Schizencephaly |
|
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
OMIM:269160 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... |
OMIM:614039 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of the ... |
OMIM:604213 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... |
OMIM:610031 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Hypoplasia of the corpus callosum, Abnormal basal ganglia mo... |
ORPHA:101029 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Lissencephaly 4 |
|
Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of... |
OMIM:614019 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Cortical dy... |
OMIM:608716 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401830 |
Lissencephaly 3 |
|
Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, P... |
OMIM:611603 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:401820 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ... |
OMIM:304100 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Colpocephaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Ag... |
ORPHA:250972 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Agenesis of corpus callosum, Pachygyria |
OMIM:300067 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:618492 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
ORPHA:85179 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell... |
OMIM:218670 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Dysgenesis of ... |
ORPHA:300573 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Cerebral atrophy, Agenesis of corpus callosum |
OMIM:600329 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hydrocephalus, Part... |
OMIM:619302 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Progressive microcephaly, Partial agenesis of the corpus callosum, Inferi... |
OMIM:618959 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasi... |
OMIM:617090 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Microcephaly, Cerebral atrophy, Hypop... |
ORPHA:255182 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age... |
OMIM:307000 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum |
OMIM:619466 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Band Heterotopia |
|
Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agenesis of corpus cal... |
OMIM:600348 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:616570 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Thin corpus callosum, Agenesis of corpus callosum, Probst bundles |
OMIM:618286 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:612948 |
Lissencephaly Due To Tuba1A Mutation |
|
Hypoplasia of the brainstem, Perisylvian polymicrogyria, Agyria, Dysgenesis of the basal ganglia,... |
ORPHA:171680 |
Masa Syndrome |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:303350 |
Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Agenesis of corpus callosum |
OMIM:300073 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Agenesis of corpus callosum |
OMIM:616540 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p... |
OMIM:619301 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:262767 |
Refractory Celiac Disease |
|
Hypophosphatemia, Autoimmune antibody positivity, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, ... |
ORPHA:398063 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Agenesis of corpus callosum, Primary microcephaly |
OMIM:616681 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypoplasia of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum |
ORPHA:166024 |
Holoprosencephaly 11 |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:614226 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Cerebral atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:274270 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Periventricular leukomalacia, Agenesis of corpus callosum |
OMIM:618324 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Microcephaly, Agenesis of corpus callosum |
ORPHA:2512 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp... |
ORPHA:2182 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... |
OMIM:613153 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Frontal cortical atrophy, Parietal cortical atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:618766 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Periventricular leukom... |
ORPHA:255138 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim... |
OMIM:615095 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior c... |
OMIM:617542 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Primary microcephaly, Simplified gyral pattern, Partial agenesis of the co... |
OMIM:604804 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:2508 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Optic nerve hypoplasia, Spina bifida o... |
OMIM:618736 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
East Syndrome |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level |
ORPHA:199343 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, Hypoplasia of the corpus callos... |
OMIM:600638 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Insulin receptor antibody positivity, Anti-thyroid peroxidase antibod... |
ORPHA:37042 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Septooptic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Microhydranencephaly |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Pachygyria, Ag... |
OMIM:605013 |
Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus callosum, Orbita... |
OMIM:164180 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Agenesis of corp... |
OMIM:614833 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of ... |
OMIM:600118 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:617127 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Hypomagnesemia, Abnormal cir... |
ORPHA:1578 |
Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Focal cortical dysplasia,... |
ORPHA:101030 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Cerebellar hypoplasia, Agyria, Lissencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:616342 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Hypoplasia of the co... |
OMIM:604360 |
Coach Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619111 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Lissencephaly 6 With Microcephaly |
|
Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial agenesis of the corpus callo... |
OMIM:616212 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Microcephaly, P... |
ORPHA:168486 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum |
ORPHA:1496 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Lateral ventricle dilatation, Basal ganglia necrosis, Periventricular leuk... |
ORPHA:79243 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Abnormal globus pal... |
OMIM:618603 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:618577 |
Microcephaly, Amish Type |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... |
OMIM:607196 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
Imagawa-Matsumoto Syndrome |
|
Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cer... |
ORPHA:86822 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation, Hyd... |
OMIM:225790 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:615286 |
Foxg1 Syndrome |
|
Progressive microcephaly, Abnormal corpus callosum morphology, Pachygyria, Hypoplasia of the corp... |
ORPHA:561854 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Primary microcephaly, Partial a... |
OMIM:616819 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissencephaly, Type II... |
OMIM:615249 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Primary microcephaly, 4-layered lissencephaly, Cerebral calcification, Microlissencephaly, Hypopl... |
ORPHA:89844 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum |
OMIM:601016 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level |
OMIM:612780 |
Pontocerebellar Hypoplasia, Type 11 |
|
Cerebellar hypoplasia, Hypoplasia of the pons, Microcephaly, Hypoplasia of the corpus callosum, A... |
OMIM:617695 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Microcephaly, Da... |
OMIM:616602 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum |
OMIM:610498 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin corpus callosum, Partial agenesis of the corpus callosum, Microcephaly, Lateral ventricle di... |
OMIM:619517 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Agenesis of corpus callosum |
OMIM:615433 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination |
OMIM:252650 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Arrhinencephaly, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum, Pachygyria |
OMIM:614583 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Primary microcephaly, ... |
ORPHA:500144 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:466688 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Basal ganglia cysts, Microcephaly, Agenesis of corpus callosum |
OMIM:312170 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:453521 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619989 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Gitelman Syndrome |
|
Hypokalemia, Hypomagnesemia, Increased circulating renin level |
OMIM:263800 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Periventricular leukomal... |
OMIM:616900 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalu... |
ORPHA:370959 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum |
OMIM:218350 |
Maternal Uniparental Disomy Of Chromosome X |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261519 |
Pontocerebellar Hypoplasia Type 2 |
|
Hypoplasia of the brainstem, Hypoplasia of the ventral pons, Abnormal cortical gyration, Cerebell... |
ORPHA:2524 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:521308 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pon... |
OMIM:617669 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus c... |
OMIM:136760 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia |
ORPHA:405 |
Meckel Syndrome 12 |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Arrhinencephaly, Microcephaly, Agenesis of cerebellar... |
OMIM:616258 |
6Q25 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:251056 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300215 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:616362 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:618346 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:618142 |
Al-Gazali-Bakalinova Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:607131 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Thin corpus callosum, Partial agenesis of the corpus callosum |
OMIM:619653 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:99742 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum, ... |
OMIM:620001 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:990 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Pachygyria, Microcephaly, Agenesis of corpus callosum |
ORPHA:452 |
Hydrolethalus |
|
Arrhinencephaly, Anencephaly, Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2189 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Diffuse cerebral atrophy, Basal ganglia calcification, Microcephaly, Agene... |
OMIM:214150 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the brainstem, Normal pressure hydrocephalus, Lateral ventricle dilatation, Primary... |
ORPHA:300570 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cavum septum pellucidum |
OMIM:619074 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hashimoto thyroiditis, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Secondary microcephaly, Dysplastic corpus callosum, Periventricular white matter hyperintensities |
OMIM:619737 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Lateral ventricle dilatation, Simplified gyral pattern, Microcephaly, Cerebr... |
OMIM:619244 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Porencephalic cyst, Agenesis of corpus callosum, Hydrocephalus, Cortical d... |
OMIM:613001 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Hypopla... |
OMIM:253800 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:241200 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Partial agenesis of the co... |
OMIM:616051 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, Hydrocephalus, Dandy-Walker malfor... |
ORPHA:899 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Lissenc... |
OMIM:614643 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus... |
ORPHA:1136 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Agenesis of corpus callosum, Diffuse white matter abnormalities |
OMIM:218000 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:77298 |
Agnathia-Otocephaly Complex |
|
Holoprosencephaly, Agenesis of corpus callosum |
OMIM:202650 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Noncommunicating hydrocephalus, Agenesis of corpus callosum |
OMIM:619320 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum |
OMIM:616239 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Temtamy Syndrome |
|
Thick corpus callosum, Agenesis of corpus callosum |
OMIM:218340 |
Fumarase Deficiency |
|
Hypoplasia of the brainstem, Open operculum, Microcephaly, Cerebral atrophy, Agenesis of corpus c... |
OMIM:606812 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Multifocal cerebral white matter abnorma... |
ORPHA:488627 |
Weiss-Kruszka Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:618619 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Hypoplasia of the brainstem, Hyperintensity of cerebral white matter on MRI... |
ORPHA:481152 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Immunodeficiency 49 |
|
Reduced cerebral white matter volume, Agenesis of corpus callosum, Eosinophilia |
OMIM:617237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Type II lissenc... |
OMIM:613150 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:563612 |
Vici Syndrome |
|
Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Cerebellar hypopl... |
ORPHA:1493 |
Braddock-Carey Syndrome 1 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619980 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Cerebellar vermis hypo... |
ORPHA:220497 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum |
ORPHA:139471 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Anencephaly... |
OMIM:615287 |
Baraitser-Winter Syndrome 1 |
|
Pachygyria, Lissencephaly, Microcephaly, Agenesis of corpus callosum |
OMIM:243310 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Hypoplasia of the corpus callosum, Secondary microcephaly, Agenesis of corpus callosum, Cerebella... |
OMIM:620073 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:613735 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Colp... |
OMIM:609053 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hyperintensity of cerebral white matter on MRI, Cerebellar hypoplasia, Agenesis of corpus callosu... |
OMIM:618476 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum |
ORPHA:1446 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
ORPHA:238769 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:459061 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Leukoencephalopathy, Dysplastic corpus callosum, Agenesis of c... |
OMIM:614924 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:300004 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261144 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Primary microcephaly, Secondary microcephaly, Thick cerebral cortex, Pachygyria, Dysplastic corpu... |
ORPHA:357058 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Periventricular leukomalacia, Spina bifida occulta, Microcephaly, Hypoplas... |
OMIM:617360 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1553 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:612940 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:612863 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Optic nerve hypoplasia, Absent septu... |
ORPHA:3157 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebral cortical atrophy, Thin corpus callosum, Microcephaly, Agenesis of corpus callosum, Cereb... |
OMIM:619720 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Cerebellar vermis hypo... |
ORPHA:220493 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Cerebral calcification, Cerebellar vermis hypoplasia, Pachygyria, Abnormal basal g... |
ORPHA:157 |
Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenes... |
OMIM:248700 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Focal polymicrogyria, Dysplastic corpus callosum, Microc... |
OMIM:619103 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Secondary microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosu... |
OMIM:620113 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum |
OMIM:613174 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, C... |
OMIM:616449 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Simplified gyral pattern, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic... |
OMIM:619179 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, C... |
OMIM:615802 |
Desmosterolosis |
|
Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissencephaly, Microcephaly, Pachygyria, A... |
ORPHA:35107 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Microcephaly, Agenesis of... |
OMIM:264480 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Cerebellar hyp... |
ORPHA:468631 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Cerebellar hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... |
OMIM:301056 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Hypoplasia of the olfactory bulb, Encephalocele, Agenesis of corpus callosum |
ORPHA:1827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Dandy-Walker malformat... |
OMIM:236670 |
Curry-Jones Syndrome |
|
Hemimegalencephaly, Occipital meningocele, Megalencephaly, Lipomyelomeningocele, Agenesis of corp... |
OMIM:601707 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:222448 |
Ritscher-Schinzel Syndrome 4 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619435 |
Emanuel Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Abnormal cerebral white matter morphology, Microcepha... |
ORPHA:96170 |
Nizon-Isidor Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:618872 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:612582 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia |
ORPHA:3301 |
Birk-Landau-Perez Syndrome |
|
Pachygyria, Microcephaly, Agenesis of corpus callosum |
OMIM:617595 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypoplasia of the corpus callosum, Partial agenesis of the corpus callosum |
OMIM:618109 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:612337 |
Cerebrofacioarticular Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of corpus c... |
ORPHA:314679 |
Congenital Disorder Of Deglycosylation 2 |
|
Thin corpus callosum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Poly... |
OMIM:619775 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hydrocephalus, Cerebral calcification, Cerebellar vermis hypoplasia, Pachygyria, Intracerebral pe... |
ORPHA:228308 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Microcephaly, Absent septum pellucidum, ... |
ORPHA:96147 |
Intellectual Disability-Strabismus Syndrome |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum |
ORPHA:363528 |
Stromme Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus ca... |
OMIM:243605 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Radio-Tartaglia Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619312 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:1812 |
Microform Holoprosencephaly |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
ORPHA:280200 |
Holoprosencephaly 14 |
|
Aqueductal stenosis, Hydrocephalus, Alobar holoprosencephaly, Partial absence of cerebellar vermi... |
OMIM:619895 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Halperin-Birk Syndrome |
|
Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:618651 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum |
ORPHA:556955 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebellar hypoplasia, Hypodysplasia of the corpus callosum, Cerebral hypoplasia, Agenesis of cor... |
OMIM:257300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum |
OMIM:618929 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Agenesis of corpus callosum, Hypoplasia of olfactory tract |
ORPHA:314621 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Encephalocele, Calcification of falx cerebri, Optic nerve hypo... |
OMIM:603671 |
16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Microcephaly, Agenesis of corpus callosum |
ORPHA:261236 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:617260 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation |
OMIM:619148 |
Heterotaxy, Visceral, 2, Autosomal |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:605376 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation |
OMIM:300952 |
Bohring-Opitz Syndrome |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Microcephaly, Hypoplasia of the corpus ... |
OMIM:605039 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Hypoplasia of the corpus call... |
OMIM:618500 |
Monosomy 13Q34 |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:96168 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Agenesis of corpus callosum, Basal ganglia cysts, Microcephaly, Intracerebral periventricular cal... |
OMIM:608836 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypopla... |
OMIM:301043 |
Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Abs... |
OMIM:612651 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:217980 |
Desmosterolosis |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the corpus callosum... |
OMIM:602398 |
Leigh Syndrome |
|
Encephalomalacia, Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Abn... |
ORPHA:506 |
Orofaciodigital Syndrome Type 5 |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:2919 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Agenesis of corpus callosum |
OMIM:300472 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral white matter on M... |
ORPHA:544488 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Agenesis of co... |
ORPHA:1692 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:261476 |
Apert Syndrome |
|
Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:87 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Thin corpus callosum, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:613457 |
Orofaciodigital Syndrome Vi |
|
Porencephalic cyst, Arrhinencephaly, Polymicrogyria, Occipital meningocele, Agenesis of corpus ca... |
OMIM:277170 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly,... |
OMIM:610828 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the corpus call... |
ORPHA:457284 |
Genitopatellar Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:85201 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum |
ORPHA:420794 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Cerebellar hypoplasia, Thin corpus callosum, Hydrocephalus, Hypoplasia of th... |
OMIM:619512 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum |
OMIM:618733 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Microcephaly, Age... |
OMIM:615465 |
Opitz Gbbb Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:300000 |
8P Inverted Duplication/Deletion Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:96092 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
ORPHA:250989 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Pyruvate Carboxylase Deficiency |
|
Periventricular cysts, Basal ganglia gliosis, Hyperintensity of cerebral white matter on MRI, Cer... |
ORPHA:3008 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:261494 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Cerebral calcification, Megalencephaly, Agenesis of corpus ca... |
ORPHA:58 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Orofaciodigital Syndrome V |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:174300 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Colpocephaly, Secondary microcephaly, Holoprosencephaly, Absent septum pellucidum, Dysplastic cor... |
OMIM:618820 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Melas |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcifi... |
ORPHA:550 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261323 |
Sotos Syndrome |
|
Partial agenesis of the corpus callosum, Cavum septum pellucidum |
OMIM:117550 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral calcification, Cerebral atrophy... |
ORPHA:2396 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:314585 |
Fryns Syndrome |
|
Cerebral cortical atrophy, Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:2059 |
Toriello-Lacassie-Droste Syndrome |
|
Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:3339 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar hypoplasia, Macrogyria, Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Colpo... |
OMIM:614866 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:847 |
Apert Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Megalencephaly, Absent septum pellucidum, Agenesis of corpu... |
OMIM:101200 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Brain-Lung-Thyroid Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Cavum septum pellucidum |
ORPHA:209905 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Spina bifida occulta, Microcephaly, Dysplastic corpus callosum, Agenes... |
OMIM:151050 |
Aicardi Syndrome |
|
Lateral ventricle dilatation, Spina bifida, Polymicrogyria, Cerebellar vermis hypoplasia, Partial... |
OMIM:304050 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Abnormal cortical gyration, Porencephalic cyst, Hydrocephalus, Microcephaly, Ce... |
OMIM:311200 |
Craniofrontonasal Syndrome |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:304110 |
Marshall-Smith Syndrome |
|
Cerebellar hypoplasia, Macrogyria, Hydrocephalus, Optic nerve hypoplasia, Cerebral atrophy, Pachy... |
OMIM:602535 |
Fanconi Anemia, Complementation Group D2 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:227646 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Microphthalmia, Syndromic 3 |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:206900 |
Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Absent septum pellucidum, Holoprosencephaly, Agenesis of corpu... |
OMIM:613884 |
Opitz Gbbb Syndrome |
|
Dandy-Walker malformation, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal corpus callosum ... |
ORPHA:2745 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum |
OMIM:276300 |
Marden-Walker Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus ... |
ORPHA:2461 |
Holoprosencephaly 1 |
|
Cerebellar hypoplasia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus c... |
OMIM:236100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Spina bifida, Periventricular leukomalacia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of t... |
ORPHA:508498 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum |
OMIM:613091 |
Trichothiodystrophy |
|
Cerebral cortical atrophy, Periventricular leukomalacia, Cerebral dysmyelination, Partial agenesi... |
ORPHA:33364 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Vici Syndrome |
|
Schizencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:242840 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum |
OMIM:619418 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Colpocephaly, Lateral ventricle dilatation, Abnormal cortical gy... |
OMIM:210710 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Arrhinencephaly, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2538 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephaly, Partial age... |
OMIM:610829 |
Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Microcephaly, Agenesis of corpus ca... |
ORPHA:97297 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Trisomy 8P |
|
Dandy-Walker malformation, Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
ORPHA:264450 |
Phace Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly, Dandy-W... |
ORPHA:42775 |
Perlman Syndrome |
|
Agenesis of corpus callosum |
OMIM:267000 |
Aicardi Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Partial agenesis of the corpus callosum, Microcephaly, Pach... |
ORPHA:50 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Holoprosencephaly,... |
OMIM:615948 |
Meckel Syndrome, Type 1 |
|
Cerebellar hypoplasia, Cerebral hypoplasia, Anencephaly, Agenesis of corpus callosum, Hydrocephal... |
OMIM:249000 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum |
OMIM:618419 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:619194 |
Jacobsen Syndrome |
|
Spina bifida, Pachygyria, Cerebral atrophy, Agenesis of corpus callosum |
ORPHA:2308 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:352665 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2658 |
Coffin-Siris Syndrome |
|
Simplified gyral pattern, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum |
ORPHA:1465 |
Coffin-Siris Syndrome 4 |
|
Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum |
OMIM:614609 |
Osteopathia Striata With Cranial Sclerosis |
|
Spina bifida occulta, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:300373 |
Hydrolethalus Syndrome 1 |
|
Severe hydrocephalus, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Dandy-Walker malf... |
OMIM:236680 |
Holoprosencephaly 2 |
|
Cerebellar hypoplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, ... |
OMIM:157170 |
Acrocallosal Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:200990 |
Fryns Syndrome |
|
Arrhinencephaly, Agenesis of corpus callosum, Hypoplasia of olfactory tract, Hypoplasia of the op... |
OMIM:229850 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:264200 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum |
OMIM:618748 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363958 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Microcephaly, Agenesis of corpus callosum |
ORPHA:96176 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida, Thin corpus callosum, Partial agenesis of the corpus callosum |
OMIM:619480 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of the frontal lobes, Global brain atrophy, Hydrocephalus, Diffuse cerebral atrophy, H... |
OMIM:270400 |
Monosomy 9P |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261112 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
ORPHA:2556 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Agenesis of corpus callosum |
ORPHA:280 |
Orofaciodigital Syndrome Type 1 |
|
Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:2750 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Holoprosencephaly, Absent septum pellucidum, Agene... |
ORPHA:95494 |
Zttk Syndrome |
|
Cerebellar hypoplasia, Periventricular leukomalacia, Abnormal cerebral white matter morphology, H... |
OMIM:617140 |
Neu-Laxova Syndrome 1 |
|
Primary microcephaly, Cerebellar hypoplasia, Spina bifida, Agenesis of corpus callosum, Lissencep... |
OMIM:256520 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93924 |
Orofaciodigital Syndrome Type 14 |
|
Open operculum, Partial agenesis of the corpus callosum, Microcephaly, Hypoplasia of the corpus c... |
ORPHA:434179 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Communicating hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ce... |
OMIM:619841 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Primary microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Hy... |
ORPHA:3472 |
Wolf-Hirschhorn Syndrome |
|
Periventricular cysts, Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus ... |
OMIM:194190 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperintensity of cerebral white matter on MRI, Spina bifida, Spina bifida occulta, Microcephaly,... |
OMIM:180849 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:506358 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Hydrocephalus, Micr... |
OMIM:607872 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Abs... |
ORPHA:2273 |
Simpson-Golabi-Behmel Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Global brain atrophy, Cerebellar hemisphere hypoplasia, Ischemic stroke, Lateral ventricle dilata... |
ORPHA:500150 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, Polymic... |
OMIM:218600 |
Mowat-Wilson Syndrome |
|
Aplasia/Hypoplasia of the cerebral white matter, Abnormal corpus callosum morphology, Microcephal... |
OMIM:235730 |
Degcags Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619488 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thick corpus callosum, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:300967 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Hydrocephalus, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum |
OMIM:305600 |
1P36 Deletion Syndrome |
|
Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
ORPHA:1606 |
Genitopatellar Syndrome |
|
Thin corpus callosum, Microcephaly, Pachygyria, Agenesis of corpus callosum, Colpocephaly |
OMIM:606170 |
Monosomy 22Q13.3 |
|
Agenesis of corpus callosum |
ORPHA:48652 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:264090 |
Coffin-Siris Syndrome 1 |
|
Spina bifida occulta, Partial agenesis of the corpus callosum, Microcephaly, Hypoplasia of the co... |
OMIM:135900 |
Wiedemann-Rautenstrauch Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Abnormal corpus striatum morph... |
ORPHA:3455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Simplified gyral pattern, Partial agenesis of the corpus callosum, Microcephaly, Cerebellar vermi... |
OMIM:220111 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar hypoplasia |
ORPHA:466791 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Lateral ventricle dilatation, Primary microcephaly, Cerebellar hyp... |
ORPHA:261537 |
Peters-Plus Syndrome |
|
Cerebral atrophy, Hydrocephalus, Microcephaly, Agenesis of corpus callosum |
OMIM:261540 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Lateral ventricle dilatation, Primary microcephaly, Cerebellar hyp... |
ORPHA:261552 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93271 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
OMIM:312870 |
Witteveen-Kolk Syndrome |
|
Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Dy... |
OMIM:613406 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebral white matter morphology, Focal white matter lesio... |
ORPHA:2152 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Arrhinencephaly, Microcephaly, Pachygyria... |
OMIM:216340 |
Townes-Brocks Syndrome |
|
Agenesis of corpus callosum |
ORPHA:857 |
Craniofacial Microsomia |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |