Chudley-Mccullough Syndrome |
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Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... |
OMIM:604213 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebellar atrophy, Dysmetria, Neurodegeneration, Cognitive impairment, Axonal degeneration, Atax... |
OMIM:615157 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Dementia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalop... |
OMIM:615889 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Dementia, Cerebellar atrophy, Decreased number of large periphera... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... |
OMIM:602433 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Ataxia, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Unilateral polymicrogyria, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia of the co... |
OMIM:610031 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Cognitive impa... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
Lissencephaly 3 |
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Pachygyria, Ataxia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Cerebellar vermis ... |
OMIM:611603 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy, Mental deterioration |
OMIM:610951 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Impaired vibration sensat... |
OMIM:610245 |
Polymicrogyria Due To Tubb2B Mutation |
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Perisylvian polymicrogyria, Cerebellar atrophy, Schizencephaly, Hypoplasia of the pons, Cognitive... |
ORPHA:300573 |
Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4A |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
Lissencephaly 4 |
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Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... |
OMIM:614019 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white matter morphology |
OMIM:618138 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Axonal loss, Chorea, Neurodegeneration, Peripheral demyelination, Ataxia, Cer... |
OMIM:617672 |
Microcephaly 5, Primary, Autosomal Recessive |
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Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hypoplasia of the corpus ... |
OMIM:608716 |
Sub-Cortical Nodular Heterotopia |
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Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
Spastic Paraplegia 45, Autosomal Recessive |
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Optic atrophy, Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal degener... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Mucolipidosis Iv |
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Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Progressive neurologic deteriorati... |
OMIM:252650 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Lissencephaly, X-Linked, 1 |
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Pachygyria, Ataxia, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
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Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... |
OMIM:614039 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Dementia, Amyotrophic lateral sclerosis, Frontotemporal dementia, Neurofibrillary tangles, Memory... |
OMIM:619132 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, M... |
OMIM:616811 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Optic atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brainstem, Neuro... |
OMIM:612319 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Global brain atrophy, Diffuse cerebellar atrophy, Neurodegeneration, Axonal deg... |
ORPHA:478029 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Abn... |
ORPHA:255182 |
Alzheimer Disease 9, Susceptibility To |
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Memory impairment, Senile plaques, Hippocampal atrophy, Neurofibrillary tangles, Cerebral cortica... |
OMIM:608907 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Cerebellar atrophy, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Lissencep... |
OMIM:614833 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Dysplastic corpus callosum, Colpocephaly, Optic nerve hypoplasia, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Brain atrophy, Cerebral atrophy... |
ORPHA:85179 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Neurofibrillary tangles, Dementia, Senile plaques |
DECIPHER:48 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
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Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... |
OMIM:608720 |
Ventriculomegaly And Arthrogryposis |
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Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cognitive impairment, Optic nerve ... |
OMIM:615181 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Impaired proprioception, Axonal degeneration, Positive Romberg sign, Impaired vibration sensation... |
ORPHA:88628 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Cognitiv... |
ORPHA:139399 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
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Optic atrophy, Hypoplasia of the pons, Cerebral cortical atrophy, Agenesis of corpus callosum, Mi... |
OMIM:617669 |
Microcephaly 17, Primary, Autosomal Recessive |
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Microlissencephaly, Simplified gyral pattern, Cerebellar hypoplasia, Agenesis of corpus callosum,... |
OMIM:617090 |
Joubert Syndrome 23 |
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Cerebellar dysplasia, Dysplastic corpus callosum |
OMIM:616490 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Optic atrophy, Periventricular heterotopia, Neurodegeneration, Ataxia, Cerebellar hypoplasia, Abn... |
OMIM:618476 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Neurodegeneration, Dementia, Cerebellar atrophy, Cerebral atrophy |
OMIM:300894 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
Alzheimer Disease 4 |
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Dementia, Cognitive impairment, Senile plaques, Cerebral amyloid angiopathy, Neurofibrillary tang... |
OMIM:606889 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Brain atrophy, Small basal ganglia, Per... |
OMIM:616900 |
Lissencephaly Type Iii And Bone Dysplasia |
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Central nervous system degeneration, Microlissencephaly, Agenesis of cerebellar vermis, Neuronal ... |
OMIM:601160 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
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Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... |
OMIM:604320 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Optic atrophy, Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration, Lewy bodies, Dysdiadocho... |
OMIM:610217 |
Pontocerebellar Hypoplasia Type 2 |
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Abnormal cortical gyration, Cerebellar cyst, Dysplastic corpus callosum, Choreoathetosis, Cerebel... |
ORPHA:2524 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Cognitive impairment, Axonal degeneration, Distal sensory impairmen... |
OMIM:609242 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal cerebellum m... |
ORPHA:101070 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
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Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques |
OMIM:605055 |
Mitochondrial Dna Depletion Syndrome 18 |
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Axonal degeneration |
OMIM:618811 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Neurodegeneration, Cerebellar atrophy, Gait ataxia, Microcephaly |
ORPHA:438134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... |
OMIM:613153 |
Craniotelencephalic Dysplasia |
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Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... |
OMIM:218670 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neurofibrillary tangles, Neuronal loss in central nervous system, Memory impairment, Lewy bodies,... |
OMIM:607485 |
Spastic Paraplegia 11, Autosomal Recessive |
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Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... |
OMIM:604360 |
Craniotelencephalic Dysplasia |
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Optic atrophy, Arrhinencephaly, Septo-optic dysplasia, Cerebellar hypoplasia, Lissencephaly, Agen... |
ORPHA:1528 |
Cerebrotendinous Xanthomatosis |
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Progressive psychomotor deterioration, Optic atrophy, Cerebellar atrophy, Optic disc pallor, Opti... |
ORPHA:909 |
Mental Retardation, Autosomal Dominant 48 |
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Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... |
OMIM:617751 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, S... |
ORPHA:255138 |
Gerstmann-Straussler Disease |
|
Dementia, Cerebellar atrophy, Truncal ataxia, Neurofibrillary tangles, Limb ataxia, Gait ataxia, ... |
OMIM:137440 |
Lissencephaly 7 With Cerebellar Hypoplasia |
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Agyria, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:616342 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... |
OMIM:615960 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Mental deterioration, Neurodegeneration, Motor axonal neuropathy, Hypoplasia of the corpus callosum |
OMIM:615643 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Neuronal loss in the cerebral cortex, Pachygyria, Cerebellar hypoplasia, Cere... |
ORPHA:168486 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Cerebellar dysplasia, Facial palsy, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Mic... |
OMIM:613155 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Memory impairment, Ataxia, Neurofibrillary tangles, Cerebral cortica... |
ORPHA:1020 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Cerebellar atrophy, Microlissencephaly, Periventricular ... |
OMIM:616212 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Basal ganglia necrosis, Cerebellar cyst, Cerebellar glio... |
ORPHA:79243 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum, Chiari type I malformation |
ORPHA:459074 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dysmetria, Cerebellar vermis hypoplasia, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait a... |
ORPHA:453521 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Dandy-Walker malformation, Dysplastic corpus callosum, Dilated fourth ventricle, Prima... |
ORPHA:357058 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, De... |
OMIM:256600 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Cerebellar atrophy, Agenesis of corpus callosum, Microlissence... |
ORPHA:89844 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Partial agenesis of the corpus callosum, Diffuse axonal swelling, Neuronal loss in the cerebral c... |
ORPHA:86822 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles, Dementia, Cerebral cortical atrophy, Memory impairment |
OMIM:607822 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Optic atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Ataxia, Cerebral atrophy |
OMIM:615491 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy |
OMIM:614924 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cerebellar cyst, Diffuse white matter abnormalities, Agenesis of corpus callosum, ... |
ORPHA:370959 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Dementia, Lewy bodies, Mental deterioration, Neurofibrillary tangles, Cerebral cortical atrophy |
OMIM:616840 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Cognitive impairment, Inferior v... |
ORPHA:370022 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Dementia |
OMIM:104310 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Fa... |
OMIM:616239 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Dementia |
OMIM:104300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Optic nerve dysplasia, Cerebellar hypoplasia, Gray matter... |
OMIM:615287 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Cerebellar atrophy, Abnormal corpus callosum morphology, Agenesis of c... |
OMIM:616602 |
Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the internal capsule, Pe... |
OMIM:615673 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Hypoplasia of the pons, Optic nerve hypoplasia, Dilation of lateral ve... |
OMIM:618736 |
Microhydranencephaly |
|
Athetosis, Hydranencephaly, Pachygyria, Cerebellar hypoplasia, Agenesis of corpus callosum, Micro... |
OMIM:605013 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Dementia, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Ataxia, Abnormal low... |
OMIM:614298 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Fu... |
OMIM:617542 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dementia, Choreoathetosis, Chorea, Neurodegeneration, Ataxia, Subcortical dementia, Cavitation of... |
OMIM:606159 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Cerebellar atrophy, Dysplastic corpus callosum, Focal po... |
OMIM:619103 |
Gm2 Gangliosidosis, Ab Variant |
|
Punctate periventricular T2 hyperintense foci, Chorea, Cognitive impairment, Neurodegeneration, C... |
ORPHA:309246 |
Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Dementia, Neurodegeneration, Truncal ataxia, Abnormal cer... |
OMIM:300100 |
Niemann-Pick Disease, Type C1 |
|
Dementia, Neuronal loss in central nervous system, Ataxia, Neurofibrillary tangles, Gait ataxia |
OMIM:257220 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Dysplastic corpus callosum, Cerebellar hypoplasia |
OMIM:618810 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Progressive microceph... |
ORPHA:488627 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Dementia, Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:117300 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the pons, Primary microceph... |
ORPHA:500144 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Ataxia, Cerebellar vermis hypoplasia, Gray matter heterotopia, Hypopl... |
ORPHA:314679 |
Crome Syndrome |
|
Cerebellar dysplasia, Renal tubular epithelial necrosis, Microcephaly |
OMIM:218900 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Chorea, Neurodegeneration, Abnormal cerebral white matter morphology, Ataxia, Cerebral edema, Cer... |
OMIM:618321 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Cerebellar dysplasia, Patent ductus arteriosus, Polymicrogyria, Cerebellar hypoplasia, Abnormal p... |
ORPHA:500159 |
Oculocerebrodental Syndrome |
|
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology |
ORPHA:557003 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... |
OMIM:619179 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... |
ORPHA:544488 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Cerebellar atrophy, Microcephaly, Neurodegeneration |
OMIM:615919 |
Kapur-Toriello Syndrome |
|
Pachygyria, Dysplastic corpus callosum, Polymicrogyria, Patent ductus arteriosus |
ORPHA:2328 |
Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in basal ganglia, Frontolimbic dementia, Neuronal loss in central nervous system, G... |
OMIM:609454 |
Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Gray matt... |
OMIM:617822 |
Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Frontolimbic dementia, Neuronal loss in central nervous system, G... |
OMIM:601104 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the corpus callosum, Brain atrophy, Enlarged cerebellum, Microcephaly |
ORPHA:85165 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar cyst, Partial absence of cerebellar vermis, Cerebellar dysplasia, Pachygyria, Cerebell... |
OMIM:613150 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Secondary microcephaly, Dysplastic corpus callosum |
OMIM:619423 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dementia, Neurofibrillary tangles |
OMIM:607625 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Dandy-Walker malformation, Optic atrophy, Cerebellar dysplasia, Optic nerve hypoplasia, Pachygyri... |
OMIM:236670 |
Adult-Onset Dystonia-Parkinsonism |
|
Frontotemporal dementia, Neurofibrillary tangles, Generalized cerebral atrophy/hypoplasia, Fronto... |
ORPHA:199351 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus |
ORPHA:363444 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly |
OMIM:618569 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Pineal cyst, Dysplastic corpus callosum, Thick corpus callosum, Patent ductus arteriosus, Ataxia,... |
OMIM:300967 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Absent septum pellucidum, Polymicrogyria, Gray matter h... |
OMIM:618820 |
Zttk Syndrome |
|
Optic atrophy, Dysplastic corpus callosum, Patent ductus arteriosus, Periventricular leukomalacia... |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Patent ductus arteriosus after birth at term, Chiari malformation, Dysplastic corp... |
ORPHA:500150 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Dysmetria, Bilateral perisylvian polymicrogyria, Cerebellar dy... |
ORPHA:98889 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus, Ataxia, Anterior pituitary hypoplasia, Cere... |
ORPHA:466791 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Dandy-Walker malformation, Optic atrophy, Cerebellar atrophy, Cerebellar dysplasia, Patent ductus... |
ORPHA:487796 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Optic atrophy, Cerebellar cyst, Cerebellar dysplasia, Pachygyria, Polymicrogyria, Aplasia/Hypopla... |
OMIM:253280 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon |
OMIM:601374 |
White-Kernohan Syndrome |
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Dysplastic corpus callosum |
OMIM:619426 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Dysplas... |
OMIM:613406 |
Cog1-Cdg |
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Cerebellar dysplasia, Cerebellar vermis hypoplasia, Progressive microcephaly, Temporal cortical a... |
ORPHA:263508 |