Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Ventriculomegaly, Decrease... |
ORPHA:500166 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus... |
OMIM:617542 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Microcephaly, Abnormal neuron morphology, Abnormal cerebral morphology, Ve... |
ORPHA:329228 |
Band Heterotopia |
|
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agen... |
OMIM:600348 |
Acalvaria |
|
Hydrocephalus, Calvarial skull defect, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, O... |
ORPHA:945 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Macrocephaly, Polymicrogyria, Ventriculomegaly, Megalencephaly |
OMIM:615938 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Macrocephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Ventriculomegaly,... |
OMIM:615937 |
Spastic Paraplegia 45, Autosomal Recessive |
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Optic atrophy, Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum |
OMIM:613162 |
Corpus Callosum, Agenesis Of |
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Macrocephaly, Joint contracture of the hand, Microcephaly, Camptodactyly, Frontal bossing, Agenes... |
OMIM:217990 |
Genitourinary And/Or Brain Malformation Syndrome |
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Acrania, Dysplastic corpus callosum, Macrocephaly, Holoprosencephaly, Agenesis of corpus callosum... |
OMIM:618820 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Hydrocephalus, Macrocephaly, Microcephaly, Cortical dysplasia, Ventriculomegaly, Abnormal corpus ... |
OMIM:618709 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Hydrocephalus, Death in infancy, Omphalocele |
OMIM:258320 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... |
ORPHA:171703 |
Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... |
OMIM:611603 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Macrocephaly, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primary mic... |
ORPHA:300570 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Craniosynostosis, Microcephaly, Arrhinencephaly, Agenesis of corpus callosum, Cere... |
ORPHA:1528 |
Frontal Encephalocele |
|
Hydrocephalus, Calvarial skull defect, Macrocephaly, Cerebral calcification, Dolichocephaly, Ence... |
ORPHA:1931 |
Masa Syndrome |
|
Hydrocephalus, Macrocephaly, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:303350 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
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Death in childhood, Microcephaly, Death in adolescence, Cerebellar hypoplasia, Hypoplasia of the ... |
OMIM:616486 |
Lissencephaly 1 |
|
Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Ventricu... |
OMIM:607432 |
Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Ventricul... |
OMIM:619501 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, V... |
ORPHA:3207 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Cortical dysplasia, Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern... |
OMIM:615763 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Omphalocele, Cloverleaf skull, Platybasia, Agenesis of corpus callosum |
ORPHA:93267 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the pons, Optic atrophy, Ventriculomegaly,... |
OMIM:617669 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus call... |
OMIM:300864 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Microlissencephaly |
|
Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t... |
ORPHA:1083 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebral atrophy, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Lissencephaly,... |
OMIM:618730 |
Microcephaly 19, Primary, Autosomal Recessive |
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Simplified gyral pattern, Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617800 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Diffuse swelling of cerebral white matter, Macrocephaly, Cerebral atrophy, Dysphagia, Ventriculom... |
OMIM:613925 |
Schisis Association |
|
Congenital diaphragmatic hernia, Microcephaly, Anencephaly, Omphalocele, Encephalocele, Spina bifida |
ORPHA:63862 |
Masa Syndrome |
|
Camptodactyly of finger, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2466 |
Congenital Hydrocephalus |
|
Hydrocephalus, Macrocephaly, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Fr... |
ORPHA:2185 |
Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Thick cerebral ... |
OMIM:618677 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum, Macular degeneration, Death in infancy |
ORPHA:85334 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the pons, Global brain atrophy |
OMIM:618276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Retinal detachment, Hypoplasia of the pons, Cerebellar hypopla... |
OMIM:613153 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:617051 |
Trigonocephaly 1 |
|
Microcephaly, Trigonocephaly, Omphalocele, Craniosynostosis |
OMIM:190440 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Microcephaly 17, Primary, Autosomal Recessive |
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Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Simplified gyral pattern, Microlissencepha... |
OMIM:617090 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Cerebral calcification, Microcephaly, Optic atrophy, Frontal bossing, Ventriculome... |
OMIM:617281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Flexion contracture, Hypoplasia of the pons, Type II lissencephaly, Optic atrophy,... |
OMIM:613154 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Ventriculomegaly, Chorioretinal coloboma |
ORPHA:2732 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Flexion contracture, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydran... |
OMIM:225790 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Holoprosencephaly 7 |
|
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Parietal bossing, Holoprosencephaly, Parti... |
OMIM:610828 |
Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... |
OMIM:614019 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Porencephaly |
|
Porencephalic cyst, Ventriculomegaly |
ORPHA:2940 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Do... |
OMIM:175700 |
Trisomy 1Q |
|
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Camptodactyly of finger, Cerebellar... |
ORPHA:261344 |
Microcephaly, Seizures, And Developmental Delay |
|
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Simp... |
OMIM:613402 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Macrocephaly, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Flat occiput,... |
OMIM:618736 |
Donnai-Barrow Syndrome |
|
Macrocephaly, Congenital diaphragmatic hernia, Retinal detachment, Retinal dystrophy, Partial age... |
OMIM:222448 |
Bowen-Conradi Syndrome |
|
Microcephaly, Ventriculomegaly, Camptodactyly of finger, Death in infancy |
ORPHA:1270 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:255182 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Cerebral atrophy, Ventriculomegaly |
OMIM:612900 |
Miller-Dieker Syndrome |
|
Omphalocele, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Lissencephaly |
ORPHA:531 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Macrocephaly, Cerebral cortical atrophy, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, V... |
ORPHA:1568 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Microcephaly, Ventriculomegaly, Arthrogryposis multiplex congenita, Simplifi... |
OMIM:618397 |
Amish Lethal Microcephaly |
|
Microcephaly, Optic atrophy, Cerebellar vermis hypoplasia, Lissencephaly, Ventriculomegaly, Death... |
ORPHA:99742 |
Donnai-Barrow Syndrome |
|
Macrocephaly, Congenital diaphragmatic hernia, Retinal detachment, Retinal dystrophy, Omphalocele... |
ORPHA:2143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Retinal dysplasia, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Optic n... |
OMIM:615287 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy, Ventricul... |
ORPHA:85179 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... |
OMIM:619302 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Craniosynostosis, Optic nerve hypoplasia, Frontal encephalocele, Arrhin... |
OMIM:218670 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Absent septum pellucidum, Anterior encephalocele, Holoprosencephaly |
OMIM:601357 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Retinal degeneration, Microcephaly, Optic at... |
OMIM:252650 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
Bonnemann-Meinecke-Reich Syndrome |
|
Cerebral calcification, Microcephaly, Ventriculomegaly, Dolichocephaly |
ORPHA:1261 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly, Retinal dysplasia |
OMIM:614830 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Ventricu... |
OMIM:618577 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Inguinal hernia, Microcephaly, Hypoplasia of the corpus callosum, Abnormal globus ... |
OMIM:618603 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Craniosynostosis, Frontal bossing, ... |
ORPHA:380 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Plagiocephaly, Flexion contracture, Dolichocephaly, Camptodactyly of finger, Type ... |
ORPHA:272 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Death in childhood, Optic atro... |
OMIM:618766 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Macrocephaly, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker m... |
OMIM:617967 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventriculomegal... |
OMIM:619701 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Macrocephaly at birth, Type II lissencephaly, Ventriculomegaly, Occipital encephal... |
ORPHA:324416 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Ventriculomegaly, Brachycephaly, Agenesi... |
OMIM:615433 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Brachyturricephaly, Hypoplasia of the corpus callosum, Frontal bossing, Ventriculo... |
OMIM:218350 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus, Omphalocele |
OMIM:236640 |
Craniosynostosis 6 |
|
Plagiocephaly, Craniosynostosis, Microcephaly, Spina bifida occulta, Turricephaly, Brachycephaly,... |
OMIM:616602 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Inguinal hernia, Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasi... |
OMIM:619602 |
Non-Syndromic Metopic Craniosynostosis |
|
Trigonocephaly, Omphalocele |
ORPHA:3366 |
Hemimegalencephaly |
|
Macrocephaly, Cranial asymmetry, Polymicrogyria, Abnormal neuron morphology, Optic atrophy, Ventr... |
ORPHA:99802 |
Microhydranencephaly |
|
Multiple joint contractures, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Pachygyria, H... |
OMIM:605013 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Agyria, Pachygyria, Ventriculomegaly |
ORPHA:1084 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Omphalocel... |
OMIM:264480 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Progressive microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus c... |
OMIM:617862 |
Triploidy |
|
Hydrocephalus, Macrocephaly, Holoprosencephaly, Omphalocele, Meningocele, Aplasia/Hypoplasia of t... |
ORPHA:3376 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventri... |
ORPHA:262767 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Omphalocele, Meningocele, Encephalocele, Dandy-Walker malformation |
OMIM:603194 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Dysplastic corpus callosum, Impaired oropharyngeal swallow response,... |
ORPHA:2524 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Microcephaly, Basal ganglia cysts, Frontal bossing, Ventriculomegaly, Agenesis ... |
OMIM:312170 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Dandy-Walker malformation, Holo... |
ORPHA:63259 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Cerebral hypoplasia, Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Ventri... |
OMIM:617977 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Aqueductal stenosis, Craniosynostosis, Microcephaly, Turrice... |
ORPHA:1496 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Microcephaly, Ventriculomegaly, Pachygyria |
OMIM:617613 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Hydrocephalus, Macrocephaly, Aqueductal stenosis, Absent septum pel... |
OMIM:307000 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Macrocephaly, Flexion contracture, Cerebellar hypoplasia, Polymicrogyr... |
OMIM:618291 |
Lissencephaly 8 |
|
Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II l... |
OMIM:617255 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Cerebral dysmyelination, Ventriculomegaly, Death in infancy, Hyperintensity of cerebral white mat... |
OMIM:611722 |
Developmental And Epileptic Encephalopathy 54 |
|
Microcephaly, Ventriculomegaly |
OMIM:617391 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Plagiocephaly, Macrocephaly, Inguinal hernia, Microcephaly, Hypoplasia of the corpus callosum, Ve... |
OMIM:618354 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... |
ORPHA:300573 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Abnormal calvaria morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short cor... |
ORPHA:255138 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Camptodactyly, Ventral hernia, Frontal bossing, Omphalocele, Midface retru... |
OMIM:618529 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Microcephaly, Ventriculomegaly, Pachygyria, Agenesis of corpus c... |
ORPHA:2512 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Omphalocele |
ORPHA:1756 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly |
OMIM:618383 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Remnants of the hyaloid vascular system, Macrocephaly, Pachygyria, Optic nerve hyp... |
OMIM:614643 |
Pontocerebellar Hypoplasia, Type 9 |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventri... |
OMIM:615809 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Dysphagia, Spina bifida, Agenesis of corpus callosum, Cervical m... |
OMIM:207950 |
Carpenter Syndrome 1 |
|
Cerebral atrophy, Joint contracture of the hand, Coronal craniosynostosis, Spina bifida occulta, ... |
OMIM:201000 |
Distal Trisomy 15Q |
|
Microcephaly, Camptodactyly of finger, Omphalocele |
ORPHA:1707 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Flexion contracture, Optic nerve hypoplasia, Microcephaly, Polymicrog... |
OMIM:614833 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Small basal ganglia, Dysplastic corpus callosum, Macrocephaly, Cerebral atrophy, Cerebellar hypop... |
OMIM:616900 |
Peho-Like Syndrome |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Optic atrophy, Lissencephaly, Ventriculomegaly... |
OMIM:617507 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Optic disc hypoplasia, Colpocephaly, Agenesis of corpus... |
OMIM:619955 |
Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Congenital diaphragmatic hernia, Anencephaly, Sirenomeli... |
ORPHA:63260 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Agenesis of cerebellar vermis, Frontal bossing, Cerebellar vermis hypoplasia, Dysp... |
ORPHA:163961 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal calvaria morphology, Cerebral calcification, Dolichocephaly, 4-layered lissencephaly, Hy... |
ORPHA:89844 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Retinal detachment, Dilated fourth ventricle... |
ORPHA:370959 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Macrocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Cerebral calcification, Ventriculomegaly, Retinal degeneration, Craniosynostosis |
OMIM:225755 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly, Polymicrogyria |
OMIM:612691 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Macrocephaly, Cerebellar hypoplasia, Optic atrophy, Abnormal cerebral white matter... |
OMIM:618476 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Increased cup-to-disc ratio, Hypoplasia of the optic tract, Hypoplasia... |
ORPHA:500144 |
Mosaic Trisomy 1 |
|
Macrocephaly, Congenital diaphragmatic hernia, Camptodactyly of finger, Cerebellar hypoplasia, Po... |
ORPHA:1692 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Retinal degeneration, Flexion contracture, Microcephaly, Cerebellar hypoplasia, Ty... |
OMIM:615249 |
Macdermot-Winter Syndrome |
|
Microcephaly, Ventriculomegaly, Camptodactyly of finger, Death in infancy |
OMIM:247990 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Holoprosencephaly, Dolichoc... |
ORPHA:3380 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Spina bifida, Retinal degeneration |
OMIM:311000 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Macrocephaly, Macrogyria, Microcephaly, Retinal detachment, Retinal dysplasia, Age... |
ORPHA:899 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Flexion contracture, Microcephaly, Cerebellar vermis hypoplasia, Dysp... |
OMIM:620001 |
Narp Syndrome |
|
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Abnormal basa... |
ORPHA:644 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Joint contracture of the hand, Camptodactyly |
OMIM:601016 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Microcephaly, Omphalocele, Brachycephaly |
OMIM:263210 |
Pettigrew Syndrome |
|
Hydrocephalus, Flexion contracture, Cerebral calcification, Ventriculomegaly, Dandy-Walker malfor... |
OMIM:304340 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Omphalocele |
OMIM:614450 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Cerebral cortical atrophy, Microcephaly, Pigmentary retinopathy, Hyp... |
ORPHA:370968 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Cerebral atrophy, Cerebral calcification, Death in childhood, Ventriculomegaly, Pr... |
OMIM:610333 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Macrocephaly, Dolichocephaly, Midface retrusion, Ventriculomegaly, Trigonocephaly |
ORPHA:168624 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Microcephaly, Camptodactyly of finger, Hypoplasia of the corpus callosum, Optic atrophy, Ventricu... |
ORPHA:1495 |
Acromelic Frontonasal Dysostosis |
|
Lipoma, Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, ... |
OMIM:603671 |
Bilateral Striopallidodentate Calcinosis |
|
Cerebral calcification, Microcephaly, Ventriculomegaly |
ORPHA:1980 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Unilateral wrist flexion contracture, Dolichocephaly, Cerebellar hypo... |
OMIM:616531 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Art... |
OMIM:616342 |
Halperin-Birk Syndrome |
|
Pseudobulbar paralysis, Congenital diaphragmatic hernia, Flexion contracture, Inguinal hernia, De... |
OMIM:618651 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Inguinal hernia, Dilated fourth ventricle, Thick cerebral cortex, Fro... |
ORPHA:357058 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Macrocephaly, Ventriculomegaly, Brachycephaly, Agenesis of corpus callosum |
OMIM:109120 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Macrocephaly, Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Optic atro... |
OMIM:616975 |
Baraitser-Winter Syndrome 2 |
|
Lissencephaly, Ventriculomegaly, Pachygyria, Secondary microcephaly, Trigonocephaly, Agenesis of ... |
OMIM:614583 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Hernia, Ventriculomegaly, Megalencephaly,... |
OMIM:602501 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Cerebral calcification, Aqueductal stenosis, Omphalocele |
ORPHA:3035 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Craniosynostosis, Aplasia/Hypoplasia of the cer... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Plagiocephaly, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, ... |
OMIM:616362 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Neuronal loss in the ... |
ORPHA:168486 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... |
ORPHA:2182 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Optic disc pallor, Retrobulbar optic neuritis, Secondary microcephaly... |
OMIM:619737 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Macrocephaly, Communicating hydrocephalus, Optic atrophy, Frontal bossing, Lissencephaly, Ventric... |
OMIM:615219 |
Hsd10 Disease |
|
Focal white matter lesions, Microcephaly, Optic atrophy, Ventriculomegaly, Dysphagia, Frontotempo... |
ORPHA:391417 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Omphalocele |
OMIM:275100 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Microcephaly, Frontal bossing, Ventriculomegaly, Optic disc hypoplasia, Biparietal... |
ORPHA:238769 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Microcephaly, Brachycephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:610680 |
Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:614226 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Microcephaly, Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus callosum |
ORPHA:251056 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... |
ORPHA:488627 |
Axial Mesodermal Dysplasia Spectrum |
|
Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1834 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Macrocephaly, Brachycephaly, Frontal cortical atrophy, Ventriculomegaly |
OMIM:300699 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy, Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly |
OMIM:619323 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Abnormality of retinal pigmentation, Cerebral calcification, Microcephaly, Ventric... |
ORPHA:858 |
17P13.3 Microduplication Syndrome |
|
Frontal bossing, Inguinal hernia, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:217385 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:614924 |
Holoprosencephaly |
|
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Holoprosencephaly, Retinopathy, Mic... |
ORPHA:2162 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Flexion contracture, Death in childhood, Microcephaly, Camptodactyly |
OMIM:604273 |
3-Hydroxyisobutyric Aciduria |
|
Cerebral cortical atrophy, Cerebral calcification, Microcephaly, Aplasia/Hypoplasia of the cerebe... |
ORPHA:939 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Dolichocephaly, Prominent occiput, Omphalocele, Midface retrusion |
OMIM:617895 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
OMIM:616212 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Leukoencephalopathy, Focal white matter lesions, Cerebral calcification, Microcephaly, Ventriculo... |
OMIM:612951 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Cerebral atrophy, Absent septum pellucidum, Craniosynostosis, Dolichocephaly, Deat... |
OMIM:602535 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Ventriculomegaly |
OMIM:617557 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Omphalocele, Encephalocele |
ORPHA:1335 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Microcephaly, Death in infancy, Cerebral atrophy, Ventriculomegaly |
OMIM:616034 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Cerebellar ver... |
ORPHA:101070 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Retinal neovascularization, Partial agenesis of the corpus callosum, Cer... |
OMIM:619074 |
Even-Plus Syndrome |
|
Brachycephaly, Dysplastic corpus callosum, Midface retrusion, Agenesis of corpus callosum |
OMIM:616854 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysphagia |
OMIM:617493 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Ventral hernia, Omphalocele |
OMIM:313850 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:619111 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Si... |
OMIM:619179 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Abnormal periventricular wh... |
OMIM:614066 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Relative macrocephaly, Inguinal hernia, Camptodactyly, Sagittal craniosynostosis, ... |
ORPHA:459061 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele |
ORPHA:1263 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Macrocephaly, Inguinal hernia, Microcephaly, Midface retrusion, Hypopl... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 70 |
|
Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Flexion contracture |
OMIM:618298 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Umbilical hernia, Omphaloc... |
ORPHA:2166 |
Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Joint contracture of the hand, Inguinal hernia, Cavum septum p... |
OMIM:247200 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Macrocephaly, Joint contracture of the hand, Spina bifida occulta, Camptodactyly, ... |
OMIM:300373 |
Microcephaly-Cardiomyopathy Syndrome |
|
Microcephaly, Abnormality of retinal pigmentation, Ventriculomegaly |
ORPHA:2515 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cerebral atrophy, Flexion contracture, Microcephaly, Ventriculomegaly, Thin corpus callosum |
OMIM:619851 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Gastroschisis |
ORPHA:2476 |
Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Macrocephaly, Agenesis of corpus callosum, Inguinal hernia |
OMIM:607131 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... |
OMIM:164180 |
Fryns Syndrome |
|
Cerebral cortical atrophy, Congenital diaphragmatic hernia, Ventriculomegaly, Omphalocele, Agenes... |
ORPHA:2059 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Microcephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, Pachygyria, Achilles t... |
ORPHA:370980 |
Pagod Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Death in infancy, Omphalocele, Meni... |
ORPHA:991 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Secondary microcephaly, Ventriculomegaly |
OMIM:617290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Ventriculomegaly |
OMIM:613151 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, Macrocephaly, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Fro... |
ORPHA:420179 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Cerebral atrophy, Flexion contracture, Basal ganglia cysts, Microcephaly,... |
ORPHA:79243 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Flexion contracture, Basal ganglia calcification, Microcephaly, De... |
OMIM:214150 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gyration, Agenesis of corpu... |
OMIM:236680 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal basal ganglia morphology, Subependymal nodules, Pallidal degeneration, Open operculum, R... |
ORPHA:25 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Temporal cortical atrophy, Frontal cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis,... |
ORPHA:137831 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Macrocephaly, Inguinal hernia, Holoprosencephaly, Anencephaly, Neonatal death, Omp... |
OMIM:269860 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Death in infancy, Ventriculomegaly, Secondar... |
OMIM:617248 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Plagiocephaly, Microcephaly, Periventricular leukomalacia, Retinal detachment, Opt... |
OMIM:619833 |
3Mc Syndrome 1 |
|
Abnormality of the abdominal wall, Coronal craniosynostosis, Microcephaly, Spina bifida occulta, ... |
OMIM:257920 |
Christianson Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Aplasia/Hypoplasia of the cerebellum, Death in early adu... |
ORPHA:85278 |
Holoprosencephaly 14 |
|
Hydrocephalus, Macrocephaly, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Mi... |
OMIM:619895 |
Developmental And Epileptic Encephalopathy 89 |
|
Macrocephaly, Cerebral atrophy, Flexion contracture, Death in childhood, Neonatal death, Hypoplas... |
OMIM:619124 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in childhood, Dysplastic corpus callosum, Secondary microcephaly, Death in infancy |
OMIM:619423 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Relative macrocephaly, Cerebellar hypoplasia, Omphalocele, Unicoronal synostosis, Encephalocele, ... |
OMIM:616300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Retinal detachment, Retinal dysplasia, Cereb... |
OMIM:236670 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Joint contracture of the hand, Inguinal hernia, Camptodactyly |
OMIM:211960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo... |
OMIM:613150 |
Skraban-Deardorff Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617616 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia, Polymicrogyria, Partial... |
ORPHA:1136 |
Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Camptodactyly of finger, Anencephaly, Dilated f... |
OMIM:249000 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:887 |
Myopathy, Congenital, Bailey-Bloch |
|
Flexion contracture, Microcephaly, Ventriculomegaly, Brachycephaly, Midface retrusion |
OMIM:255995 |
Nasu-Hakola Disease |
|
Hydrocephalus, Cerebral cortical atrophy, Abnormal adipose tissue morphology, Cerebral calcificat... |
ORPHA:2770 |
Alg3-Cdg |
|
Microcephaly, Hypoplasia of the pons, Neural tube defect, Hypoplasia of the corpus callosum, Cere... |
ORPHA:79321 |
Trisomy 5P |
|
Dolichocephaly, Frontal bossing, Macrocephaly, Ventriculomegaly |
ORPHA:1742 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Acromelic Frontonasal Dysplasia |
|
Hypoplasia of the olfactory bulb, Choroid plexus cyst, Midline central nervous system lipomas, Ve... |
ORPHA:1827 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hydrocephalus, Camptodactyly of finger, Cerebellar hypoplasia, Thickened calvar... |
ORPHA:90652 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral atrophy, Microcephaly, Diffuse cerebral atrophy, Death in infancy, Ventriculomegaly |
OMIM:614946 |
Baraitser-Winter Syndrome 1 |
|
Trigonocephaly, Microcephaly, Lissencephaly, Ventriculomegaly, Pachygyria, Midface retrusion, Age... |
OMIM:243310 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Pachygyria, Abnormal cortical gyration, Polymicrogyria, Flat occiput, Lissencephal... |
ORPHA:2211 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive ... |
OMIM:615760 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Agenesis of corpus callosum, Cerebral atrophy, Death in infancy |
OMIM:600329 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal he... |
ORPHA:2092 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebral atrophy, Microcephaly, Death in childhood, Cerebellar hypoplasia, Hypoplasia of the corp... |
OMIM:612389 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Cerebellar hypoplasia, Optic atrophy, Abnormal cerebral white matter morphology, Ventriculomegaly... |
OMIM:618253 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:612936 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Microcephaly, Death in infancy, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum |
ORPHA:452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebral cortical atrophy, Flexion contracture, Microcephaly, Pigmentary retinopathy, Hypoplasia ... |
OMIM:613156 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Agenesis of corpus callosum, Flexion contracture, Ventriculomegaly |
OMIM:218000 |
Pierpont Syndrome |
|
Abnormal cortical gyration, Primary microcephaly, Ventriculomegaly, Brachycephaly, Abnormal subcu... |
ORPHA:487825 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Microcephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:617804 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Macrocephaly, Inguinal hernia, Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of c... |
OMIM:613735 |
Desmosterolosis |
|
Hydrocephalus, Macrocephaly, Relative macrocephaly, Joint contracture of the hand, Microcephaly, ... |
OMIM:602398 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Plagiocephaly, Macrocephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of t... |
ORPHA:500159 |
Pontocerebellar Hypoplasia, Type 10 |
|
Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral whi... |
OMIM:615803 |
Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Plagiocephaly, Cerebral atrophy, Ventriculomegaly |
OMIM:618008 |
Chromosome 19P13.13 Deletion Syndrome |
|
Macrocephaly, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Frontal bossing, Ventriculomegaly |
OMIM:613638 |
Nevus Comedonicus Syndrome |
|
Microcephaly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Temtamy Syndrome |
|
Frontal bossing, Chorioretinal coloboma, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:218340 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Macrocephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Ven... |
OMIM:609757 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Relative macrocephaly, Cerebral atrophy, Choroid plexus cyst... |
OMIM:606812 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Craniosynostosis, Attenuation of retinal blood vessels, Polymicrogyr... |
ORPHA:468631 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Midface retrusion, Frontal bossing, Omphalocele, Stillbirth |
OMIM:304120 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Macrocephaly, Holoprosencephaly, Frontal bossing, Ventriculomegaly, Encephalocele,... |
ORPHA:93274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Flexion contracture, Holoprosencephaly, Pachygyria, Retinal detachment, Retinal dy... |
OMIM:253800 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Inguinal hernia, Microcephaly, Agenesis... |
ORPHA:96147 |
Peho Syndrome |
|
Hydrocephalus, Cerebral cortical atrophy, Flexion contracture, Biparietal narrowing, Microcephaly... |
ORPHA:2836 |
Developmental And Epileptic Encephalopathy 99 |
|
Thick corpus callosum, Perisylvian polymicrogyria, Microcephaly, Ventriculomegaly, Thin corpus ca... |
OMIM:619606 |
Fryns Syndrome |
|
Joint contracture of the hand, Hypoplasia of the optic tract, Arrhinencephaly, Aplasia of the lef... |
OMIM:229850 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Macrocephaly, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, Frontal bossi... |
ORPHA:1812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Macrocephaly, Cerebral calcification, Polymicrogyria, Hypoplasia of the corpus cal... |
OMIM:616538 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Flexion contracture, Frontal bossing, Omphalocele |
OMIM:608149 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Microcephaly, Cortical dysplasia, Ventriculomegaly |
ORPHA:319199 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Optic atrophy, Dysphagi... |
OMIM:619527 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Abnormal cerebral white matter morphology, Abnormal periventricular white matter morphology, Vent... |
OMIM:613443 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Multiple joint contractures, Trigonocephaly, Joint contracture of the hand, Inguinal hernia, Cran... |
OMIM:218649 |
Mehmo Syndrome |
|
Microcephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:300148 |
Congenital Disorder Of Deglycosylation 2 |
|
Macrocephaly, Retinal coloboma, Polymicrogyria, Partial agenesis of the corpus callosum, Cerebell... |
OMIM:619775 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Microcephaly, Ventriculomegaly |
OMIM:619150 |
Kohlschutter-Tonz Syndrome |
|
Cerebral atrophy, Cerebellar hypoplasia, Enamel hypoplasia, Ventriculomegaly, Amelogenesis imperf... |
OMIM:226750 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Rod-cone dystrophy, Agenesis of corpus callosum, Omphalocele |
OMIM:618419 |
Macrocephaly, Benign Familial |
|
Macrocephaly, Dolichocephaly, Frontal bossing, Ventriculomegaly, Biparietal narrowing |
OMIM:153470 |
C Syndrome |
|
Microcephaly, Trigonocephaly, Omphalocele |
OMIM:211750 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Inguinal hernia, Microcephaly, Frontal bossing, Midface retrusion, Agenesis of cor... |
OMIM:612940 |
4Q21 Microdeletion Syndrome |
|
Cerebellar hypoplasia, Frontal bossing, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238750 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microcephaly, Ventriculomegaly, Dysphagia, Global brain atrophy |
OMIM:308350 |
Brain Small Vessel Disease 2 |
|
Porencephalic cyst, Ventriculomegaly, Polymicrogyria, Schizencephaly |
OMIM:614483 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Macrocephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Optic atrophy,... |
ORPHA:60040 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Diastasis recti, Hydrocephalus, Hiatus hernia, Congenital diaphragmatic hernia,... |
OMIM:305600 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Thick corpus callosum, Dysplastic corpus callosum, Macrocephaly, Inguinal hernia, Dilated third v... |
ORPHA:544488 |
Curry-Jones Syndrome |
|
Craniosynostosis, Polymicrogyria, Ventriculomegaly, Megalencephaly, Hemimegalencephaly, Agenesis ... |
OMIM:601707 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Omphalocele |
ORPHA:2736 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Dysphagia, Ventriculomegaly, H... |
ORPHA:500180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Microcephaly, Death in adolescence, Ventriculomegaly |
OMIM:619059 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Omphalocele, Umbilical hernia, Large placenta |
ORPHA:254534 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:300215 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Retinal coloboma, Polymicrogyria, Retinal dystrophy, Cerebellar vermis hypoplasia,... |
ORPHA:220493 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Plagiocephaly, Cerebral cortical atrophy, Macrocephaly, Flexion contracture, Microcephaly, Fronta... |
OMIM:619720 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Microcephaly, Camptodactyly of finger, Brachycephaly, Midface retrusion, Spina bifida |
ORPHA:1327 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Simplified gyral pattern, Trigonocephaly, Primary microcephaly, Ventriculomegaly |
OMIM:619180 |
Kleefstra Syndrome Due To A Point Mutation |
|
Plagiocephaly, Inguinal hernia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus cal... |
ORPHA:261652 |
Curry-Jones Syndrome |
|
Craniosynostosis, Agenesis of corpus callosum, Optic disc coloboma, Ventriculomegaly |
ORPHA:1553 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Craniosynostosis, Optic atrophy, Ventriculomegaly, Cloverleaf skull, Midface retru... |
OMIM:123790 |
Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Camptodactyly, Frontal bossing, Omphalocele, Stillbirth |
OMIM:228520 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Corpus callosum atrophy, Ventriculomegaly |
OMIM:616680 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the cerebellum, Death in infancy, Vent... |
ORPHA:2481 |
Aicardi Syndrome |
|
Lipoma, Hiatus hernia, Cavum septum pellucidum, Choroid plexus cyst, Microcephaly, Dilated third ... |
OMIM:304050 |
Kapur-Toriello Syndrome |
|
Retinal coloboma, Pachygyria, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:2328 |
Simpson-Golabi-Behmel Syndrome |
|
Macrocephaly, Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdomin... |
ORPHA:373 |
16P13.2 Microdeletion Syndrome |
|
Hydrocephalus, Plagiocephaly, Relative macrocephaly, Flexion contracture, Microcephaly, Dilated t... |
ORPHA:500055 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Midface retrusion, Cerebral atrophy, Ventriculomegaly |
OMIM:617268 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Macrocephaly, Frontal bossing, Ventriculomegaly, Cloverleaf skull, Midface retrusion |
ORPHA:2655 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cortical gyration, Hypoplasia of the corp... |
OMIM:614576 |
Chromosome 9P Deletion Syndrome |
|
Trigonocephaly, Inguinal hernia, Midface retrusion, Omphalocele |
OMIM:158170 |
Codas Syndrome |
|
Hypoplasia of the corpus callosum, Enamel hypoplasia, Broad skull, Ventriculomegaly, Omphalocele |
OMIM:600373 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Flexion contracture, Inguinal hernia, Wrist flexi... |
ORPHA:254528 |
Oculocerebrodental Syndrome |
|
Enamel hypoplasia, Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Linear Verrucous Nevus Syndrome |
|
Aplasia/Hypoplasia of the fovea, Macrocephaly, Retinopathy, Ventriculomegaly, Dandy-Walker malfor... |
ORPHA:2611 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Microcephaly, Cortical dysplasia, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:457260 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Cerebral atrophy, Umbilical hernia, Ventriculomegaly |
OMIM:618164 |
Otopalatodigital Syndrome, Type I |
|
Frontal bossing, Prominent occiput, Omphalocele |
OMIM:311300 |
Apert Syndrome |
|
Hydrocephalus, Absent septum pellucidum, Brachyturricephaly, Optic atrophy, Acrobrachycephaly, Fr... |
ORPHA:87 |
Polymicrogyria, Bilateral Frontoparietal |
|
Perisylvian polymicrogyria, Cerebral dysmyelination, Hypoplasia of the pons, Cerebellar hypoplasi... |
OMIM:606854 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Leukoencephalopathy, Death in childhood, Myelopathy, Cerebral white matter atrophy, Ventriculomeg... |
OMIM:617186 |
Emanuel Syndrome |
|
Multiple joint contractures, Hydrocephalus, Cerebral atrophy, Congenital diaphragmatic hernia, In... |
ORPHA:96170 |
Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis, Omphalocele |
OMIM:145420 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Neonatal death |
OMIM:618810 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Optic atrophy, Secondary microcephaly, Ventriculomegaly |
OMIM:618241 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Rod-cone dystrophy, Hypoplasia of the corpus callosum, Optic atrophy, Frontal bossing, Flat occip... |
OMIM:618547 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Multiple joint contractures, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Abno... |
ORPHA:466934 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1188 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Macrocephaly, Dolichocephaly, Frontal bossing, Ventriculomegaly, Scaphocephaly |
OMIM:615637 |
Desmosterolosis |
|
Hydrocephalus, Macrocephaly, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cort... |
ORPHA:35107 |
Exstrophy-Epispadias Complex |
|
Abnormality of the abdominal wall, Hydrocephalus, Cloacal exstrophy, Cystocele, Abdominal wall de... |
ORPHA:322 |
Melnick-Needles Syndrome |
|
Frontal bossing, Craniofacial hyperostosis, Omphalocele |
ORPHA:2484 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Calvarial skull defect, Congenital diaphragmatic hernia, Cerebellar hypoplasia, Po... |
ORPHA:1647 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Flexion contracture, Dolichocephaly, Microcephaly, Hypoplasia of the corpus call... |
OMIM:617301 |
Warburg Micro Syndrome 3 |
|
Brachycephaly, Cerebral cortical atrophy, Flexion contracture, Microcephaly, Polymicrogyria, Hypo... |
OMIM:614222 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Microcephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, Pachygyria, Achilles t... |
OMIM:606612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Microcephaly, Brachycephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:300958 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Lipoma, Cortical dysplasia, Multiple central nervous system lipomas, Hypoplasia of... |
OMIM:613001 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618381 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Brachycephaly, Omphalocele |
ORPHA:371428 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Plagiocephaly, Inguinal hernia, Optic nerve hypoplasia, Hypoplasia of the corpus c... |
ORPHA:457284 |
3C Syndrome |
|
Hydrocephalus, Macrocephaly, Inguinal hernia, Aplasia/Hypoplasia of the cerebellum, Prominent occ... |
ORPHA:7 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Ventriculomegaly |
ORPHA:1388 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Frontal bossing, Omphalocele, Dysphagia, Large placenta |
ORPHA:254519 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, Cereb... |
ORPHA:314679 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Primary mi... |
ORPHA:261552 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Microcephaly, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Decreased calvarial ossific... |
ORPHA:2772 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Hydrocephalus, Plagiocephaly, Macrocephaly, Cerebellar hypoplasia, C... |
OMIM:617822 |
Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Joint contracture of the hand, Cerebral atrophy, Camptodactyly, Ventriculomegaly, ... |
OMIM:179613 |
Hydrolethalus |
|
Hydrocephalus, Absent septum pellucidum, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:2189 |
Joubert Syndrome 9 |
|
Encephalocele, Ventriculomegaly, Retinal dystrophy |
OMIM:612285 |
Cloacal Exstrophy |
|
Myelomeningocele, Cloacal exstrophy, Bladder exstrophy, Omphalocele, Spina bifida |
ORPHA:93929 |
Pyruvate Dehydrogenase Deficiency |
|
Microcephaly, Multiple lipomas, Frontal bossing, Ventriculomegaly, Trigonocephaly, Aplasia/Hypopl... |
ORPHA:765 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Mild microcephaly, Ventriculomegaly, Camptodactyly |
ORPHA:363444 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Bulimia, Hypoplasia of the corpus call... |
ORPHA:314389 |
Kennerknecht syndrome |
|
Omphalocele |
OMIM:600908 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal basal ganglia morphology, Subretinal deposits, Colpocephaly, Open operculum, Dilated thi... |
ORPHA:397715 |
Cornelia De Lange Syndrome 2 |
|
Microcephaly, Brachycephaly, Ventriculomegaly |
OMIM:300590 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Holoprosencephaly, Dolichocephaly, Microcephaly, Cerebellar hypo... |
OMIM:612530 |
Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Macrocephaly, Midface retrusion, Ventriculomegaly |
OMIM:618205 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:228384 |
Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly |
OMIM:616540 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Macrocephaly, Craniosynostosis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypo... |
OMIM:301056 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... |
OMIM:619103 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Optic disc hypoplasia |
OMIM:182230 |
Shashi-Pena Syndrome |
|
Macrocephaly, Ventriculomegaly |
OMIM:617190 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Primary microcephaly, Ventriculomegaly |
ORPHA:2172 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Microcephaly, Camptodactyly of finger, Ventriculomegaly, Agenesis of corpus ca... |
ORPHA:261236 |
Caribbean Parkinsonism |
|
T2 hypointense basal ganglia, Midline brain calcifications, Ventriculomegaly, Cerebral cortical a... |
ORPHA:97355 |
Juvenile Huntington Disease |
|
Abnormal cerebral white matter morphology, Ventriculomegaly, Neuronal loss in basal ganglia |
ORPHA:248111 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microcephaly, Omphalocele, Holoprosencephaly |
ORPHA:3186 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Diastasis recti, Flexion contracture of thumb, Plagiocephaly, Miscarriage, Flexion contracture, P... |
ORPHA:96334 |
Tatton-Brown-Rahman Syndrome |
|
Macrocephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Ventriculomegaly, Umbilical hern... |
OMIM:615879 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebral atrophy, Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Optic atr... |
OMIM:615851 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hydrocephalus, Cerebral atrophy, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:614969 |
Aicardi Syndrome |
|
Plagiocephaly, Abnormality of retinal pigmentation, Hiatus hernia, Microcephaly, Retinal detachme... |
ORPHA:50 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Microcephaly, Ventriculomegaly |
ORPHA:2643 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Umbilical hernia, Bladder exstrophy |
ORPHA:93930 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Death in childhood, Death in infancy, Omphalocele |
OMIM:243150 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly |
OMIM:618619 |
Developmental And Epileptic Encephalopathy 64 |
|
Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum... |
OMIM:618004 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Plagiocephaly, Omphalocele |
ORPHA:2021 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Inguinal hernia, Microcephaly, Camptoda... |
ORPHA:2273 |
Stromme Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal vascular tort... |
OMIM:243605 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Abn... |
OMIM:300354 |
Constricting Bands, Congenital |
|
Encephalocele, Gastroschisis, Bladder exstrophy, Omphalocele |
OMIM:217100 |
Leukodystrophy, Hypomyelinating, 12 |
|
Flexion contracture, Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Ventriculome... |
OMIM:616683 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hypody... |
OMIM:257300 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Hydrocephalus, Thin calvarium, Aplasia of the left hemidiaphragm, Spina bifida ... |
ORPHA:2437 |
Joubert Syndrome 31 |
|
Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:617761 |
Alg9-Cdg |
|
Cerebral atrophy, Lipodystrophy, Frontal bossing, Omphalocele, Progressive microcephaly, Brachyce... |
ORPHA:79328 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Ventriculomegaly, Optic... |
ORPHA:137902 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Plagiocephaly, Macrocephaly, Inguinal hernia, Craniosynostosis, Optic nerve hypopl... |
ORPHA:93932 |
Rahman Syndrome |
|
Thin corpus callosum, Macrocephaly, Ventriculomegaly, Camptodactyly |
OMIM:617537 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Ventriculomegaly, Retinal degeneration |
OMIM:615630 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Death in childhood, Ventriculomegaly |
OMIM:618251 |
Multiple Sulfatase Deficiency |
|
Hydrocephalus, Cerebral atrophy, Retinal degeneration, Abnormal periventricular white matter morp... |
OMIM:272200 |
Dpm1-Cdg |
|
Cerebral atrophy, Hypoplasia of the frontal lobes, Retinopathy, Camptodactyly, Optic atrophy, Fla... |
ORPHA:79322 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cerebellar hypoplasia, Secondary microcephaly, Ventriculomegaly |
OMIM:613730 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebral cortical atrophy, Cerebral atrophy, Inguinal hernia, Microcephaly, Corpus callosum atrop... |
OMIM:619272 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Macrocephaly, Ventriculomegaly, Megalencephaly, Cerebral white matter hypoplasia, Periventricular... |
ORPHA:500533 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly |
OMIM:619556 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Ventriculomegaly |
OMIM:618228 |
Smith-Magenis Syndrome |
|
Microcephaly, Retinal detachment, Frontal bossing, Corticospinal tract hypoplasia, Ventriculomega... |
ORPHA:819 |
Neu-Laxova Syndrome |
|
Flexion contracture, Cerebral calcification, Macrogyria, Microcephaly, Cerebellar hypoplasia, Abn... |
ORPHA:2671 |
C Syndrome |
|
Trigonocephaly, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia of the abdomina... |
ORPHA:1308 |
Cerebrooculonasal Syndrome |
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Hydrocephalus, Macrocephaly, Craniosynostosis, Optic nerve hypoplasia, Hypoplasia of the corpus c... |
OMIM:605627 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Leukoencephalopathy, Cerebral atrophy, Rod-cone dystrophy, Dilated fourth ventricle, Lateral vent... |
ORPHA:572798 |
Duplication Of The Pituitary Gland |
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Congenital stationary night blindness, Microcephaly, Brachyturricephaly, Hypoplasia of olfactory ... |
ORPHA:314621 |
X-Linked Intellectual Disability, Cantagrel Type |
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Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:85277 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Omphalocele |
OMIM:601927 |
Isolated Exencephaly |
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Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Abnormal... |
ORPHA:563612 |
Cornelia De Lange Syndrome 5 |
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Microcephaly, Brachycephaly, Ventriculomegaly |
OMIM:300882 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Chorioretinal coloboma, Biparietal narrowing, Ventriculomegaly, Meningocele |
ORPHA:2031 |
Chromosome 13Q14 Deletion Syndrome |
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