Chudley-Mccullough Syndrome |
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Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D... |
OMIM:604213 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Decreased number of l... |
OMIM:208920 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Global brain atrophy, Cerebellar atrophy, Hypoplasia of the pons, Motor axonal neuropathy, Dyspla... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Axonal degener... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Cerebellar atrophy, Dysmetria, Decreased number of peripheral myelinated nerve fibers, Distal sen... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Axonal degeneration/regeneration, Distal sensory impairment, Axonal degeneration, Peripheral axon... |
OMIM:614436 |
Polymicrogyria Due To Tubb2B Mutation |
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Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl... |
ORPHA:300573 |
Charcot-Marie-Tooth Disease, Type 4A |
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Hypertrophic nerve changes, Basal lamina onion bulb formation, Distal sensory impairment, Decreas... |
OMIM:214400 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corp... |
OMIM:610031 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Cerebral atrophy, Chorea, Peripheral demyelination, Axonal degeneration, Peripheral hypomyelinati... |
OMIM:604168 |
Lissencephaly 3 |
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Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Hypoplasia of ... |
OMIM:611603 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Mental deterioration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia |
OMIM:610951 |
Charcot-Marie-Tooth Disease, Type 4C |
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Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Distal sensory impairment, ... |
OMIM:601596 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Dysplastic corpus callosum, Short attention span, Mild malformation of cortical development, Abno... |
ORPHA:500166 |
Microcephaly 5, Primary, Autosomal Recessive |
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Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar... |
OMIM:608716 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Sensory axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Motor ax... |
ORPHA:98856 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Leukoencephalopathy, Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration, Periven... |
OMIM:615889 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Focal polymicrogyria, Dilated four... |
OMIM:615771 |
Schizencephaly |
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Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
Lissencephaly 4 |
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Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... |
OMIM:614019 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Degeneration o... |
OMIM:604484 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum |
ORPHA:171703 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Lissencephaly Due To Tuba1A Mutation |
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Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ven... |
ORPHA:171680 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebral cortical atrophy, Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Neurodegen... |
OMIM:617672 |
Spastic Paraplegia 45, Autosomal Recessive |
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Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
Mucolipidosis Iv |
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Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Progressive neurolog... |
OMIM:252650 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuron morphology, Perip... |
OMIM:602433 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Abnormal cerebral white matter morphology, Axonal degeneration |
OMIM:618138 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Mental deterioration, Optic atrophy, Cerebellar atrophy, Neurodegeneration, Abnormal periventricu... |
OMIM:612319 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia |
ORPHA:599373 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Microcephaly, Optic... |
OMIM:616811 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Primary... |
ORPHA:478029 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... |
ORPHA:250972 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang... |
ORPHA:255182 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Impaired vibration sensation in the lower limbs, Positive Romberg sign, Gait ataxia, Axonal degen... |
ORPHA:88628 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
De Sanctis-Cacchione Syndrome |
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Mental deterioration, Optic atrophy, Global brain atrophy, Cerebral atrophy, Basal ganglia calcif... |
OMIM:278800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Memory impairment, Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis, ... |
OMIM:619132 |
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 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr... |
OMIM:614833 |
Pontocerebellar Hypoplasia Type 2 |
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Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Cere... |
ORPHA:2524 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Impaired vibratory sensation, Memory impairment, Secondary microcephaly, Periventricular nodular ... |
OMIM:619737 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Cerebellar vermis hypoplasia, Cerebral atrophy, Small basal ganglia, Abnormal periventricular whi... |
OMIM:616900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Lissencephaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cy... |
OMIM:613153 |
Mitochondrial Dna Depletion Syndrome 18 |
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Axonal degeneration |
OMIM:618811 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604320 |
Microcephaly 10, Primary, Autosomal Recessive |
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Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis of corpus ca... |
OMIM:615095 |
Alzheimer Disease 4 |
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Memory impairment, Neurofibrillary tangles, Cognitive impairment, Dementia, Senile plaques, Cereb... |
OMIM:606889 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Global brain atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Progressive... |
ORPHA:909 |
Adrenomyeloneuropathy |
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Memory impairment, Distal sensory impairment, Axonal degeneration, Peripheral axonal degeneration... |
ORPHA:139399 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Alzheimer Disease 9, Susceptibility To |
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Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Hippocampal atrophy, Senil... |
OMIM:608907 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Mental deterioration, Optic atrophy, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atroph... |
OMIM:610217 |
Craniotelencephalic Dysplasia |
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Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Septo-optic dysp... |
ORPHA:1528 |
Craniotelencephalic Dysplasia |
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Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti... |
OMIM:218670 |
Weiss-Kruszka Syndrome |
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Dysplastic corpus callosum |
ORPHA:502430 |
Autosomal Recessive Cutis Laxa Type 2A |
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Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar malformation, Dilated fourth ven... |
ORPHA:357058 |
Joubert Syndrome 30 |
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Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopia, Superio... |
OMIM:617622 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Dementia, Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Periventricu... |
ORPHA:255138 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Lateral ventricle dilatati... |
OMIM:607485 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... |
ORPHA:101070 |
Kanzaki Disease |
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Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, W... |
OMIM:609242 |
Gerstmann-Straussler Disease |
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Memory impairment, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Dementi... |
OMIM:137440 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Limb ataxia, ... |
OMIM:615157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dy... |
OMIM:615181 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Agenesis of corpus callosum, Dysplastic corpus callosum, Peripheral axonal neuropathy, Colpocepha... |
OMIM:619955 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Confusion, Ataxia, Dementi... |
ORPHA:1020 |
Angioedema, Hereditary, 1 |
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Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Alzheimer Disease 3 |
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Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Optic ataxia, Dementia |
OMIM:607822 |
Poretti-Boltshauser Syndrome |
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Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... |
OMIM:615960 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral pattern |
OMIM:620001 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Mental deterioration, Optic atrophy, Neurodegeneration, Cerebral calcification, Periventricular h... |
OMIM:618476 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Eye of the tiger anomaly of globus pa... |
OMIM:300894 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
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Cerebral cortex with spongiform changes, Senile plaques, Neurofibrillary tangles |
OMIM:605055 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Cerebellar atrophy, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Attention def... |
OMIM:619103 |
Microcephaly 20, Primary, Autosomal Recessive |
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Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:617914 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Cerebellar hypoplasia, Peripheral axonal neuropathy, Dysplastic corpus callosum |
OMIM:618810 |
Even-Plus Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Mental deterioration, Optic atrophy, Cerebellar atrophy, Eye of the tiger anomaly of globus palli... |
OMIM:614298 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl... |
ORPHA:488627 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Cerebral cortical atrophy, Mental deterioration, Neurofibrillary tangles, Lewy bodies, Dementia |
OMIM:616840 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Dysplastic corpus callosum |
OMIM:620135 |
Spongiform Encephalopathy With Neuropsychiatric Features |
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Dementia, Memory impairment, Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:606688 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Dementia, Cerebral amyloid angiopathy, Neurofibrillary tangles, Ataxia |
OMIM:117300 |
Developmental And Epileptic Encephalopathy 49 |
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Cerebellar vermis hypoplasia, Optic atrophy, Basal ganglia calcification, Cerebral calcification,... |
OMIM:617281 |
Cerebrofacioarticular Syndrome |
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Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys... |
ORPHA:314679 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus callosum, Hyperintensity o... |
ORPHA:544488 |
Niemann-Pick Disease, Type C1 |
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Neurofibrillary tangles, Gait ataxia, Neuronal loss in central nervous system, Ataxia, Dementia |
OMIM:257220 |
Alzheimer Disease 2 |
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Dementia, Neurofibrillary tangles |
OMIM:104310 |
Alzheimer Disease, Familial, 1 |
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Dementia, Neurofibrillary tangles |
OMIM:104300 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Microcephaly |
OMIM:618010 |
Microcephaly 26, Primary, Autosomal Dominant |
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Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Pachygyria, Simplifi... |
OMIM:619179 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Oculoskeletodental Syndrome |
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Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Supranuclear Palsy, Progressive, 1 |
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Neuronal loss in basal ganglia, Memory impairment, Neurofibrillary tangles, Cerebral atrophy, Fro... |
OMIM:601104 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o... |
OMIM:618820 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Supranuclear Palsy, Progressive, 2 |
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Neuronal loss in basal ganglia, Memory impairment, Neurofibrillary tangles, Frontolimbic dementia... |
OMIM:609454 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c... |
OMIM:614924 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Dysplastic corpus callosum, Patent ductus arteriosus |
ORPHA:363444 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
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Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618569 |
Niemann-Pick Disease, Type C2 |
|
Dementia, Neurofibrillary tangles, Ataxia |
OMIM:607625 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal cerebral cortex morphology, Global brain atrophy, Chiari malformation, La... |
ORPHA:500150 |
Adult-Onset Dystonia-Parkinsonism |
|
Generalized cerebral atrophy/hypoplasia, Frontotemporal cerebral atrophy, Neurofibrillary tangles... |
ORPHA:199351 |
Zttk Syndrome |
|
Optic atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Cerebellar hypopl... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum, Patent ductus a... |
OMIM:300967 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Cerebral cortical atrophy, Microcephaly, Agenesis of corpus callosum |
OMIM:151050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Chiari type I malformation, Dysplastic ... |
ORPHA:466791 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Witteveen-Kolk Syndrome |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Attention deficit hy... |
OMIM:613406 |