Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer... |
OMIM:604213 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Mot... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... |
OMIM:614436 |
Polymicrogyria Due To Tubb2B Mutation |
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Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Per... |
ORPHA:300573 |
Spinocerebellar Ataxia 23 |
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Cerebellar atrophy, Impaired distal proprioception, Impaired vibration sensation in the lower lim... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
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Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Lissencephaly 3 |
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Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Microcephaly, ... |
OMIM:611603 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Cerebral atrophy, Peripheral... |
OMIM:604168 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4C |
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Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
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 |
Microcephaly 5, Primary, Autosomal Recessive |
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Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Ataxia, Leukoencephalopathy, Lateral ventricle dilatation, Dementia, Neurodeg... |
OMIM:615889 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
Schizencephaly |
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Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Lissencephaly 4 |
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Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se... |
OMIM:620317 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
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Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
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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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microceph... |
ORPHA:171680 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration, Distal sensory impairment |
OMIM:616155 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Ataxia, Peripheral demyelination, Chorea, Hyperintensity of cerebral white ma... |
OMIM:617672 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
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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Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Microcephaly, ... |
OMIM:252650 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
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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Cerebellar atrophy, Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Hypo... |
OMIM:612319 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia |
ORPHA:599373 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
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Microcephaly, Abnormal cerebellum morphology, Periventricular cysts, Cerebral atrophy, Abnormal b... |
ORPHA:255182 |
Polymicrogyria With Optic Nerve Hypoplasia |
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Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... |
ORPHA:88628 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Cerebellar atrophy, Optic neuropathy, Microcephaly, Axonal degeneration, Optic atrophy, Global br... |
OMIM:616811 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Axonal degeneration, Neurodegeneration, Primary microcephaly, Diffuse cerebella... |
ORPHA:478029 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha... |
OMIM:614833 |
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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Ataxia, Microcephaly, Basal ganglia calcification, Axonal degeneration, Optic atrophy, Cerebral a... |
OMIM:278800 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis, Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory... |
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 |
Pontocerebellar Hypoplasia Type 2 |
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Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia ... |
ORPHA:2524 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Impaired vibratory sensation, Optic disc pallor, Hypoesthesia, Dysplastic corpus callosum, Second... |
OMIM:619737 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon... |
OMIM:613153 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
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Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... |
OMIM:616900 |
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, Axonal degeneration, Degeneration of anterior horn cells |
OMIM:604320 |
Microcephaly 10, Primary, Autosomal Recessive |
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Cerebellar atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atro... |
OMIM:615095 |
Alzheimer Disease 4 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Senile plaq... |
OMIM:606889 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
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Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Somatic sensory dysfunction, Short a... |
ORPHA:909 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Short attention span, Neurofibrillary tangles, Chorea, Optic atrophy, Dysmetr... |
OMIM:610217 |
Alzheimer Disease 9, Susceptibility To |
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Neurofibrillary tangles, Hippocampal atrophy, Senile plaques, Memory impairment, Cerebral cortica... |
OMIM:608907 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Microcephaly, Optic atrophy, Lissencephaly, Cerebellar hypoplasia, Agenesi... |
ORPHA:1528 |
Craniotelencephalic Dysplasia |
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Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly, Cerebellar hypoplasia, Agenesis ... |
OMIM:218670 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Ataxia, Periventricular heterotopia, Periventricular cysts, Cerebellar hypoplasia, Hypoplasia of ... |
ORPHA:255138 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Neurofibrillary tangles, Dementia, Senile plaques |
DECIPHER:48 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Lewy bodies, Neurofibrillary tangles, Frontotemporal dementia, Lateral ventricle dilatation, Prog... |
OMIM:607485 |
Autosomal Recessive Cutis Laxa Type 2A |
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Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic... |
ORPHA:357058 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Neurofibrillary tangles, Frontotemporal dementia, Tempora... |
ORPHA:100070 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno... |
ORPHA:101070 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Dementia, Truncal ataxia, ... |
OMIM:137440 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, ... |
OMIM:615157 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment, W... |
OMIM:609242 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Leukoencephalopathy, Cerebe... |
OMIM:615181 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of... |
OMIM:619955 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Ataxia, Confusion, Neurofibrillary tangles, Dementia, Semantic dementia, Memory impairment, Cereb... |
ORPHA:1020 |
Angioedema, Hereditary, 1 |
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Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Poretti-Boltshauser Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
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Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Simplified gyral pattern, Microcephaly |
OMIM:620001 |
Alzheimer Disease 3 |
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Neurofibrillary tangles, Dementia, Memory impairment, Cerebral cortical atrophy, Optic ataxia |
OMIM:607822 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Cerebral calcification, Ataxia, Periventricular heterotopia, Optic atrophy, Hyperintensity of cer... |
OMIM:618476 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C... |
ORPHA:370022 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cerebellar hypoplasia, Hypoplasia of th... |
OMIM:613155 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Cerebellar atrophy, Cerebral atrophy, Dementia, Neurodegeneration, Eye of the tiger anomaly of gl... |
OMIM:300894 |
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 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, L... |
OMIM:617751 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Dysplastic corpus callosum, Peripheral axonal neuropathy, Cerebellar hypoplasia |
OMIM:618810 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Cerebellar atrophy, Abnormal lower motor neuron morphology, Ataxia, Optic atrophy, Dementia, Neur... |
OMIM:614298 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles, Dementia, Mental deterioration, Lewy bodies, Cerebral cortical atrophy |
OMIM:616840 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Memory impairment, Dementia, Cerebral cortex with spongiform changes |
OMIM:606688 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Dementia, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Gray matter heter... |
ORPHA:314679 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, B... |
OMIM:617281 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Dementia, Neuronal loss in central nervous system |
OMIM:257220 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... |
ORPHA:544488 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Dementia |
OMIM:104300 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Dementia |
OMIM:104310 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... |
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 |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Crome Syndrome |
|
Microcephaly, Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Supranuclear Palsy, Progressive, 1 |
|
Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degene... |
OMIM:601104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Microcephaly, Partial absence of cerebellar vermis, Cerebellar hypoplasia, ... |
OMIM:613150 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chia... |
OMIM:618820 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Optic atrophy, Cerebellar hy... |
OMIM:236670 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly |
OMIM:619423 |
Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in basal ganglia, Neurofibrillary tangles, Granulovacuolar degeneration, Memory imp... |
OMIM:609454 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus |
ORPHA:363444 |
Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles, Dementia, Ataxia |
OMIM:607625 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Periventricular leukomalacia, Optic nerve hypoplasia, Dysplastic corpus callosum, Patent ductus a... |
ORPHA:500150 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Frontotemporal dementia, Frontotemporal cerebral atrophy, Generalized ce... |
ORPHA:199351 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Patent ductus arteriosus, Optic atrophy, Abnormal cerebral white matt... |
OMIM:617140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Dysplastic corpus callosum, Patent ductus arteriosus, Thick corpus callosum, Cerebellar h... |
OMIM:300967 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:151050 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Dysplastic corpus callosum, Patent ductus arteriosus, Chiari type I malformation, Cerebel... |
ORPHA:466791 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum, Attention deficit hyperactivity disorder |
OMIM:619426 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Bilateral polymicrogyria, Hypoplasi... |
OMIM:613406 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |