Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex 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 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence... |
OMIM:611603 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Lissencephaly, X-Linked, 1 |
|
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
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 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum |
OMIM:300073 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral pattern, Hypoplasia of t... |
OMIM:619302 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... |
ORPHA:1528 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:617090 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:618286 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... |
OMIM:618959 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:620200 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum |
OMIM:619466 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:616570 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... |
OMIM:304100 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:619301 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior ... |
ORPHA:171680 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Refractory Celiac Disease |
|
Hypomagnesemia, Autoimmune antibody positivity, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, ... |
ORPHA:398063 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly |
OMIM:616681 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Hypoplasia of the pons, Dysplastic corpus callosum, Global brain atrophy, Microcephaly |
OMIM:618276 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Periventricular leukomalacia, Agenesis of corpus callosum |
OMIM:618324 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... |
OMIM:617542 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly |
OMIM:618766 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... |
ORPHA:255138 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... |
OMIM:615095 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:616171 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum |
OMIM:605899 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Anti-thyroid peroxidase a... |
ORPHA:37042 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... |
OMIM:614833 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... |
OMIM:164180 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Cerebral atrophy, Cerebel... |
OMIM:600118 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria |
OMIM:616342 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... |
OMIM:616212 |
Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
Coach Syndrome 2 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:619111 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... |
OMIM:604360 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
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 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o... |
ORPHA:168486 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ... |
ORPHA:79243 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Foxg1 Syndrome |
|
Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Progressive microceph... |
ORPHA:561854 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... |
OMIM:607196 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
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 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co... |
OMIM:620316 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... |
OMIM:619517 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly... |
OMIM:615249 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypoplasia of the corpus cal... |
ORPHA:89844 |
Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:617695 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Craniosynostosis 6 |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:616602 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum |
OMIM:610498 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300887 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619989 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:466688 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
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 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:615433 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia cysts, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:312170 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto... |
ORPHA:370959 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ... |
ORPHA:2524 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:218350 |
Maternal Uniparental Disomy Of Chromosome X |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:521308 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... |
OMIM:136760 |
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 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616362 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:618346 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Autoimmunity, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Fg Syndrome 3 |
|
Agenesis of corpus callosum |
OMIM:300406 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly |
OMIM:618142 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia |
OMIM:248190 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
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 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum |
ORPHA:99742 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619074 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:990 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly |
ORPHA:452 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... |
OMIM:214150 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... |
ORPHA:300570 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Gitelman Syndrome |
|
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hashimoto thyroiditis |
ORPHA:358 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:613001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hypoplasia of the pyramidal tract, Pachygyria, Hydrocephalus, Hypoplasia of the br... |
OMIM:253800 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Agnathia-Otocephaly Complex |
|
Agenesis of corpus callosum, Holoprosencephaly |
OMIM:202650 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Partial agenesis of the... |
OMIM:614643 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... |
ORPHA:899 |
Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum |
OMIM:218000 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... |
OMIM:620352 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616239 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... |
ORPHA:481152 |
Temtamy Syndrome |
|
Agenesis of corpus callosum, Thick corpus callosum |
OMIM:218340 |
Immunodeficiency 49 |
|
Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume |
OMIM:617237 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermis, Hypoplasia of t... |
OMIM:613150 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:563612 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619980 |
Ring Chromosome 22 Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:1446 |
Vici Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of corpus callosum, Cerebral cortical atr... |
ORPHA:1493 |
Baraitser-Winter Syndrome 1 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
OMIM:243310 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... |
ORPHA:220497 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613735 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:238769 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Hydrocephalus, Cerebellar hypoplasia, Hyperintensity of cerebral white ma... |
OMIM:618476 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ... |
OMIM:609053 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... |
OMIM:620073 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:300004 |
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 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
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 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1553 |
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 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... |
OMIM:619720 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th... |
ORPHA:3157 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc... |
ORPHA:357058 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal ganglia calcification, ... |
OMIM:617281 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... |
ORPHA:157 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Marden-Walker Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:615802 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... |
ORPHA:220493 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus |
OMIM:612863 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum |
OMIM:613174 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly,... |
OMIM:236670 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebellar hypoplasia, Co... |
ORPHA:468631 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Agenesis of corpus callosum, Hypoplasia of the olfactory bulb |
ORPHA:1827 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... |
OMIM:616449 |
Desmosterolosis |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... |
ORPHA:35107 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... |
OMIM:264480 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618109 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Curry-Jones Syndrome |
|
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... |
OMIM:601707 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:619435 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612337 |
Birk-Landau-Perez Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly |
OMIM:617595 |
Emanuel Syndrome |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Agenesi... |
ORPHA:96170 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... |
ORPHA:96147 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu... |
OMIM:619775 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus |
ORPHA:3301 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation |
OMIM:617296 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... |
ORPHA:314679 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Intellectual Disability-Strabismus Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:363528 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hyp... |
OMIM:243605 |
Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly |
OMIM:618651 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:1812 |
Microform Holoprosencephaly |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
ORPHA:280200 |
Holoprosencephaly 14 |
|
Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag... |
OMIM:619895 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Dandy-W... |
OMIM:257300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum |
OMIM:618929 |
16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
ORPHA:261236 |
Toriello-Carey Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasia of the corpus... |
ORPHA:3338 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly |
ORPHA:314621 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Hypoplasia of the corpu... |
OMIM:603671 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617260 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Fumarase Deficiency |
|
Microcephaly, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymicrogyria, Agene... |
OMIM:606812 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Bohring-Opitz Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:605039 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... |
OMIM:618500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia cysts, Polymicrogyria, ... |
OMIM:608836 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... |
OMIM:301043 |
Endocrine-Cerebroosteodysplasia |
|
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... |
OMIM:612651 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:217980 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Agenesis of corpus callosum |
OMIM:300472 |
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 Type 5 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:2919 |
Desmosterolosis |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c... |
OMIM:602398 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum, Thin co... |
OMIM:613457 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... |
OMIM:620305 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:261476 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:87 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu... |
OMIM:619512 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L... |
OMIM:610828 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum |
ORPHA:420794 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:85201 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis... |
OMIM:277170 |
Alexander Disease |
|
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca... |
ORPHA:58 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:250989 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum |
OMIM:618733 |
Opitz Gbbb Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:300000 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Hartsfield Syndrome |
|
Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... |
OMIM:615465 |
8P Inverted Duplication/Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:96092 |
Kleefstra Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:261494 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten... |
ORPHA:3008 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:174300 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261323 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Sotos Syndrome |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum |
OMIM:117550 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... |
OMIM:236100 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Melas |
|
Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Hypoplasia of the c... |
ORPHA:550 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... |
ORPHA:2396 |
Fryns Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation |
ORPHA:2059 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic... |
OMIM:614866 |
Apert Syndrome |
|
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... |
OMIM:101200 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:847 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Brain-Lung-Thyroid Syndrome |
|
Cavum septum pellucidum, Agenesis of corpus callosum, Microcephaly |
ORPHA:209905 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... |
OMIM:311200 |
Marshall-Smith Syndrome |
|
Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce... |
OMIM:602535 |
Chromosome 13Q14 Deletion Syndrome |
|
Holoprosencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpu... |
OMIM:613884 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:227646 |
Opitz Gbbb Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the corpus callosum, Age... |
ORPHA:2745 |
Microphthalmia, Syndromic 3 |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:206900 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum |
OMIM:276300 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri... |
ORPHA:508498 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ... |
ORPHA:2461 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... |
OMIM:210710 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum |
OMIM:613091 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l... |
ORPHA:33364 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619418 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:242840 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis... |
OMIM:610829 |
Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microc... |
ORPHA:97297 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... |
OMIM:615948 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... |
ORPHA:42775 |
Perlman Syndrome |
|
Agenesis of corpus callosum |
OMIM:267000 |
Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... |
ORPHA:50 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dandy-W... |
OMIM:249000 |
Coffin-Siris Syndrome 4 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum |
OMIM:618419 |
Jacobsen Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Cerebral atrophy, Spina bifida |
ORPHA:2308 |
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 |
Coffin-Siris Syndrome |
|
Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly |
ORPHA:1465 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Osteopathia Striata With Cranial Sclerosis |
|
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus |
OMIM:300373 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... |
OMIM:157170 |
14Q22Q23 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:264200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363958 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum |
OMIM:618748 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida |
OMIM:619480 |
Acrocallosal Syndrome |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis... |
OMIM:236680 |
Monosomy 9P |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
Fryns Syndrome |
|
Hypoplasia of olfactory tract, Hypoplasia of the optic tract, Agenesis of corpus callosum, Dandy-... |
OMIM:229850 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dandy-Walker malformation, Microcephaly, Partial agenesis of the corpus... |
OMIM:270400 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Lissencephaly, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Agenes... |
OMIM:256520 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly |
ORPHA:280 |
Orofaciodigital Syndrome Type 1 |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly |
ORPHA:2556 |
Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:93924 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... |
ORPHA:95494 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Orofaciodigital Syndrome Type 14 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W... |
ORPHA:434179 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Hyp... |
OMIM:617140 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, A... |
OMIM:619841 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
ORPHA:506358 |
Rubinstein-Taybi Syndrome 1 |
|
Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,... |
OMIM:180849 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Pachygyria, Hydrocephalus, Leukoencephalopathy, Lateral ventricle dilatation, Hypop... |
OMIM:607872 |
Wolf-Hirschhorn Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc... |
OMIM:194190 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pach... |
ORPHA:3472 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... |
ORPHA:2273 |
Simpson-Golabi-Behmel Syndrome |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral w... |
ORPHA:500150 |
Mowat-Wilson Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... |
OMIM:235730 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymic... |
OMIM:218600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Monosomy 22Q13.3 |
|
Agenesis of corpus callosum |
ORPHA:48652 |
Degcags Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619488 |
Focal Dermal Hypoplasia |
|
Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:305600 |
1P36 Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:1606 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:264090 |
Coffin-Siris Syndrome 1 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b... |
OMIM:135900 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, ... |
OMIM:220111 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpu... |
ORPHA:3455 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... |
ORPHA:261552 |
Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:261540 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:93271 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:312870 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha... |
ORPHA:2152 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co... |
OMIM:216340 |
Townes-Brocks Syndrome |
|
Agenesis of corpus callosum |
ORPHA:857 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |