Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebral calcification, Postural tremor, Basal ganglia calcification, Chorea, Hand tremor, Depres... |
OMIM:615483 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... |
ORPHA:500166 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Cognitive impairment, E... |
ORPHA:397725 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Basal ganglia calcification, Dysmetria, Thalamic calcification, Dys... |
OMIM:618317 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Basal ganglia calcification, Limb ataxia, Thalamic calcification, Limb dyst... |
OMIM:618824 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Abnormal putamen morphology, T2 hypointense thal... |
ORPHA:157846 |
Spinocerebellar Ataxia With Epilepsy |
|
Cerebral infarct, Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depressio... |
ORPHA:254881 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Demen... |
OMIM:618193 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Leukoencephalopathy, Hand tremor, Depression, Lateral ventricle dilatation, Dementia, Dys... |
OMIM:615889 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Ataxia, Microcephaly, Attention deficit hyperactivity disorder, Abnormality of ... |
ORPHA:467166 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... |
OMIM:604213 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... |
ORPHA:300573 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Delayed early-childhood social milestone development, Si... |
ORPHA:300570 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Cognitive impairment |
ORPHA:324422 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... |
OMIM:614019 |
Cach Syndrome |
|
Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, Dysmetria, Limb atax... |
ORPHA:135 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... |
OMIM:620317 |
Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Dystonia |
ORPHA:599373 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, T2 hypointense thalamus, Cerebral atrophy, Gait ataxia, Dementia, Cognitive impairment, H... |
ORPHA:1947 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... |
OMIM:620315 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Leukoencephalopathy, Focal T2 hyperintense thalamic le... |
OMIM:613724 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly, Ataxia, Dystonia |
OMIM:618276 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology, Dystonia |
OMIM:618646 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... |
OMIM:617542 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Focal T2 hyperintense th... |
ORPHA:79264 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Progressive neurologic deterioration, Dysplastic corpus ca... |
OMIM:252650 |
Alexander Disease Type I |
|
Ataxia, Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter mor... |
ORPHA:363717 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Basal ganglia calcification, Cerebral atrophy, Leukoencephalopathy, Frontal lobe... |
OMIM:221770 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Dysplastic corpus callosum, Secondary microce... |
OMIM:619737 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions |
ORPHA:557003 |
Central Neurocytoma |
|
Pain insensitivity, Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydroc... |
ORPHA:73256 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callo... |
OMIM:619072 |
Aceruloplasminemia |
|
Torticollis, Abnormal corpus striatum morphology, Ataxia, Tremor, Chorea, Abnormal thalamic MRI s... |
ORPHA:48818 |
New-Onset Refractory Status Epilepticus |
|
Abnormal basal ganglia MRI signal intensity, Confusion, Abnormal thalamic MRI signal intensity, C... |
ORPHA:363558 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr... |
ORPHA:309246 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Hypointensity of cerebral white matter on MRI, Ataxia, Confusion, Di... |
ORPHA:83597 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Hypointensity of cerebral white matter on MRI... |
ORPHA:845 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... |
ORPHA:171680 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Ataxia, Lateral ventricle dilatation, Secondary microcephaly,... |
OMIM:617854 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Abnormal thalamic MRI signal intensity, Distal sensory impairment, Abnormal cerebral whit... |
ORPHA:254930 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume |
OMIM:613668 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Abnormal substantia nigra morphology, Ataxia, Hyperintensity of cerebral wh... |
ORPHA:2822 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Diffuse white matter abnormalities, Hyd... |
ORPHA:370959 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Depression, Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Dystonia |
ORPHA:306669 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Gait ataxia |
ORPHA:488635 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy... |
ORPHA:79243 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Ataxia, Progressive ... |
ORPHA:506 |
Japanese Encephalitis |
|
Abnormal substantia nigra morphology, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor,... |
ORPHA:79139 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity, Cognitive im... |
ORPHA:444013 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy |
OMIM:619057 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Cerebral white matter atrophy, Abnormal thalamus morphology, Attention deficit hyperactiv... |
ORPHA:435638 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... |
ORPHA:2185 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Hand tremor, Lateral ventricle... |
OMIM:607596 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... |
OMIM:617668 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Hypoplasia ... |
OMIM:616034 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Ch... |
ORPHA:2524 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation |
ORPHA:101071 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Attention deficit hyperactivity disorder |
ORPHA:404440 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Paresthesia, Cognitive impairment, Microcephaly |
ORPHA:2959 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Cerebral white matter atrophy, Irritability, Abnormal caudate nucleus morphology, Lateral ventric... |
ORPHA:2148 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Opisthotonus, Irritability, Colpocephaly, Secondary microce... |
OMIM:620352 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly |
OMIM:618266 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Microcephaly, Chorea, Irritability, Hypoplasi... |
OMIM:617864 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... |
OMIM:616900 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:619955 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... |
OMIM:619517 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Emotional lability, Pituitary hypothyroidism, Decreased respons... |
OMIM:614963 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Alg2-Cdg |
|
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... |
ORPHA:79326 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Dysplastic corpus callosum, Athetosis, S... |
ORPHA:357058 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Frontotemporal dementia, Lateral ventricle dilatation, Progressive langu... |
OMIM:607485 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Ataxia, Hydrocephalus, Fusion of the left and right thalami, Ventriculomegaly |
ORPHA:59315 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema |
ORPHA:88619 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... |
OMIM:613443 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619420 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum |
OMIM:614833 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:618736 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Meningioma |
|
Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Neoplasm of the anterior pituitary... |
ORPHA:2495 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Agenesis of corpus callosum, Attention deficit hyperactivity disorder |
OMIM:618929 |
Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebral calcification, Ventriculomegaly, Microcephaly, Basal gangl... |
OMIM:617281 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Ataxia |
OMIM:619046 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Microcephaly, Hydrocephalus, Irritability, Colpocephaly, Periventricular leukomalacia, Th... |
OMIM:619833 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation... |
ORPHA:208447 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... |
ORPHA:488627 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Probst bundles, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished abi... |
OMIM:612863 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:616602 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... |
ORPHA:284417 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Ventriculomegaly, Reduce... |
OMIM:615574 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria, Microcephaly |
OMIM:618731 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Cerebral atrophy, Dementia, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum |
OMIM:618619 |
Hydranencephaly |
|
Ventriculomegaly, Thalamic edema, Opisthotonus, Cerebral cortical atrophy, Primary microcephaly, ... |
ORPHA:2177 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Ataxia, Lateral ventricle dilatation, T... |
OMIM:608629 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Microcephaly, Co... |
OMIM:609053 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... |
OMIM:615219 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Leg dystonia, Cerebral at... |
ORPHA:565624 |
Pontocerebellar Hypoplasia, Type 13 |
|
Microcephaly, Gait ataxia, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dandy... |
OMIM:618606 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Holoprosencephaly 5 |
|
Lateral ventricle dilatation, Hydrocephalus, Microcephaly |
OMIM:609637 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dystonia, Thin cor... |
OMIM:614105 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Secondary microcephaly, Abnormal thalamic MRI signal... |
ORPHA:485421 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukoencephalopathy, Athet... |
ORPHA:572798 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly |
OMIM:615716 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... |
OMIM:617296 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Lissencep... |
OMIM:253800 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Ventriculomegaly, Abnormal cortical gyration, Cessation of head gro... |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Ataxia, Microcephaly, Dystonia |
ORPHA:438216 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia, Irritability, Secondary microcephaly, Abnormal periventricu... |
OMIM:616881 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Secondary microcephaly, Dilated fourth ventricle, Hypoplasi... |
OMIM:619306 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:420179 |
Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Panhypopituitarism, Fusion ... |
OMIM:610828 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... |
OMIM:617751 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ... |
ORPHA:168577 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ... |
OMIM:617260 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Age... |
OMIM:614924 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria |
OMIM:614219 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Distal sensory impairment |
OMIM:256850 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... |
ORPHA:314621 |
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 |
Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Confusion, Abnormal basal ganglia morphology, Abnormal hypothalamus morphology, Abnormal ... |
ORPHA:68 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo... |
ORPHA:1855 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities |
OMIM:600721 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... |
ORPHA:356961 |
Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:610015 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Abnormality of the dien... |
ORPHA:2570 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... |
OMIM:618291 |
Glutaric Acidemia I |
|
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia |
OMIM:231670 |
Sandhoff Disease |
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Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature... |
OMIM:268800 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:314679 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Secondary micro... |
OMIM:618056 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Limb dystonia, Laryngeal dystonia, Small basal ganglia, Impaired vibrato... |
ORPHA:2388 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
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Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... |
OMIM:620075 |
Den Hoed-De Boer-Voisin Syndrome |
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Short attention span, Ataxia, Microcephaly, Tremor, Lateral ventricle dilatation, Secondary micro... |
OMIM:619229 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Microcephaly, Cerebral atrophy, Opisthotonus, Lateral ventricle dilatation, Limb dystonia, Primar... |
OMIM:619847 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly |
ORPHA:3078 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
Paganini-Miozzo Syndrome |
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Lateral ventricle dilatation |
OMIM:301025 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Hypoplasia of the corpus callosum, Depression |
OMIM:620114 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... |
OMIM:613154 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Low frustration ... |
ORPHA:457279 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Hydrocephalus, Lateral ventricle dilatation, Attention deficit hyperactivit... |
OMIM:619575 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Ventriculomegaly, Absent septum pellucidum, Abnormal basal ganglia morphology, Lateral ventricle ... |
ORPHA:397715 |
Chronic Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Craniopharyngioma |
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Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Hydrocephal... |
ORPHA:54595 |
X-Linked Intellectual Disability, Wilson Type |
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Lateral ventricle dilatation, Microcephaly |
ORPHA:85290 |
Halperin-Birk Syndrome |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618651 |
Pseudo-Torch Syndrome 2 |
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Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly |
OMIM:617397 |
Gabriele-De Vries Syndrome |
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Tremor, Cortical dysplasia, Lateral ventricle dilatation, Attention deficit hyperactivity disorde... |
OMIM:617557 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:363444 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Lateral ventricle dilatation, Intention tremor |
OMIM:619995 |
Distal Deletion 10Q |
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Ataxia, Microcephaly, Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Cav... |
ORPHA:96148 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Atten... |
OMIM:618820 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology |
ORPHA:464321 |
Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Microcephaly, Basal ganglia calcification, Cerebral atrophy, Diffuse leuk... |
OMIM:619487 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Microcephal... |
ORPHA:177907 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep... |
ORPHA:521426 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Microcephaly, Irritability, Lateral ventricle dilatation, Hypoplasi... |
OMIM:618367 |
Cog5-Cdg |
|
Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Lateral ventricle dilatati... |
ORPHA:263487 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:619278 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:618914 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response, Hypoplasia of the frontal lobes |
OMIM:300607 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617301 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypoplasia of the frontal lobes |
ORPHA:163985 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Macrogyria, Athetosis, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Polymicrogyria |
OMIM:614866 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum |
ORPHA:261250 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs |
ORPHA:320406 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callo... |
OMIM:151050 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Aicardi Syndrome |
|
Microcephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cy... |
OMIM:304050 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... |
ORPHA:293725 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst |
OMIM:300967 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cerebral cortical atrophy, Dysgyria |
OMIM:620327 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Progressive neurologic deterioration, Microcephaly, Partial agenesis ... |
OMIM:210710 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon, Ataxia |
ORPHA:2720 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:1692 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Microcephaly, Ataxia, Dystonia |
OMIM:620083 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Diffuse cerebral atrophy, T2 hypointense basal ganglia, Diffuse whi... |
ORPHA:79255 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Shyness, Dysplastic corpus callosum, Hypoplasia of the cor... |
ORPHA:466791 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpus callosum, Ventricul... |
OMIM:619479 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Irritability, Lateral ventric... |
OMIM:615873 |
6Q Terminal Deletion Syndrome |
|
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... |
ORPHA:75857 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Microcephaly |
ORPHA:2165 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly |
OMIM:301043 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Khan-Khan-Katsanis Syndrome |
|
Colpocephaly, Ventriculomegaly, Microcephaly |
OMIM:618460 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Social and occupational de... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Abnormal fear-induced behavior, Social and occupational de... |
ORPHA:353277 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypoplasia of the corpus c... |
OMIM:617140 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... |
OMIM:270400 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Microcephaly, Dysplastic corpus callosum, ... |
OMIM:613406 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum |
ORPHA:477993 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white m... |
ORPHA:500150 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Microcephaly, Opisthotonus |
OMIM:614098 |
Williams Syndrome |
|
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Tremor, Microcephaly, Abnormalit... |
ORPHA:904 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... |
OMIM:619869 |
Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Hydrocephalus |
OMIM:612301 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Hypoplasia of the corpus callosum |
ORPHA:369950 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Microcephaly, Pachygyria, Hydrocephalus, Leukoencephalopathy, Lateral ventricle dilatation, Hypop... |
OMIM:607872 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Absent septum pellucidum, Abnormality of the anterior pituitary, Hy... |
ORPHA:438213 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
Norrie Disease |
|
Microcephaly, Irritability, Attention deficit hyperactivity disorder, Abnormality of the dienceph... |
ORPHA:649 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:300896 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Attention deficit hyperactivity disorder, Microcephaly |
OMIM:619522 |