ventriculomegaly, Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hypoplasia, Abn... |
OMIM:607432 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Hypo... |
OMIM:611603 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum, Omphalocele, Platybasia, Frontal bossing, Cloverleaf skull |
ORPHA:93267 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Ventriculomegaly, Arthrogryposis multiplex congenita, Agenesis of corpus c... |
OMIM:619501 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Macrocephaly |
OMIM:303350 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph... |
ORPHA:3207 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... |
OMIM:610031 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic nerve hypoplasia, Dysgenesis of the basal g... |
ORPHA:171680 |
| Microlissencephaly |
|
Lissencephaly, Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Neuronal loss in the ... |
ORPHA:1083 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum, Simplified gyral pattern |
OMIM:617800 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of th... |
OMIM:618730 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Hype... |
OMIM:613402 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Diffuse swelling of cereb... |
OMIM:613925 |
| Schizencephaly |
|
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly, Global brain atrophy, Hypoplasia of the pons |
OMIM:618276 |
| Schisis Association |
|
Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Omphalocele, Anencephaly |
ORPHA:63862 |
| Lissencephaly 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... |
OMIM:614019 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus c... |
OMIM:618677 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
| Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Camptodactyly of finger |
ORPHA:2466 |
| Congenital Hydrocephalus |
|
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Optic atrophy, Macular hypop... |
ORPHA:2185 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Arthrogryposi... |
OMIM:616570 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus callosum, Cereb... |
OMIM:304100 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity |
ORPHA:599373 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... |
ORPHA:250972 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Dea... |
OMIM:613153 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:618736 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus... |
OMIM:618492 |
| Porencephaly |
|
Ventriculomegaly, Porencephalic cyst |
ORPHA:2940 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Abnormal temper tantrums, Hypoplasia of the pons, Dysgenesis... |
ORPHA:300573 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia... |
OMIM:619302 |
| Trisomy 1Q |
|
Ventriculomegaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Agenesis of corpus ca... |
ORPHA:261344 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosu... |
OMIM:619301 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:617090 |
| Donnai-Barrow Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Congenital diaphragmatic hernia, Ret... |
ORPHA:2143 |
| Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly, Cerebral atrophy |
OMIM:612900 |
| Miller-Dieker Syndrome |
|
Lissencephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Omphalocele |
ORPHA:531 |
| Craniosynostosis 6 |
|
Plagiocephaly, Lateral ventricle dilatation, Parietal foramina, Right unilambdoid synostosis, Bic... |
OMIM:616602 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Periventricular cysts, A... |
ORPHA:255182 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly |
OMIM:611808 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Ventriculomegaly, Reduced cerebral white matter volume, Hippocampal atrophy, Aggress... |
OMIM:301107 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Inguinal hernia, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:1568 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele, Absent septum pellucidum, Omphalocele |
OMIM:601357 |
| Bowen-Conradi Syndrome |
|
Microcephaly, Ventriculomegaly, Death in infancy, Camptodactyly of finger |
ORPHA:1270 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelin... |
OMIM:252650 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Ventriculomegaly, Recurrent hand flapping, Hypoplasia of the corpus ca... |
OMIM:617862 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Optic atrophy, Ventriculomegaly, Cerebral atrophy, Scaphocephaly, Periventricular leukomalacia, H... |
OMIM:619701 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Aggressive behavior, Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Ventriculomegaly, Plagiocephaly, Inguinal hernia, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:618603 |
| Donnai-Barrow Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Congenital diaphragmatic hernia, Age... |
OMIM:222448 |
| Trigonocephaly 1 |
|
Microcephaly, Trigonocephaly, Craniosynostosis, Omphalocele |
OMIM:190440 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Hydrocephalus, Ma... |
ORPHA:380 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus c... |
ORPHA:85179 |
| Microhydranencephaly |
|
Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Multiple joint contractures, Self... |
OMIM:605013 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Ventriculomegaly, Alobar holoprosencephaly, Plagiocephaly, Agenesis of corpus callosum, Attention... |
OMIM:615433 |
| Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Ventriculomegaly, Oral-pharyngeal dysph... |
ORPHA:2524 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Microcephaly, Cerebral calcification, Dolichocephaly, Ventriculomegaly |
ORPHA:1261 |
| Triploidy |
|
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Omphalocele, Macrocephaly, Meningocele,... |
ORPHA:3376 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Ventriculomegaly, Plagiocephaly, Retinal dysplasia, Aplasia/Hypoplasia of the corp... |
ORPHA:272 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
| Glycine Encephalopathy 1 |
|
Death in infancy, Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, ... |
OMIM:605899 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Plagiocephaly, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Agene... |
OMIM:618577 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Dandy-Walker malformation |
OMIM:603194 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypoplasia of the brainstem, Frontal bossi... |
OMIM:610828 |
| Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Omphalocele |
ORPHA:3366 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocep... |
ORPHA:324416 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Inguinal h... |
OMIM:619602 |
| Pseudotrisomy 13 Syndrome |
|
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, ... |
OMIM:264480 |
| Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Turricephaly, Agenesis of corpus callosum, Microcephaly, Aqu... |
ORPHA:1496 |
| Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Basal ganglia calcification, Cereb... |
OMIM:617281 |
| Iniencephaly |
|
Lissencephaly, Spinal dysraphism, Myelomeningocele, Abnormal occipital bone morphology, Congenita... |
ORPHA:63259 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Ventriculomegaly, Agyria, Enlarged sylvian cistern |
ORPHA:1084 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Type II lissencephaly, Death in childhood, Hypoplasia of the corpus callosum, Encephalocele, Reti... |
OMIM:614643 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Death in infancy, Agenesis of corp... |
ORPHA:99742 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal p... |
OMIM:616900 |
| Hemimegalencephaly |
|
Optic atrophy, Ventriculomegaly, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hy... |
ORPHA:99802 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Brachyturricephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callo... |
OMIM:218350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Self-injurious behavior, Ventriculomegaly, Aggressive behavior, Frontal cortical atrophy, Brachyc... |
OMIM:300699 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... |
OMIM:207950 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Leukoencephalopathy, Optic atrophy, Ventriculomegaly, Cerebral atrophy, Dilated fourth ventricle,... |
OMIM:620428 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Lissencephaly 8 |
|
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, ... |
OMIM:617255 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pachygyria, Microcephaly, Ventriculomegaly, Pigmentary retinopathy |
OMIM:617613 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Omphalocele |
ORPHA:1756 |
| Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Meningocele,... |
ORPHA:101030 |
| Joubert Syndrome 15 |
|
Retinopathy, Exencephaly, Retinal dystrophy |
OMIM:614464 |
| Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... |
OMIM:307000 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Aggressive behavior, Hyperactivity |
OMIM:615286 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Microcephal... |
OMIM:615219 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpu... |
OMIM:225790 |
| Autosomal Recessive Primary Microcephaly |
|
Ventriculomegaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pac... |
ORPHA:2512 |
| Distal Duplication 15Q |
|
Microcephaly, Omphalocele, Camptodactyly of finger |
ORPHA:1707 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Col... |
OMIM:619955 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Optic atrop... |
OMIM:201000 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Abnormal calvaria morphology, Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the... |
ORPHA:255138 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Ventriculomegaly, Camptodactyly of finger, Inappropriate laughter, Flexion contrac... |
OMIM:619323 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... |
ORPHA:63260 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Corpus callosum ... |
OMIM:620314 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal calvaria morphology, Cerebral calcification, Prominent occiput, Hypoplasia of the corpus... |
ORPHA:89844 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Ventriculomegaly, Global brain atrophy, Death in infancy, Hyperintensity of cerebral white matter... |
OMIM:611722 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Ventriculomegaly, Optic atrophy, Occipital encephalocele, Hyp... |
ORPHA:370959 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Periventricular leukomalaci... |
ORPHA:485350 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Secondary microcephaly, Dilated fourth ventricle, Inguinal hernia, ... |
ORPHA:357058 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dysplastic corpus callosum, Microcepha... |
OMIM:620001 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Cerebral hypoplasia, Reduced cerebral white matter volume, Ventriculomegaly, Hypoplasia of the co... |
OMIM:617977 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Flexion co... |
OMIM:614833 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Brachycephaly, Omphalocele, Flexion contracture |
OMIM:263210 |
| Trisomy 18 |
|
Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Prominent occiput, Congenital... |
ORPHA:3380 |
| Peho-Like Syndrome |
|
Optic atrophy, Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive m... |
OMIM:617507 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexio... |
ORPHA:1692 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Spina bifida, Retinal degeneration |
OMIM:311000 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Hypoplasia of the pons, Hypoplasia of... |
ORPHA:500144 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplastic anterior commissure, Optic atrophy, H... |
OMIM:616975 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corp... |
ORPHA:488627 |
| Narp Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Retinal pigment epithelial mottling, Retinal arterio... |
ORPHA:644 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ventriculomegaly, Bruxism, Inappropriate laughter, Microcephaly, Aggressive behavior, Motor stere... |
OMIM:619150 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly |
OMIM:618383 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:615249 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Hypoplasia of the pons, Hypoplastic o... |
OMIM:617669 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Omphalocele |
OMIM:614450 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Cerebral calcification, Omphalocele |
ORPHA:3035 |
| Opitz Gbbb Syndrome |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Umbilical hernia, Inguinal hernia, Congeni... |
ORPHA:2745 |
| Macdermot-Winter Syndrome |
|
Microcephaly, Ventriculomegaly, Death in infancy, Camptodactyly of finger |
OMIM:247990 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Trigonocephaly, Scaphocephaly, Inguinal hernia, Agenesis of corpus ... |
ORPHA:459061 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum... |
OMIM:619737 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Neonatal deat... |
OMIM:616342 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr... |
ORPHA:2182 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Retinal dystrophy, Abnormal optic ne... |
ORPHA:899 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Optic atrophy, Ventriculomegaly, Cerebral atrophy, Death in childhood, Death in infancy, Hypoplas... |
OMIM:616034 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Ventriculomegaly, Plagiocephaly, Hypoplasia of the brainstem, Umbilical ... |
OMIM:618354 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Ventriculomegaly, Chorioretina... |
ORPHA:163961 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Microcephaly, Aggressive behavior, Overfriendliness |
OMIM:618010 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Ventriculomegaly, Trigonocephaly, Hypoplasia of the corpus callosum, Stereotypical hand wringing,... |
OMIM:619179 |
| Halperin-Birk Syndrome |
|
Optic atrophy, Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Pseudobulbar para... |
OMIM:618651 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... |
OMIM:616362 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Pigmentary retinopathy... |
ORPHA:370968 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Optic atrophy, Ventriculomegaly, Camptodactyly of finger, Death in infancy, Hypoplasia of the cor... |
ORPHA:1495 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Frequent temper tantrums, Inguinal hernia, Microcephaly, Attention deficit hype... |
OMIM:620141 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Death in childhood, Progressive micro... |
OMIM:610333 |
| Bilateral Striopallidodentate Calcinosis |
|
Microcephaly, Cerebral calcification, Ventriculomegaly |
ORPHA:1980 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Congenital contracture, Cerebral atrophy,... |
OMIM:620156 |
| Baraitser-Winter Syndrome 2 |
|
Ventriculomegaly, Secondary microcephaly, Trigonocephaly, Agenesis of corpus callosum, Pachygyria... |
OMIM:614583 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Bruxism, Inappropria... |
OMIM:614254 |
| Lissencephaly 6 With Microcephaly |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Microcephaly, Microlissencep... |
OMIM:616212 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1834 |
| Holoprosencephaly 11 |
|
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
| Pettigrew Syndrome |
|
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Basal gan... |
OMIM:304340 |
| Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:2162 |
| 6Q25 Microdeletion Syndrome |
|
Ventriculomegaly, Plagiocephaly, Camptodactyly of finger, Agenesis of corpus callosum, Microcephaly |
ORPHA:251056 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Agenesis of corpus callosum, Brachycephaly, Hydrocephalus, Macrocephaly |
OMIM:109120 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hernia, Progressive macrocephaly, Hydrocephalus, Cavum septum p... |
OMIM:602501 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... |
ORPHA:79243 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Ventriculomegaly, Knee flexio... |
OMIM:616531 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Umbilical hernia, Prominent occiput, Absent septum pellucidum... |
OMIM:602535 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Optic disc hypoplasia, Frontal bossing, Agenesis of corpus callosum, Microcepha... |
ORPHA:238769 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Hydrocephalus, Omphalocele, Anencephaly |
OMIM:313850 |
| Hsd10 Disease |
|
Optic atrophy, Ventriculomegaly, Frontotemporal cerebral atrophy, Focal white matter lesions, Mic... |
ORPHA:391417 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly |
OMIM:182940 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... |
ORPHA:2166 |
| Congenital Toxoplasmosis |
|
Ventriculomegaly, Cerebral calcification, Abnormality of retinal pigmentation, Microcephaly, Hydr... |
ORPHA:858 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Dysplastic corpus callosum, Microcephaly, Camptodactyly, Flexion contracture |
OMIM:604273 |
| Pentalogy Of Cantrell |
|
Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Anencephaly |
ORPHA:1335 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Trigonocephaly, Ventriculomegaly, Dolichocephaly, Macrocephaly |
ORPHA:168624 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Optic atrophy, Ventriculomegaly, Plagiocephaly, Periventricular leukomal... |
OMIM:619833 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Temporal cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Frontal cortical atrophy, Cau... |
ORPHA:137831 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Ventriculomegaly, Neuronal loss in the cerebral cortex, Agenesis of corpus c... |
ORPHA:168486 |
| 17P13.3 Microduplication Syndrome |
|
Ventriculomegaly, Frontal bossing, Inguinal hernia, Hypoplasia of the corpus callosum |
ORPHA:217385 |
| Chromosome 10Q26 Deletion Syndrome |
|
Microcephaly, Aggressive behavior, Dolichocephaly, Hyperactivity, Omphalocele, Craniosynostosis, ... |
OMIM:609625 |
| Joubert Syndrome 30 |
|
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Dandy-Walker malformation, Retinal... |
OMIM:617622 |
| 3-Hydroxyisobutyric Aciduria |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral ... |
ORPHA:939 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Optic disc coloboma, U... |
OMIM:618454 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Hypoplasia of the pons, Secondary mic... |
OMIM:615809 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephal... |
OMIM:312170 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Abnormal temper tantrums, Ventriculomegaly, Dilated third ventricle, Plagiocephaly, Periventricul... |
ORPHA:500055 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Ventriculomegaly, Inguinal hernia, Macrocephaly |
OMIM:300209 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst... |
ORPHA:101070 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Leukoencephalopathy, Ventriculomegaly, Cerebral calcification, Focal white matter lesions, Microc... |
OMIM:612951 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensi... |
ORPHA:500180 |
| Even-Plus Syndrome |
|
Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum |
OMIM:616854 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum |
OMIM:619111 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:617127 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Inguinal hernia, Hypopla... |
OMIM:247200 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Inappropr... |
ORPHA:85278 |
| Acromelic Frontonasal Dysplasia |
|
Ventriculomegaly, Hypoplasia of the olfactory bulb, Encephalocele, Midline central nervous system... |
ORPHA:1827 |
| Nasu-Hakola Disease |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Disinhibition, Hydrocephalus... |
ORPHA:2770 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Thickened calvaria, Hydrocephalus, Omphalocele, Macrocephaly, Camp... |
OMIM:300373 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Ventriculomegaly, Microcephaly, Macrocephaly, Frontal bos... |
OMIM:613638 |
| Fryns Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Congenital diaphragmatic hernia, Agenesis of corpus ... |
ORPHA:2059 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ... |
ORPHA:467166 |
| Pagod Syndrome |
|
Optic atrophy, Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Microcephaly, Sp... |
ORPHA:991 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele |
ORPHA:1263 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Dolichocephaly, Relative macrocephaly, Prominent occiput, Omphalocele |
OMIM:617895 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Meningocele, Agene... |
OMIM:611134 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Overfriendliness, Microcephaly, Polyphagia, Attention deficit hyperactivity disorder, Spina bifid... |
OMIM:620439 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Retinal dysplasia, Hypoplasia of the po... |
OMIM:613154 |
| Developmental And Epileptic Encephalopathy 70 |
|
Cerebral cortical atrophy, Flexion contracture, Microcephaly, Ventriculomegaly |
OMIM:618298 |
| Short-Rib Thoracic Dysplasia 12 |
|
Inguinal hernia, Neonatal death, Hydrocephalus, Omphalocele, Macrocephaly, Holoprosencephaly, Ane... |
OMIM:269860 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Microcephaly, Ventriculomegaly, Abnormality of retinal pigmentation |
ORPHA:2515 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Polymicrogyria, Macrocephaly, Hypoplasia of the corpus callosum, Knee flexion c... |
OMIM:603387 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Periventricular c... |
ORPHA:544488 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Lateral ventricle dilatation, Dilated fourth ventricle, Abnormal periventricula... |
OMIM:613443 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Optic disc hypoplasia, Hypoplasia ... |
ORPHA:420179 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Ventriculomegaly, Hypoplasia of the pons, Cerebellar hypoplasia, Microcephaly |
OMIM:613151 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Joint contracture of the hand, Inguinal hernia, Spina bifida |
OMIM:211960 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasi... |
ORPHA:1908 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dila... |
OMIM:618291 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Ventriculomegaly, Scaphocephaly, Motor stereotypy, Macrocephaly, Dolicho... |
OMIM:615637 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Aggressive behavior, Hyperacti... |
ORPHA:457260 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida, Gastroschisis |
ORPHA:2476 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Abnormal basal ganglia morphology... |
ORPHA:25 |
| Auriculocondylar Syndrome 2B |
|
Hypoplasia of the corpus callosum, Omphalocele |
OMIM:620458 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... |
OMIM:619244 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Macrocephaly |
OMIM:618316 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebral atrophy, Death in childhood, Hypoplasia of the corpus callosum, Neonatal death, Omphaloc... |
OMIM:619124 |
| Temtamy Syndrome |
|
Ventriculomegaly, Chorioretinal coloboma, Self-mutilation, Agenesis of corpus callosum, Thick cor... |
OMIM:218340 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventriculomegaly, Plagiocephaly, Polymicrogyria, Umbilical hernia, Hypoplasia of the brainstem, A... |
ORPHA:500159 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, M... |
OMIM:617493 |
| Developmental And Epileptic Encephalopathy 31B |
|
Optic atrophy, Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Ag... |
OMIM:620352 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Ventriculomegaly, Elbow flexion contracture, Basal ganglia calcifi... |
OMIM:214150 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Proboscis, Macrocephaly, Absent septum pellucidum, Mi... |
OMIM:619895 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Skull asymmetry, Diastasis recti, Microcep... |
OMIM:257920 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Ventriculomegaly, Abnormal periventricular white matter morphology, Hypoplasia of the corpus call... |
OMIM:614066 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy |
OMIM:619423 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:887 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebral white matter atrophy, Microce... |
ORPHA:79321 |
| Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Ventriculomegaly, Occipital encephalocele, Camptodactyly of finger, Dilated ... |
OMIM:249000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Myelomeningocele, Encephalocele, Cerebellar hypoplasia, Thickened calvar... |
ORPHA:90652 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Ventriculomegaly, Congenital contracture, Occipital encephalocele, Polymicrogyria,... |
OMIM:236670 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Optic dis... |
ORPHA:468631 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Congenital contracture, Hypoplasia of the brainstem, Type II lissencephaly, Enc... |
OMIM:613150 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Unicoronal synostosis, Encephalocele, Cerebellar hypoplasia, Omphalocele, Stillbirth, Relative ma... |
OMIM:616300 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Ventriculomegaly, Frontal bossing, Agenesis of corpus callosum, Cerebell... |
ORPHA:238750 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus callosum, Attention defi... |
OMIM:609757 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Holoprosencephaly, Retinal dysplasia, Polymicrogyria, Type II lissencephaly, Hypop... |
OMIM:253800 |
| Snijders Blok-Campeau Syndrome |
|
Ventriculomegaly, Umbilical hernia, Frontal bossing, Inguinal hernia, Attention deficit hyperacti... |
OMIM:618205 |
| Humero-Radial Synostosis |
|
Microcephaly, Meningocele, Chorioretinal coloboma |
ORPHA:3265 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Retinal neovascularization, Cavum septum pellucid... |
OMIM:619074 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Ventriculomegaly, Cerebral atrophy, Recurrent hand flapping, Abnormal ce... |
OMIM:617268 |
| Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Chorioretinal coloboma, Abnormality of retinal pigmentation, Death in infancy, ... |
ORPHA:2481 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Omphalocele, S... |
OMIM:236680 |
| Focal Dermal Hypoplasia |
|
Chorioretinal coloboma, Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphol... |
ORPHA:2092 |
| Muscle-Eye-Brain Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventriculomegaly, Secondary microcephaly, Death in infancy, Neonatal death, Cerebellar hypoplasia... |
OMIM:613730 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Ventriculomegaly, Cerebral calcification, Inappropriate laughter, Agenesis of corp... |
OMIM:618476 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... |
OMIM:619103 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Aggressive behavior, Brachycep... |
OMIM:300958 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Hypoplasia of the pons, Cerebellar hy... |
OMIM:619527 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventriculomegaly, Death in infancy, Agenesis of corpus callosum, Microcephaly, Pachygyria |
ORPHA:452 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Retinal dysplasia, Occipital encephalocele, Hypoplasia of the brainstem, Type I... |
OMIM:615287 |
| Trisomy 5P |
|
Dolichocephaly, Ventriculomegaly, Frontal bossing, Macrocephaly |
ORPHA:1742 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Pigmentary retinopathy... |
OMIM:613156 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Brachycephaly, Pachygyria... |
ORPHA:2211 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Camptodactyly, Relative macrocephaly, Frontal bossing |
OMIM:618529 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Microcephaly, Ventriculomegaly, Cortical dysplasia |
ORPHA:319199 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Microcephaly, Spina bifida |
ORPHA:64754 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the brainstem, De... |
OMIM:612389 |
| Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Ventriculomegaly, Plagiocephaly, Cerebral atrophy |
OMIM:618008 |
| Developmental And Epileptic Encephalopathy 99 |
|
Ventriculomegaly, Frontotemporal cerebral atrophy, Microcephaly, Thick corpus callosum, Thin corp... |
OMIM:619606 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Omphalocele, Flexion contracture, Frontal bossing |
OMIM:608149 |
| Kohlschutter-Tonz Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Amelogenesis imperfecta,... |
OMIM:226750 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Ventriculomegaly, Cerebral atrophy, Microcephaly, Flexion contracture, Thin corpus callosum |
OMIM:619851 |
| Curry-Jones Syndrome |
|
Ventriculomegaly, Unicoronal synostosis, Polymicrogyria, Hemimegalencephaly, Bicoronal synostosis... |
OMIM:601707 |
| 5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebe... |
ORPHA:228384 |
| Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Encephalocele, Hydrocephalus, Macrocephaly, Holoprosencephaly, Frontal bossing,... |
ORPHA:93274 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly, Plagiocephaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Ventriculomegaly, Plagiocephaly, Umbilical hernia, Inguinal hernia, Hypo... |
ORPHA:261652 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Abnormal dental enamel morphology, Inguinal hernia, Agenesis of corpus callosum... |
ORPHA:1812 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Diastasis recti, Omphalocele, Umbilical hernia |
ORPHA:254534 |
| Developmental And Epileptic Encephalopathy 54 |
|
Microcephaly, Ventriculomegaly |
OMIM:617391 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Rod-cone dystrophy, Diastasis recti, Omphalocele, Agenesis of corpus callosum |
OMIM:618419 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Leukoencephalopathy, Cervical myelopathy, Ventriculomegaly, Global brain atrophy, Myelopathy, Dea... |
OMIM:617186 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Desmosterolosis |
|
Joint contracture of the hand, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Front... |
OMIM:602398 |
| Developmental And Epileptic Encephalopathy 1 |
|
Ventriculomegaly, Global brain atrophy, Plagiocephaly, Microcephaly, Dysphagia |
OMIM:308350 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Optic atrophy, Dilated third ventricle, Lateral ventricle dilatatio... |
OMIM:304050 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Plagiocephaly, Agenesi... |
OMIM:619720 |
| Smith-Kingsmore Syndrome |
|
Ventriculomegaly, Reduced cerebral white matter volume, Umbilical hernia, Hemimegalencephaly, Dia... |
OMIM:616638 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Sagittal craniosynostosis, Omphalocele, Frontal bossing |
OMIM:145420 |
| Baraitser-Winter Syndrome 1 |
|
Ventriculomegaly, Chorioretinal coloboma, Trigonocephaly, Agenesis of corpus callosum, Microcepha... |
OMIM:243310 |
| C Syndrome |
|
Microcephaly, Trigonocephaly, Omphalocele |
OMIM:211750 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Ventriculomegaly, Agenesis of corpus callosum, Brachycephaly,... |
OMIM:218000 |
| Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Microcephaly, Ventriculomegaly, Cerebral atrophy |
OMIM:617051 |
| Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Retinal coloboma, Macrocephaly, P... |
OMIM:619775 |
| Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Morning glory anomaly, ... |
OMIM:614424 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Optic atrop... |
OMIM:617807 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Ventriculomegaly, Absent septum pellucidum, Inguinal hernia, Agenesis ... |
ORPHA:96147 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Ventriculomegaly, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus callo... |
OMIM:615330 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressive ... |
OMIM:615760 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Camptodactyly of finger, Prominent occiput, Inguinal hernia, Congenital diaphra... |
ORPHA:2311 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... |
ORPHA:397715 |
| Cerebrofacioarticular Syndrome |
|
Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus... |
ORPHA:314679 |
| Focal Dermal Hypoplasia |
|
Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Myelomeningocele, Diastasis recti, Ingui... |
OMIM:305600 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Ventriculomegaly, Inguinal hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... |
OMIM:613735 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Schizencephaly, Porencephalic cyst, Polymicrogyria |
OMIM:614483 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Achilles tendon contra... |
ORPHA:370980 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Omphalocele |
ORPHA:2736 |
| Macrocephaly, Benign Familial |
|
Ventriculomegaly, Frontal bossing, Macrocephaly, Dolichocephaly, Biparietal narrowing |
OMIM:153470 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Diastasis recti, Inguinal hernia, Wrist flexion contracture, Fl... |
ORPHA:254528 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Elbow flexion contracture, Inguinal hernia, Knee fle... |
OMIM:151050 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Omphalocele, Stillbirth, Camptodactyly, Frontal bossing |
OMIM:228520 |
| Lissencephaly, X-Linked, 2 |
|
Pachygyria, Ventriculomegaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:300215 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Ventriculomegaly, Optic disc coloboma, Agenesis of corpus callosum |
ORPHA:1553 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Bruxism, Hypoplasia of the ... |
OMIM:618004 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Plagiocephaly, Inguinal hernia, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:457284 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Plagiocephaly, Retinal dysplasia,... |
OMIM:213300 |
| Codas Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Enamel hypoplasia, Omphalocele, Broad skull |
OMIM:600373 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Trigonocephaly, Ventriculomegaly, Primary microcephaly, Simplified gyral pattern |
OMIM:619180 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Neonatal death |
OMIM:618810 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Death in adolescence, Microcephaly, Ventriculomegaly, Pigmentary retinopathy |
OMIM:619059 |
| Simpson-Golabi-Behmel Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Agen... |
ORPHA:373 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasi... |
OMIM:616538 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Cerebellar hypoplasi... |
OMIM:618273 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Retinal coloboma, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Enamel hypoplasia, Focal white matter lesions |
ORPHA:557003 |
| 16P13.11 Microdeletion Syndrome |
|
Self-injurious behavior, Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum, ... |
ORPHA:261236 |
| Galloway-Mowat Syndrome 5 |
|
Pachygyria, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly |
OMIM:617731 |
| 1P31P32 Microdeletion Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Attention deficit hyperactivity diso... |
ORPHA:401986 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Optic atrophy, Ventriculomegaly, Polymicrogyria, Aplasia/Hypoplasia of the cerebellum, Hydrocepha... |
ORPHA:60040 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Brachycephaly, Papilledema, Omphalocele |
ORPHA:371428 |
| Peho Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Optic atrophy, Porencephalic cyst, Microcephaly, Bip... |
ORPHA:2836 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:617914 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Ventriculomegaly, Elbow flexion contracture, Trigonocephaly, Hypoplasia of the cor... |
OMIM:617301 |
| Otopalatodigital Syndrome, Type I |
|
Prominent occiput, Frontal bossing, Omphalocele |
OMIM:311300 |
| Juvenile Huntington Disease |
|
Ventriculomegaly, Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology, Hype... |
ORPHA:248111 |
| Cloacal Exstrophy |
|
Myelomeningocele, Cloacal exstrophy, Spina bifida, Omphalocele, Bladder exstrophy |
ORPHA:93929 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Ventriculomegaly, Elbow contracture, Microcephaly, Abnormal cerebral white matter morphology, Ach... |
OMIM:606612 |
| Fryns Syndrome |
|
Joint contracture of the hand, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory... |
OMIM:229850 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Microcephaly, Brachycephaly, Spina bifida, Camptodactyly of finger |
ORPHA:1327 |
| Chromosome 9P Deletion Syndrome |
|
Trigonocephaly, Inguinal hernia, Omphalocele |
OMIM:158170 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Prune belly, Omphalocele |
OMIM:601389 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Ventriculomegaly, Motor stereotypy, Hypoplasia of the corpus callosum |
ORPHA:85277 |
| Exstrophy-Epispadias Complex |
|
Abdominal wall defect, Cystocele, Inguinal hernia, Cloacal exstrophy, Microcephaly, Abnormality o... |
ORPHA:322 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Frontal bossing, Omphalocele |
ORPHA:2484 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Diffuse white matter abnormalities, Ventriculomegaly, Optic atrophy, Abnormal periventricular whi... |
ORPHA:466934 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Optic atrophy, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of the corpus callosum,... |
OMIM:618547 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Parietal foramina, Myelomeningocele, Encephalomalacia, Craniosynostosis |
ORPHA:60015 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Aggressive behavior, Abnorma... |
OMIM:300354 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia, Fro... |
OMIM:606854 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary microcephaly, Hypoplasia... |
ORPHA:261552 |
| Optic Atrophy 11 |
|
Leukoencephalopathy, Optic atrophy, Ventriculomegaly, Cherry red spot of the macula, Stereotypica... |
OMIM:617302 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Cerebral atrophy, Hypoplasia of the ... |
OMIM:614576 |
| Emanuel Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Inguinal hernia, Congenital diaphragmatic hernia, Agenesis of... |
ORPHA:96170 |
| Kagami-Ogata Syndrome |
|
Frontal bossing, Large placenta, Diastasis recti, Inguinal hernia, Omphalocele, Dysphagia |
ORPHA:254519 |
| Linear Verrucous Nevus Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Retinopathy, Aplasia/Hypoplasia of t... |
ORPHA:2611 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Ventriculomegaly, Bruxism, Microcephaly, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:618342 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Self-injurious behavior |
OMIM:619922 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Ventriculomegaly, Meningocele, Biparietal narrowing, Chorioretinal coloboma |
ORPHA:2031 |
| Xq12-Q13.3 Duplication Syndrome |
|
Ventriculomegaly, Bulimia, Hypoplasia of the corpus callosum, Microcephaly, Optic disc pallor, Ab... |
ORPHA:314389 |
| Thanatophoric Dysplasia, Type Ii |
|
Ventriculomegaly, Neonatal death, Cerebellar hypoplasia, Temporal lobe dysplasia, Frontal bossing... |
OMIM:187601 |
| Rasmussen Subacute Encephalitis |
|
Ventriculomegaly, Global brain atrophy, Focal cortical dysplasia, Abnormal basal ganglia morpholo... |
ORPHA:1929 |
| Congenital Disorder Of Glycosylation, Type If |
|
Optic atrophy, Ventriculomegaly, Cerebral atrophy, Death in infancy, Microcephaly, Parietal bossi... |
OMIM:609180 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Cortical dysplasia, Hypoplasia of the corpus callosum, Agenesis of corpus ca... |
OMIM:613001 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Attention deficit hyperactivity disorder |
OMIM:619556 |
| Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Hypoplasia of the corpus callosum, Microcephaly, Aggressive behavior, Me... |
OMIM:620511 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Pro... |
ORPHA:93932 |
| Fumarase Deficiency |
|
Optic atrophy, Ventriculomegaly, Open operculum, Cerebral atrophy, Polymicrogyria, Hypoplasia of ... |
OMIM:606812 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Calvarial skull defe... |
ORPHA:1647 |
| Apert Syndrome |
|
Optic atrophy, Ventriculomegaly, Brachyturricephaly, Absent septum pellucidum, Agenesis of corpus... |
ORPHA:87 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Ventriculomegaly, Corticospinal tract hypoplasia, Aplasia/Hypoplasia of ... |
ORPHA:819 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Secondary microcephaly, Optic atrophy, Ventriculomegaly |
OMIM:618241 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Camptodactyly, Ventriculomegaly, Dysplastic corpus callosum, Mild microcephaly |
ORPHA:363444 |
| Desmosterolosis |
|
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ... |
ORPHA:35107 |
| Charge Syndrome |
|
Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Microcephaly, Attention deficit hyperact... |
ORPHA:138 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Joubert Syndrome 9 |
|
Ventriculomegaly, Encephalocele, Retinal dystrophy |
OMIM:612285 |
| Pyruvate Dehydrogenase Deficiency |
|
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Trigonocephaly, Microcephaly, Multip... |
ORPHA:765 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Hydrocephalus, Macrocephaly, Frontal bossing, Cloverleaf skull |
ORPHA:2655 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, Thin calvarium, Hydrocephalus, Spina bifida, Spina bifida occulta, Posterolater... |
ORPHA:2437 |
| 3C Syndrome |
|
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Prominent occiput, Inguinal hernia, Deat... |
ORPHA:7 |
| Lipoyltransferase 1 Deficiency |
|
Ventriculomegaly, Abnormal cerebral white matter morphology, Death in infancy |
OMIM:616299 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Plagiocephaly, Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Turricephal... |
OMIM:613776 |
| Constricting Bands, Congenital |
|
Encephalocele, Omphalocele, Bladder exstrophy, Gastroschisis |
OMIM:217100 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Enamel hypoplasia, Death in childhood, Omphalocele |
OMIM:243150 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum |
OMIM:618569 |
| Alkuraya-Kucinskas Syndrome |
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Ventriculomegaly, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the bra... |
OMIM:617822 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
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Ventriculomegaly, Trigonocephaly, Congenital diaphragmatic hernia, Cerebellar hypoplasia, Microce... |
OMIM:612530 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Spinal dysraphism, Plagiocephaly, Interphalangeal joint contracture of finger, Large placenta, Di... |
ORPHA:96334 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Decreased calvarial ossific... |
ORPHA:2772 |
| Smith-Magenis Syndrome |
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Ventriculomegaly, Head-banging, Onychotillomania, Self-mutilation, Brachycephaly, Retinal detachm... |
OMIM:182290 |
| Rere-Related Neurodevelopmental Syndrome |
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Self-injurious behavior, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic atrophy, Chorioret... |
ORPHA:494344 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Microcephaly, Holoprosencephaly, Omphalocele |
ORPHA:3186 |
| Bladder Exstrophy |
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Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia |
ORPHA:93930 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Ventriculomegaly, Global brain atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus cal... |
OMIM:301056 |
| Tatton-Brown-Rahman Syndrome |
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Ventriculomegaly, Umbilical hernia, Sagittal craniosynostosis, Encephalomalacia, Macrocephaly, Op... |
OMIM:615879 |
| Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
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Self-injurious behavior, Abnormal temper tantrums, Ventriculomegaly, Hypoplasia of the corpus cal... |
ORPHA:404473 |
| Asparagine Synthetase Deficiency |
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Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Global brai... |
OMIM:615574 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Leukoencephalopathy, Optic atrophy, Ventriculomegaly, Cerebral atrophy, Diffuse cerebral atrophy,... |
OMIM:617710 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Abnormal corpus callosum morphology, Ventriculomegaly, Polymicrogyria, Diastasis recti, Hyperacti... |
ORPHA:457485 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Omphalocele |
OMIM:601927 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Cerebral cortical atrophy, Camptodactyly of finger, Abnormal dental enamel morphology, Frontal bo... |
ORPHA:2273 |
| Spastic Paraplegia 50, Autosomal Recessive |
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Microcephaly, Ventriculomegaly, Optic disc pallor, Hypoplasia of the corpus callosum |
OMIM:612936 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
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Ventriculomegaly, Primary microcephaly |
ORPHA:2172 |
| Non-Syndromic Posterior Hypospadias |
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Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
| Fibrochondrogenesis |
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Plagiocephaly, Omphalocele, Camptodactyly of finger |
ORPHA:2021 |
| Aicardi Syndrome |
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Optic atrophy, Ventriculomegaly, Plagiocephaly, Chorioretinal coloboma, Polymicrogyria, Optic dis... |
ORPHA:50 |
| Pontocerebellar Hypoplasia, Type 2E |
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Optic atrophy, Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corp... |
OMIM:615851 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
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