Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... |
OMIM:604213 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Dysplastic corpus callosum, Global brain atrophy, Microcephaly |
OMIM:618276 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Leukoencephalopathy, Lateral ventricle dilatation, Neurodegeneration, Progres... |
OMIM:615889 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal gan... |
ORPHA:300573 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration, Hypoplasia o... |
OMIM:620210 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Secondary microcephaly, Neurodegeneration, Hypoplasia of th... |
OMIM:617672 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Hypoplasia of the corpus callosum, Atrophy/Degeneration af... |
OMIM:612319 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum |
ORPHA:250972 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Increased circula... |
ORPHA:99965 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Microcephaly |
ORPHA:438134 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agen... |
OMIM:614833 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Brain atrophy, A... |
OMIM:616900 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration, Hypoplasia of the corpus callosum |
OMIM:615643 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Neurodegene... |
OMIM:616239 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col... |
OMIM:619955 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Neurodeg... |
OMIM:214150 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:178320 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Eye of the tiger anomaly of globus pallidus, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy |
OMIM:256600 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities |
OMIM:619737 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Microcephaly, Abnormal basal ganglia morphology, Cerebral atrophy, Fron... |
ORPHA:391428 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Increase... |
ORPHA:540 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Cerebral Visual Impairment |
|
Microcephaly, Central nervous system degeneration, Abnormal cerebral white matter morphology, Abn... |
ORPHA:447788 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Elevated circulating creatine kinase ... |
OMIM:614298 |
Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy, Punctate periventricular T2 hyperintense foci |
ORPHA:309246 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Neurodegeneration, Primary microcephaly, Diffuse cerebellar atrophy, Global ... |
ORPHA:478029 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration, Decreased circulating ferritin concentration, Cavitation of the basal ganglia |
OMIM:606159 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Elevated circulating C-reactive protein conce... |
OMIM:619423 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop... |
OMIM:614924 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
OMIM:619179 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hyperintensity of cerebral white matter on MRI, Cerebral calcification, Agenesis of corpus callos... |
OMIM:618476 |
Adrenoleukodystrophy |
|
Abnormal cerebral white matter morphology, Neurodegeneration |
OMIM:300100 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Failure to thrive |
OMIM:616881 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration, Eye of the tiger anomaly of globus pallidus, Microcephaly |
ORPHA:79244 |
Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Abnormal spinal cord morphology, Diffuse white mat... |
ORPHA:83597 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Adrenomyeloneuropathy |
|
Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Atrophy of the ... |
ORPHA:139399 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Abnormal cerebral white matter morphology, Neurodegeneration, Cerebral edema, Cerebral atrophy |
OMIM:618321 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Lewy bodies |
OMIM:610217 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Axonal degeneration |
ORPHA:88628 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Elevated circulating creatine kinase concentration, Cerebral atrophy, Microcep... |
OMIM:616878 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Developmental And Epileptic Encephalopathy 49 |
|
Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly |
OMIM:617281 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Microcephaly |
OMIM:615919 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Micro... |
ORPHA:314679 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum |
OMIM:618810 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Failure to thrive |
OMIM:617864 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Global brain atrophy, Abnormal periventricular white... |
ORPHA:139396 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Cervical cord compression |
OMIM:309900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Superficial Siderosis |
|
Cerebellar atrophy, Atrophy of the spinal cord, Abnormal spinal cord morphology, Atrophy/Degenera... |
ORPHA:247245 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration, Dysgammaglobulinemia, Microcephaly |
OMIM:251260 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Simplified gyral pattern, Secretory IgA deficiency, Abnormal cerebral... |
ORPHA:500150 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Neurodegeneration |
OMIM:214500 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive |
OMIM:617527 |
Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... |
OMIM:618820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Abnormal basal ganglia morphology, Abnormal cerebral white matte... |
ORPHA:68 |
Zttk Syndrome |
|
Abnormal cerebral white matter morphology, Periventricular leukomalacia, Dysplastic corpus callos... |
OMIM:617140 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Cerebral degeneration, Neurodegeneration, Eye of the tiger anomaly of globu... |
OMIM:234200 |
Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration, Microcephaly |
OMIM:619475 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology, Increased circulating antibody level, Decreased circulating anti... |
ORPHA:289390 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Limb Body Wall Complex |
|
Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, Spina bifida |
ORPHA:2369 |
Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
Tetrasomy 9P |
|
Abnormal spinal cord morphology, Pachygyria, Lissencephaly, Polymicrogyria |
ORPHA:3310 |
Primrose Syndrome |
|
Cerebral calcification, Neurodegeneration, Hypoplasia of the corpus callosum, Elevated circulatin... |
OMIM:259050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |