Schizencephaly |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly |
OMIM:269160 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... |
OMIM:614039 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... |
OMIM:610031 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Hypoplasia of t... |
OMIM:604213 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Polymicrogyria |
ORPHA:171703 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal ce... |
ORPHA:101029 |
Lissencephaly 3 |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... |
OMIM:611603 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Lissencephaly 4 |
|
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... |
OMIM:614019 |
Corpus Callosum, Agenesis Of |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:217990 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, S... |
OMIM:618492 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Partia... |
OMIM:304100 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Agenesis of corpus callosum |
ORPHA:85334 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis |
OMIM:300864 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microcephaly, Cerebellar hypoplasia, Simplified gyral pattern, Microlissencephaly, Agenesis of co... |
OMIM:617090 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Agenesis o... |
OMIM:218670 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Short stature |
OMIM:616311 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral p... |
OMIM:619302 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Frontal encephalocele, Cerebellar hypoplasia, Arrhinencephaly, Lisse... |
ORPHA:1528 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... |
ORPHA:300573 |
Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Hypoplasia of the pons, Inferi... |
OMIM:618959 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Partial agenesis of the corpus callosum |
OMIM:233810 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... |
ORPHA:255182 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum |
OMIM:616681 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Growth delay, Severe short stature, Intrauterine growth re... |
OMIM:619057 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Short st... |
OMIM:614963 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619466 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum |
OMIM:211200 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Agenesis of corpus callosum |
OMIM:225040 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:612948 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum |
ORPHA:166024 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum |
OMIM:617669 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Simplified gyral pattern, Agenesis of corpus callo... |
OMIM:619301 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:262767 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Short stature |
OMIM:300271 |
Fetal Akinesia Syndrome, X-Linked |
|
Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Insulin-Like Growth Factor I Deficiency |
|
Intrauterine growth retardation, Hyperactivity, Short stature |
OMIM:608747 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:274270 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Type... |
OMIM:613153 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Parietal cortical atrophy, Microcephaly, Frontal cortical atrophy, Agenesis of corpus callosum |
OMIM:618766 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Holoprosencephaly 11 |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:614226 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,... |
OMIM:225790 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology |
OMIM:613724 |
Familial Congenital Mirror Movements |
|
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
Autosomal Recessive Primary Microcephaly |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum, Hypoplasia of the frontal lobes |
ORPHA:2512 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short corpus callosum, Corticospinal tr... |
ORPHA:255138 |
Smith-Magenis syndrome |
|
Hyperactivity, Short stature |
DECIPHER:8 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology, Dysplastic corpus callosum, Short stature |
ORPHA:557003 |
Glycine Encephalopathy |
|
Agenesis of corpus callosum |
OMIM:605899 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:2508 |
Microcephaly, Amish Type |
|
Partial agenesis of the corpus callosum, Progressive microcephaly, Cerebellar hypoplasia |
OMIM:607196 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebral atrophy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of ... |
OMIM:600118 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Spina bifida occulta, Agenesis of c... |
OMIM:618736 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... |
ORPHA:300570 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Microlissencephaly, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Hypoplasia of the... |
OMIM:601160 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Partial agenesis of the corpus callosum, Primary microcephal... |
OMIM:604804 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Basal ganglia cysts, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:312170 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Polydipsia, Reduced circulating prolactin concentration, ... |
ORPHA:95513 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... |
OMIM:164180 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Cortical dysplasia, Type II lissencephaly, Occ... |
OMIM:615287 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebral hypoplasia, Microcephaly, Cerebellar hypoplasia, Neuronal loss in the cerebral cortex, P... |
ORPHA:168486 |
Microhydranencephaly |
|
Microcephaly, Cerebellar hypoplasia, Pachygyria, Hydranencephaly, Agenesis of corpus callosum, Hy... |
OMIM:605013 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum |
OMIM:617127 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Degeneration of the lateral cortico... |
OMIM:604360 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Polymicrogyria, Lissencephaly, ... |
OMIM:614833 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:616342 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Craniosynostosis 6 |
|
Microcephaly, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Abnor... |
OMIM:616602 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:404440 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Dysphagia, T2 hypointense thalamus |
ORPHA:1947 |
Foxg1 Syndrome |
|
Hypoplasia of the corpus callosum, Progressive microcephaly, Pachygyria, Agenesis of corpus callo... |
ORPHA:561854 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Polymicrogyria, Partial agenesis of the corpus callosum, Focal cortical dysplas... |
ORPHA:101030 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Agenesis of corpus callosum |
OMIM:618238 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly |
ORPHA:2570 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:610680 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
OMIM:616212 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the... |
OMIM:618603 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation, Dysphagia, Growth delay, Intrauterine grow... |
ORPHA:135 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Type II lissencephaly, Agyria, Lissencephaly,... |
OMIM:615249 |
Imagawa-Matsumoto Syndrome |
|
Agenesis of corpus callosum, Polymicrogyria |
OMIM:618786 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:182230 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Primary micro... |
ORPHA:89844 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Pri... |
OMIM:616819 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Intrauterine growth retardation, Hyperactivity, Short stature |
OMIM:309548 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum |
ORPHA:1496 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Cerebral hypoplasia, Abnormal basal ganglia morphology, Small basal ganglia, Microcephaly, Cerebe... |
ORPHA:86822 |
Amish Lethal Microcephaly |
|
Microcephaly, Cerebellar vermis hypoplasia, Lissencephaly, Spina bifida, Agenesis of corpus callosum |
ORPHA:99742 |
Fraxe Intellectual Disability |
|
Intrauterine growth retardation, Hyperactivity, Short stature |
ORPHA:100973 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:615286 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Agenesis of corpus callosum |
OMIM:615433 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Cerebral atrophy, Basal ganglia cysts, Microcephaly, Basal ganglia gliosi... |
ORPHA:79243 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:95512 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Dysphagia |
ORPHA:79264 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Agenesis of corpus callosum |
OMIM:610498 |
Baraitser-Winter Syndrome 2 |
|
Pachygyria, Lissencephaly, Secondary microcephaly, Agenesis of corpus callosum |
OMIM:614583 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin corpus callosum, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:619517 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Agenesis of corpus callosum |
OMIM:600638 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the optic tract, Hypoplasia of the pons, Partial agenesi... |
ORPHA:500144 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Occipital encephalocele, Hypoplasia of the p... |
ORPHA:370959 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Microcephaly, Cerebellar vermis hypoplasia, Primary microcephaly, Agenesis of corpus callosum |
ORPHA:466688 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy |
OMIM:207950 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dysphagia, Growth delay, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, Delayed puberty, Short stature |
ORPHA:2959 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:245349 |
Holoprosencephaly 7 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef... |
OMIM:610828 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619989 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage |
OMIM:142946 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Agenesis of corpus callosum, Pericallosal... |
OMIM:136760 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:218350 |
Leigh Syndrome With Cardiomyopathy |
|
Dysphagia, Abnormality of thalamus morphology |
ORPHA:70474 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebral white matter morphology, Abnormal periven... |
OMIM:618476 |
Maternal Uniparental Disomy Of Chromosome X |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261519 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum |
OMIM:607131 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology |
ORPHA:88619 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:521308 |
Neuroferritinopathy |
|
Dysphagia, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus |
ORPHA:157846 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Hydranencephaly |
|
Atrophic pituitary gland, Dysgenesis of the thalamus, Postnatal growth retardation, Thalamic edem... |
ORPHA:2177 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:616362 |
Mental Retardation, Buenos Aires Type |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus |
OMIM:249630 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Hydrocephalus, Postnatal growth retardation, Abnormal hyp... |
ORPHA:54595 |
6Q25 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:251056 |
Rhombencephalosynapsis |
|
Hydrocephalus, Fusion of the left and right thalami |
ORPHA:59315 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618142 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:603671 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300215 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Basal ganglia calcification, Microcephaly, Cerebellar hypoplasia, Diffuse cerebral atrophy, Agene... |
OMIM:214150 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:618346 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity, Dysphagia, Growth delay, Intrauterine growth retardation,... |
ORPHA:506 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... |
ORPHA:231720 |
Meckel Syndrome 12 |
|
Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:616258 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Basal ganglia cysts, Agenesis of corpus callosum |
OMIM:613623 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
Hydrolethalus |
|
Hydrocephalus, Absent septum pellucidum, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:2189 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Thin corpus callosum, Partial agenesis of the corpus callosum |
OMIM:619653 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume, Postnatal growth retardation, Communicating hydrocephalus, Short stature |
ORPHA:168577 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly |
ORPHA:990 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Pore... |
OMIM:613001 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Encephalocele, Optic nerve hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Hypo... |
OMIM:614643 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Macrogyria, Microcephaly, Cerebellar hypoplasia, Abnormal cortical gyration, Polym... |
ORPHA:899 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:616239 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Corpus callosum atrophy, Simplified gyral pa... |
OMIM:619244 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Polyphagia, Hyperactivity |
OMIM:275000 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology |
ORPHA:79139 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum |
OMIM:619074 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Agenesis of corpus callosum |
OMIM:218000 |
Isolated Arrhinia |
|
Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... |
ORPHA:1134 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of corpus callosum, Agenesis of cerebellar vermis |
ORPHA:228390 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Holoprosencephaly |
ORPHA:2165 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Cortical dysplasia, Polymicrogyria, Partial... |
ORPHA:1136 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Encephalocele, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Type II l... |
OMIM:253800 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum |
ORPHA:452 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Curry-Jones Syndrome |
|
Megalencephaly, Hemimegalencephaly, Agenesis of corpus callosum, Polymicrogyria |
OMIM:601707 |
Fumarase Deficiency |
|
Cerebral atrophy, Open operculum, Microcephaly, Polymicrogyria, Agenesis of corpus callosum, Hypo... |
OMIM:606812 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Pachygyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:243310 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ... |
OMIM:609053 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum |
OMIM:300952 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Progressive microcephaly, Hyperin... |
ORPHA:481152 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypo... |
OMIM:613150 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus ca... |
ORPHA:220497 |
Agnathia-Otocephaly Complex |
|
Agenesis of corpus callosum, Holoprosencephaly |
OMIM:202650 |
Vici Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Hypoplasia of the pons, Cerebellar hypopl... |
ORPHA:1493 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Primary microcephal... |
OMIM:616051 |
Braddock-Carey Syndrome 1 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619980 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Small cerebral cortex, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida occulta, Per... |
OMIM:617360 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613735 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
1Q44 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:238769 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebral cortical atrophy, Microcephaly, Cerebellar vermis hypoplasia, Thin corpus callosum, Agen... |
OMIM:619720 |
Ring Chromosome 22 Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:1446 |
Temtamy Syndrome |
|
Agenesis of corpus callosum |
OMIM:218340 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum |
OMIM:613174 |
Marden-Walker Syndrome |
|
Microcephaly, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Agenesis of corpus ca... |
OMIM:248700 |
Meningioma |
|
Enlarged pituitary gland, Hydrocephalus, Reduced circulating prolactin concentration, Hypothalami... |
ORPHA:2495 |
Microgastria-Limb Reduction Defects Association |
|
Agenesis of corpus callosum, Fusion of the left and right thalami, Arrhinencephaly |
OMIM:156810 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure |
OMIM:616975 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Hyperactivity, Short stature, Severe postnatal growth ret... |
ORPHA:73272 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon, Short stature |
ORPHA:2720 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:612940 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebral hypoplasia, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M... |
ORPHA:468631 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Agenesis of corpus callosum, Inferior cerebellar vermis hypoplasia |
ORPHA:139471 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261144 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Tay-Sachs Disease |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus ca... |
ORPHA:220493 |
Emanuel Syndrome |
|
Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cerebral white matter morphology, Agenesi... |
ORPHA:96170 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Desmosterolosis |
|
Hydrocephalus, Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyration,... |
ORPHA:35107 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:300004 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Hypop... |
OMIM:236670 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormal basal ganglia morphology, Hydrocephalus, Cerebral calcification, Polymicrogyria, Cerebel... |
ORPHA:157 |
Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Polymicrogyria, Encephaloc... |
OMIM:264480 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Isolated Exencephaly |
|
Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly |
ORPHA:563612 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Probst bundles, Agenesis of corpus callosum |
OMIM:612863 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:619435 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, ... |
OMIM:615802 |
Septo-Optic Dysplasia Spectrum |
|
Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebellum, Septo-opt... |
ORPHA:3157 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... |
OMIM:619103 |
Intellectual Disability-Strabismus Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:363528 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Agenesis of corpus callos... |
ORPHA:96147 |
Radio-Tartaglia Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Microcephaly, Agenesis of corpus callosum |
OMIM:612337 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Hypoplasia of the olfactory bulb, Agenesis of corpus callosum, Meningocele |
ORPHA:1827 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
Curry-Jones Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1553 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal basal ganglia morphology, Hydrocephalus, Cerebral calcification, Polymicrogyria, Cerebel... |
ORPHA:228308 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Microcephaly, Cerebral cortical atrophy |
OMIM:234050 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Cerebellar vermis hy... |
ORPHA:314679 |
Stromme Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cerebellar vermis hyp... |
OMIM:243605 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia |
ORPHA:3301 |
Halperin-Birk Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Semilobar holoprosencephaly |
OMIM:618651 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618109 |
Congenital Disorder Of Deglycosylation 2 |
|
Thin corpus callosum, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Poly... |
OMIM:619775 |
Birk-Landau-Perez Syndrome |
|
Microcephaly, Pachygyria, Agenesis of corpus callosum |
OMIM:617595 |
Microform Holoprosencephaly |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:280200 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microcephaly, Anencephaly, Encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum |
ORPHA:1812 |
Bohring-Opitz Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dandy-Walker malfor... |
OMIM:605039 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:617260 |
16P13.11 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:261236 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum |
OMIM:618929 |
Holoprosencephaly 14 |
|
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Microcephaly, Pa... |
OMIM:619895 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Basal ganglia cysts, Microcephaly, Polymicrogyria, Intracerebral periventricular calcifications, ... |
OMIM:608836 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Agenesis of corpus callosum |
ORPHA:52055 |
Duplication Of The Pituitary Gland |
|
Microcephaly, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Encephalocele |
ORPHA:314621 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Cerebral atrophy |
OMIM:617296 |
Thakker-Donnai Syndrome |
|
Agenesis of corpus callosum, Communicating hydrocephalus |
ORPHA:1780 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Hypoplasia of the corpus callosum, Later... |
ORPHA:464738 |
Mosaic Trisomy 1 |
|
Cerebellar hypoplasia, Polymicrogyria, Lateral ventricle dilatation, Cerebellar vermis hypoplasia... |
ORPHA:1692 |
Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Optic nerve hypoplasia, Microcephaly, Septo-optic dysplasia, Semilobar ... |
OMIM:301043 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hypodysplasia of the cor... |
OMIM:257300 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:217980 |
Monosomy 13Q34 |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:96168 |
Desmosterolosis |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c... |
OMIM:602398 |
Apert Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:87 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hydrocephalus, Aqueductal stenosis, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, ... |
OMIM:619512 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Semilobar holoprosencephaly, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:556955 |
Orofaciodigital Syndrome Type 5 |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:2919 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Vici Syndrome |
|
Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Schizencephaly |
OMIM:242840 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopontocerebellar hy... |
ORPHA:457284 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Agenesis of corpus callosum |
OMIM:300472 |
Kleefstra Syndrome |
|
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:261494 |
Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Alexander Disease |
|
Hydrocephalus, Aqueductal stenosis, Cerebral calcification, Megalencephaly, Agenesis of corpus ca... |
ORPHA:58 |
Xp21 Deletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:261476 |
Genitopatellar Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:85201 |
8P Inverted Duplication/Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:96092 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Hyperactivity |
ORPHA:85327 |
Pyruvate Carboxylase Deficiency |
|
Basal ganglia gliosis, Cerebral white matter atrophy, Periventricular cysts, Hyperintensity of ce... |
ORPHA:3008 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
15Q Overgrowth Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:314585 |
Melas |
|
Cerebral cortical atrophy, Basal ganglia calcification, Aplasia/Hypoplasia of the cerebral white ... |
ORPHA:550 |
1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:250989 |
Opitz Gbbb Syndrome |
|
Microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:300000 |
Sotos Syndrome |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum |
OMIM:117550 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Microcephaly, Agenesis of corpus callosum |
ORPHA:261323 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Holoprosencephaly, Agenesis of corpus callosum, Polymicrogyria, Secon... |
OMIM:618820 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:847 |
Neuromuscular Oculoauditory Syndrome |
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Agenesis of corpus callosum |
OMIM:618733 |
Fryns Syndrome |
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Cerebral cortical atrophy, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2059 |
Encephalocraniocutaneous Lipomatosis |
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Cerebral cortical atrophy, Cerebral atrophy, Cerebral calcification, Agenesis of corpus callosum,... |
ORPHA:2396 |
Orofaciodigital Syndrome I |
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Myelomeningocele, Hydrocephalus, Cerebral atrophy, Microcephaly, Abnormal cortical gyration, Pore... |
OMIM:311200 |
Orofaciodigital Syndrome V |
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Microcephaly, Agenesis of corpus callosum |
OMIM:174300 |
Brain-Lung-Thyroid Syndrome |
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Cavum septum pellucidum, Microcephaly, Agenesis of corpus callosum |
ORPHA:209905 |
Apert Syndrome |
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Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Megalencephaly, Agenesis of corpu... |
OMIM:101200 |
Mycophenolate Mofetil Embryopathy |
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Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Cono-Spondylar Dysplasia |
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Partial agenesis of the corpus callosum |
ORPHA:420794 |
Marshall-Smith Syndrome |
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Hydrocephalus, Cerebral atrophy, Absent septum pellucidum, Optic nerve hypoplasia, Agenesis of co... |
OMIM:602535 |
Fanconi Anemia, Complementation Group D2 |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:227646 |
Right Atrial Isomerism |
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Agenesis of corpus callosum |
OMIM:208530 |
Craniofrontonasal Syndrome |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Hartsfield Syndrome |
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Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum |
OMIM:615465 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Hypoplastic anterior co... |
ORPHA:261552 |
Opitz Gbbb Syndrome |
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Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Hypoplasia of the corpus callosum, Age... |
ORPHA:2745 |
Mosaic Trisomy 8 |
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Agenesis of corpus callosum |
ORPHA:96061 |
Toriello-Lacassie-Droste Syndrome |
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Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Periventri... |
ORPHA:508498 |
Aicardi Syndrome |
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Cavum septum pellucidum, Microcephaly, Polymicrogyria, Partial agenesis of the corpus callosum, C... |
OMIM:304050 |
Trichothiodystrophy |
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Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Partial agenesis of the corpus ... |
ORPHA:33364 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
Microphthalmia, Syndromic 3 |
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Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:206900 |
Marden-Walker Syndrome |
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Hydrocephalus, Absent septum pellucidum, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus ... |
ORPHA:2461 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Dysphagia, Lateral ventricle dilatation, Hypothalamic atrophy |
ORPHA:2822 |
Chromosome 13Q14 Deletion Syndrome |
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Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpus callosum, Holopro... |
OMIM:613884 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619418 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Bohring-Opitz Syndrome |
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Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus ca... |
ORPHA:97297 |
Trisomy 8P |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:264450 |
Lenz-Majewski Hyperostotic Dwarfism |
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Microcephaly, Agenesis of corpus callosum |
OMIM:151050 |
Opitz-Kaveggia Syndrome |
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Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Agenesis of corpus callosum |
OMIM:613091 |
Microgastria-Limb Reduction Defect Syndrome |
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Arrhinencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Mismatch Repair Cancer Syndrome 1 |
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Agenesis of corpus callosum |
OMIM:276300 |
Facial Dysmorphism With Multiple Malformations |
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Hydrocephalus, Agenesis of corpus callosum |
OMIM:227255 |
Meckel Syndrome, Type 1 |
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Cerebral hypoplasia, Hydrocephalus, Microcephaly, Anencephaly, Cerebellar hypoplasia, Occipital e... |
OMIM:249000 |
Holoprosencephaly 9 |
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Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Microcephaly, Abnormal cortical gyratio... |
OMIM:610829 |
Jacobsen Syndrome |
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Pachygyria, Spina bifida, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:2308 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:352665 |
Aicardi Syndrome |
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Microcephaly, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Partial agenesis of the corpu... |
ORPHA:50 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Cranium bifidum occultum, Agenesis of corpus callosum, Pericallosal lipoma |
ORPHA:306542 |
Holoprosencephaly 1 |
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Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Cerebellar hypoplasia, Agenesis of corpus c... |
OMIM:236100 |
Histiocytoid Cardiomyopathy |
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Hydrocephalus, Agenesis of corpus callosum |
ORPHA:137675 |
Osteopathia Striata With Cranial Sclerosis |
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Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta |
OMIM:300373 |
Acrocallosal Syndrome |
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Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Perlman Syndrome |
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Agenesis of corpus callosum |
OMIM:267000 |
Coffin-Siris Syndrome |
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Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:1465 |
Phace Syndrome |
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Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... |
ORPHA:42775 |
Hydrolethalus Syndrome 1 |
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Absent septum pellucidum, Anencephaly, Arrhinencephaly, Abnormal cortical gyration, Severe hydroc... |
OMIM:236680 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Agenesis of corpus callosum |
OMIM:618419 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2658 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Agenesis of corpus ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hydrocephalus, Microcephaly, Hypoplasia of the corpus callosum, Spina bifida, Agenesis of corpus ... |
ORPHA:363958 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Neu-Laxova Syndrome 1 |
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Spina bifida, Microcephaly, Cerebellar hypoplasia, Lissencephaly, Hydranencephaly, Agenesis of co... |
OMIM:256520 |
Smith-Lemli-Opitz Syndrome |
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Hydrocephalus, Hypoplasia of the frontal lobes, Holoprosencephaly, Microcephaly, Hypoplasia of th... |
OMIM:270400 |
Fryns Syndrome |
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Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tract, Agenesis of corpus... |
OMIM:229850 |
Holoprosencephaly 2 |
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Alobar holoprosencephaly, Holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Semilobar holop... |
OMIM:157170 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hypoplasia of the frontal lobes, Microcephaly, Agenesis of cerebellar vermis, Pachygyria, Agenesi... |
OMIM:210710 |
14Q22Q23 Microdeletion Syndrome |
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Agenesis of corpus callosum |
ORPHA:264200 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2556 |
Wolf-Hirschhorn Syndrome |
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Microcephaly, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellum |
ORPHA:280 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Agenesis of corpus callosum |
ORPHA:289548 |
Baller-Gerold Syndrome |
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Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymicrogyria |
OMIM:218600 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Thin corpus callosum, Partial agenesis of the corpus callosum, Spina bifida |
OMIM:619480 |
Monosomy 9P |
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Microcephaly, Agenesis of corpus callosum |
ORPHA:261112 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Microcephaly, Communicating hydrocephalus, Cerebellar vermis hypoplasia, Septo-optic dysplasia, A... |
OMIM:619841 |
Ring Chromosome 13 Syndrome |
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Microcephaly, Anencephaly, Agenesis of corpus callosum |
ORPHA:96176 |
Rubinstein-Taybi Syndrome 1 |
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Microcephaly, Spina bifida occulta, Hyperintensity of cerebral white matter on MRI, Spina bifida,... |
OMIM:180849 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Agenesis of corpus callosum |
OMIM:618748 |
Semilobar Holoprosencephaly |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Neural tube defect |
ORPHA:93924 |
Orofaciodigital Syndrome Type 1 |
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Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Yunis-Varon Syndrome |
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Hydrocephalus, Hypoplasia of the frontal lobes, Arrhinencephaly, Cerebellar hypoplasia, Primary m... |
ORPHA:3472 |
Gabriele-De Vries Syndrome |
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Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
ORPHA:506358 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Leukoencephalopathy, Hydrocephalus, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the co... |
OMIM:607872 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Holoprosencephaly, Absent septum pellucidum, Optic nerve hypoplasia, Septo-optic dysplasia, Agene... |
ORPHA:95494 |
Orofaciodigital Syndrome Type 14 |
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Open operculum, Microcephaly, Hypoplasia of the corpus callosum, Partial agenesis of the corpus c... |
ORPHA:434179 |
Wolf-Hirschhorn Syndrome |
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Hydrocephalus, Absent septum pellucidum, Cavum septum pellucidum, Microcephaly, Periventricular c... |
OMIM:194190 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Microcephaly, Cerebellar hypoplasia, Ag... |
ORPHA:2273 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia, Agenesis of corpus callosum |
ORPHA:226307 |
Simpson-Golabi-Behmel Syndrome |
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Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Degcags Syndrome |
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Microcephaly, Agenesis of corpus callosum |
OMIM:619488 |
Focal Dermal Hypoplasia |
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Myelomeningocele, Hydrocephalus, Microcephaly, Spina bifida occulta, Agenesis of corpus callosum |
OMIM:305600 |
1P36 Deletion Syndrome |
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Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum |
ORPHA:1606 |
Mowat-Wilson Syndrome |
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Large basal ganglia, Aplasia/Hypoplasia of the cerebral white matter, Microcephaly, Hypoplasia of... |
OMIM:235730 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal hypothalamus morphology |
ORPHA:68 |
Wiedemann-Rautenstrauch Syndrome |
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Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:264090 |
Genitopatellar Syndrome |
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Microcephaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Williams Syndrome |
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Attention deficit hyperactivity disorder, Abnormality of the diencephalon, Spina bifida occulta, ... |
ORPHA:904 |
Coffin-Siris Syndrome 1 |
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Microcephaly, Spina bifida occulta, Hypoplasia of the corpus callosum, Partial agenesis of the co... |
OMIM:135900 |
Monosomy 22Q13.3 |
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Agenesis of corpus callosum |
ORPHA:48652 |
Wiedemann-Rautenstrauch Syndrome |
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Hydrocephalus, Abnormal corpus striatum morphology, Cerebellar hypoplasia, Polymicrogyria, Agenes... |
ORPHA:3455 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Cerebellar hypoplasia, ... |
ORPHA:261537 |
Norrie Disease |
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Attention deficit hyperactivity disorder, Abnormality of the diencephalon, Delayed puberty |
ORPHA:649 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Peters-Plus Syndrome |
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Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:261540 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
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Agenesis of corpus callosum |
OMIM:218649 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:312870 |
Mowat-Wilson Syndrome |
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Focal white matter lesions, Large basal ganglia, Microcephaly, Hypoplasia of the corpus callosum,... |
ORPHA:2152 |
Yunis-Varon Syndrome |
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Hypoplasia of the frontal lobes, Microcephaly, Arrhinencephaly, Hypoplasia of the corpus callosum... |
OMIM:216340 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:93271 |
Townes-Brocks Syndrome |
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Agenesis of corpus callosum |
ORPHA:857 |
Craniofacial Microsomia |
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Hydrocephalus, Occipital encephalocele, Agenesis of corpus callosum |
OMIM:164210 |