Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Mirror Movements 1 |
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Agenesis of corpus callosum |
OMIM:157600 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Hyperproinsulinemia |
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Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Corpus Callosum, Agenesis Of |
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Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Sub-Cortical Nodular Heterotopia |
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Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
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Agenesis of corpus callosum |
OMIM:166990 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
Lissencephaly 4 |
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Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Microcephaly 5, Primary, Autosomal Recessive |
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Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
Mismatch Repair Cancer Syndrome 4 |
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Agenesis of corpus callosum |
OMIM:619101 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Lissencephaly 3 |
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Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence... |
OMIM:611603 |
Fetal Akinesia Syndrome, X-Linked |
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Agenesis of corpus callosum |
OMIM:300073 |
Lissencephaly, X-Linked, 1 |
|
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
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Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
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Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... |
OMIM:618959 |
Microcephaly 17, Primary, Autosomal Recessive |
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Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:617090 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:618286 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:620200 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebel... |
ORPHA:572013 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:616570 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... |
OMIM:218670 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of the brainstem, C... |
OMIM:619302 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly |
OMIM:616681 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... |
OMIM:618325 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Band Heterotopia |
|
Lateral ventricle dilatation, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicr... |
OMIM:600348 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ... |
ORPHA:171680 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus cal... |
ORPHA:1528 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Periventricular leukomalacia, Agenesis of corpus callosum |
OMIM:618324 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:304100 |
Masa Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly |
OMIM:618766 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum |
OMIM:605899 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... |
OMIM:615095 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:307000 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... |
ORPHA:255138 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly |
OMIM:618276 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:616171 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:614226 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... |
OMIM:614833 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Simplified gyra... |
OMIM:613153 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Atrophy of the spinal cord, Partial agenesis of the corpus callosum, Neuronal loss ... |
ORPHA:86822 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... |
ORPHA:300570 |
Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Anencephaly |
OMIM:614120 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... |
OMIM:600118 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... |
OMIM:616212 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... |
OMIM:604360 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos... |
OMIM:618603 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... |
OMIM:607196 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:164180 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o... |
ORPHA:168486 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Syringomyelia, Agenesis of corpus callosum, Spina bifida |
OMIM:207950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co... |
OMIM:620316 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... |
OMIM:616819 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum |
OMIM:610498 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... |
OMIM:619517 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Craniosynostosis 6 |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:616602 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619989 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2182 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Abnormal cerebral white matter morphology, Amyotrophic la... |
OMIM:602099 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Foxg1 Syndrome |
|
Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph... |
ORPHA:561854 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ... |
ORPHA:79243 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:466688 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal... |
ORPHA:89844 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300887 |
Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:617695 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum |
ORPHA:380 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Maternal Uniparental Disomy Of Chromosome X |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Fg Syndrome 3 |
|
Agenesis of corpus callosum |
OMIM:300406 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, S... |
ORPHA:500144 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:312170 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:618346 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hy... |
OMIM:615249 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria... |
OMIM:225790 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis o... |
OMIM:617669 |
6Q25 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:251056 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Cerebral atrophy, Colpocephaly, Hypoplasia ... |
OMIM:620156 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Focal cortical dysplasia, Polymicrogyria |
ORPHA:101030 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum |
OMIM:615433 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619074 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Syringomyelia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613735 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly |
OMIM:618142 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:521308 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:452 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Craniofacial Dyssynostosis With Short Stature |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:218350 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ... |
ORPHA:2524 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... |
ORPHA:276580 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Di... |
ORPHA:370959 |
Hogue-Janssen Syndrome 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616362 |
Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Agenesis of corpus callosum |
OMIM:136760 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... |
OMIM:214150 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Greig Cephalopolysyndactyly Syndrome |
|
Agenesis of corpus callosum |
OMIM:175700 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... |
OMIM:221770 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... |
ORPHA:276575 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Agenesis of corpus callosum |
OMIM:109120 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum |
OMIM:218000 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona... |
ORPHA:275872 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616239 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
Temtamy Syndrome |
|
Agenesis of corpus callosum, Thick corpus callosum |
OMIM:218340 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Ring Chromosome 22 Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:1446 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1553 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:990 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619980 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:300004 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Vici Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr... |
ORPHA:1493 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology |
OMIM:263570 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
Hydrolethalus |
|
Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the corpus callosum,... |
OMIM:613001 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... |
ORPHA:481152 |
Agnathia-Otocephaly Complex |
|
Agenesis of corpus callosum |
OMIM:202650 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Baraitser-Winter Syndrome 1 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
OMIM:243310 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum |
OMIM:619320 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th... |
ORPHA:3157 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse... |
ORPHA:899 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ... |
OMIM:609053 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... |
OMIM:616975 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Cerebral cortical atrophy |
OMIM:606353 |
Immunodeficiency 49 |
|
Agenesis of corpus callosum, Reduced cerebral white matter volume |
OMIM:617237 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... |
OMIM:620073 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620250 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Microcephaly, Simplified gyral pattern, Colpocephaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:615219 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... |
OMIM:620113 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618109 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612337 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per... |
OMIM:617360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosu... |
OMIM:614643 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:615802 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Absent septum pellucidum, Cortical dysplasia, Anencephaly, Abnorma... |
OMIM:615287 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the pyramidal tract, Pachygyria, Hypoplasia of the brainstem, Lissencephaly, Cerebe... |
OMIM:253800 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum |
OMIM:613174 |
1Q44 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:238769 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... |
OMIM:619720 |
Marden-Walker Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu... |
OMIM:619775 |
Birk-Landau-Perez Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:617595 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:563612 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:77298 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation |
OMIM:617296 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Cerebellar hypoplasia, Hyperintensity of cerebral white matter on MRI, Ag... |
OMIM:618476 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... |
OMIM:616449 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Microcephaly, Partial absence of cerebellar vermis, Hypoplasia of the brainstem, Cerebellar hypop... |
OMIM:613150 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220497 |
Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:619435 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... |
ORPHA:96147 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... |
ORPHA:314679 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morphology, Pachygyr... |
ORPHA:157 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:612863 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum |
OMIM:618929 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc... |
ORPHA:357058 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:220493 |
Desmosterolosis |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Macrogyria, Lisse... |
ORPHA:35107 |
Intellectual Disability-Strabismus Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:363528 |
Trisomy 1Q |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Co... |
ORPHA:468631 |
Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
Acromelic Frontonasal Dysplasia |
|
Agenesis of corpus callosum, Hypoplasia of the olfactory bulb |
ORPHA:1827 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617260 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Agenesis of corpus callosum |
ORPHA:3301 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum |
ORPHA:420794 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Agenesis of corpus callosum |
OMIM:300472 |
Curry-Jones Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Hemimegalencephaly, Megalencephaly |
OMIM:601707 |
Emanuel Syndrome |
|
Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesis of corpus cal... |
ORPHA:96170 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Orofaciodigital Syndrome Type 5 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:2919 |
Toriello-Carey Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... |
ORPHA:3338 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:261476 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
Fumarase Deficiency |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene... |
OMIM:606812 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenes... |
OMIM:243605 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Basal ganglia calcification, ... |
OMIM:617281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains... |
OMIM:236670 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum |
ORPHA:1812 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:217980 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:618651 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Microform Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:280200 |
Duplication Of The Pituitary Gland |
|
Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly |
ORPHA:314621 |
Pseudotrisomy 13 Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:264480 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum |
OMIM:618733 |
Bohring-Opitz Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:605039 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:85201 |
16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261236 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Cal... |
OMIM:603671 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... |
OMIM:608836 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Microcephaly, Hypodysplasia of the corpus callosum, Cerebral hypoplasia, Cerebellar hypoplasia, A... |
OMIM:257300 |
Thakker-Donnai Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1780 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positive cerebral incl... |
ORPHA:52430 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co... |
OMIM:613457 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:619148 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Opitz Gbbb Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:300000 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:174300 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Agenesis of corpus callosum |
ORPHA:556955 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
8P Inverted Duplication/Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:96092 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Desmosterolosis |
|
Partial agenesis of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum |
OMIM:602398 |
15Q Overgrowth Syndrome |
|
Syringomyelia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum |
OMIM:276300 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... |
ORPHA:263455 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261323 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten... |
ORPHA:3008 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... |
ORPHA:2396 |
Apert Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:87 |
Kleefstra Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:261494 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont... |
ORPHA:457284 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Microce... |
OMIM:618500 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Absent septum pellucidum, Foca... |
OMIM:612651 |
Fryns Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation |
ORPHA:2059 |
Sotos Syndrome |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum |
OMIM:117550 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Polymicrogyria |
OMIM:277170 |
1Q21.1 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:250989 |
Mycophenolate Mofetil Embryopathy |
|
Agenesis of corpus callosum |
ORPHA:268249 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:847 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... |
OMIM:301043 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
OMIM:309801 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Melas |
|
Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c... |
ORPHA:550 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Po... |
OMIM:620305 |
Brain-Lung-Thyroid Syndrome |
|
Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly |
ORPHA:209905 |
Microphthalmia, Syndromic 3 |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:206900 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Holoprosencephaly 14 |
|
Absent septum pellucidum, Microcephaly, Partial agenesis of the corpus callosum, Partial absence ... |
OMIM:619895 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... |
OMIM:618820 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Cerebellar hypopla... |
OMIM:619512 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Partial agenesis of the corpus callosum, Tethered cord, Thin corpus callosum, Spina bifida |
OMIM:619480 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum |
OMIM:613091 |
Alexander Disease |
|
Cerebral calcification, Agenesis of corpus callosum, Megalencephaly |
ORPHA:58 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic... |
OMIM:614866 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Agenesis of corpus callosum |
OMIM:123790 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Perlman Syndrome |
|
Agenesis of corpus callosum |
OMIM:267000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261552 |
Marshall-Smith Syndrome |
|
Absent septum pellucidum, Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypopl... |
OMIM:602535 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum |
OMIM:618748 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Opitz Gbbb Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age... |
ORPHA:2745 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619418 |
Apert Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Megalencephaly |
OMIM:101200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri... |
ORPHA:508498 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... |
ORPHA:42775 |
Chromosome 13Q14 Deletion Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:613884 |
Fanconi Anemia, Complementation Group D2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:227646 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:242840 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc... |
ORPHA:97297 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Coffin-Siris Syndrome 4 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l... |
ORPHA:33364 |
Holoprosencephaly 1 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:236100 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Agenesis of corpu... |
OMIM:311200 |
Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... |
ORPHA:50 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum |
OMIM:618419 |
Hartsfield Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615465 |
Marden-Walker Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:2461 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:264200 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Coffin-Siris Syndrome |
|
Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly |
ORPHA:1465 |
Jacobsen Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Cerebral atrophy, Spina bifida |
ORPHA:2308 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Agenesis of corpus callosum... |
OMIM:610828 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Tethered cord, Agenesis of corpus callosum, Microcephaly |
ORPHA:280 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum |
OMIM:305450 |
Histiocytoid Cardiomyopathy |
|
Agenesis of corpus callosum |
ORPHA:137675 |
Trisomy 8P |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females |
ORPHA:528 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:352665 |
Monosomy 9P |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Abnormal cortical gyration, Micr... |
OMIM:610829 |
Osteopathia Striata With Cranial Sclerosis |
|
Partial agenesis of the corpus callosum, Spina bifida occulta |
OMIM:300373 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Microcephaly, Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Microcephaly, Dural ectasia, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363958 |
Acrocallosal Syndrome |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes... |
OMIM:256520 |
Orofaciodigital Syndrome Type 14 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W... |
ORPHA:434179 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:615948 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Fryns Syndrome |
|
Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-... |
OMIM:229850 |
Meckel Syndrome, Type 1 |
|
Microcephaly, Anencephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosu... |
OMIM:249000 |
Orofaciodigital Syndrome Type 1 |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
ORPHA:506358 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Agenesis of corpus callosum, D... |
OMIM:236680 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Wolf-Hirschhorn Syndrome |
|
Tethered cord, Absent septum pellucidum, Microcephaly, Periventricular cysts, Cavum septum pelluc... |
OMIM:194190 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Monosomy 22Q13.3 |
|
Agenesis of corpus callosum |
ORPHA:48652 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:95494 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... |
ORPHA:2273 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,... |
OMIM:180849 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:2556 |
Simpson-Golabi-Behmel Syndrome |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dandy-Walker malformation, Microcephaly, Partial agenesis of the corpus... |
OMIM:270400 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:619841 |
Holoprosencephaly 2 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:157170 |
Semilobar Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:93924 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Yunis-Varon Syndrome |
|
Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pachygyria, Agenesi... |
ORPHA:3472 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Pachygyria, Leukoencephalopathy, Lateral ventricle dilatation, Hypoplasia of the co... |
OMIM:607872 |
Baller-Gerold Syndrome |
|
Spina bifida occulta, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:218600 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
1P36 Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:1606 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp... |
OMIM:617140 |
Degcags Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619488 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79086 |
Focal Dermal Hypoplasia |
|
Spina bifida occulta, Agenesis of corpus callosum, Microcephaly |
OMIM:305600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ... |
OMIM:220111 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Coffin-Siris Syndrome 1 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b... |
OMIM:135900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:93271 |
Wiedemann-Rautenstrauch Syndrome |
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Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:264090 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w... |
ORPHA:500150 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:248370 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261537 |
Wiedemann-Rautenstrauch Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal corpus striatum morp... |
ORPHA:3455 |
Peters-Plus Syndrome |
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Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:261540 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Leprechaunism |
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Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... |
ORPHA:508 |
Mowat-Wilson Syndrome |
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Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha... |
ORPHA:2152 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:312870 |
Townes-Brocks Syndrome |
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Agenesis of corpus callosum |
ORPHA:857 |
Yunis-Varon Syndrome |
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Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co... |
OMIM:216340 |
Atypical Werner Syndrome |
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Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... |
OMIM:269700 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Witteveen-Kolk Syndrome |
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Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Craniofacial Microsomia 1 |
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Agenesis of corpus callosum |
OMIM:164210 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Alström Syndrome |
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Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
Pmm2-Cdg |
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Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |