Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Cerebellar dysplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Gra... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:615411 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Abnormal motor neuron morphology, Decreased motor nerve conduction ve... |
DECIPHER:29 |
Lissencephaly 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:607432 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus ... |
OMIM:300067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Lissencephaly 3 |
|
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... |
OMIM:611603 |
Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Cer... |
ORPHA:1083 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... |
ORPHA:101029 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Loss of ambulation, Abnormal upper motor neuron morphology, Dysphagia, De... |
OMIM:606353 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia |
OMIM:618185 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Inability to walk, Abnormal peripheral action potential... |
ORPHA:90117 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Inability to walk, Facial diplegia, Paucity of anterior h... |
OMIM:611890 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria,... |
ORPHA:352682 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Band Heterotopia |
|
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Gray matter heterotopia, Agenesis of... |
OMIM:600348 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Lissencephaly, Periventricular ribbonlike heterotopia, Cerebellar hypoplasia |
OMIM:618677 |
Juvenile Primary Lateral Sclerosis |
|
Dysphagia, Gait imbalance, Abnormal upper motor neuron morphology, Spastic gait |
ORPHA:247604 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Difficulty walking, Diffuse axonal swelling, Atrophy of the spinal cord, Abnormal lower motor neu... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Limb ataxia, Unsteady gait, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology... |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Polyglucosan Body Neuropathy, Adult Form |
|
Gait disturbance, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostat... |
OMIM:263570 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality... |
ORPHA:945 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Motor axonal neuropathy, Sensory axonal neuropathy, Short stature, Amyotrophic lateral sclerosis,... |
ORPHA:52430 |
Lissencephaly 5 |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Subcortic... |
OMIM:615191 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... |
OMIM:604317 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Hypoplasia of the pons, Lateral ventricle dilatation, Gray matter heterotopia, Pa... |
ORPHA:300573 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Subependymal Nodular Heterotopia |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Occipital... |
ORPHA:101030 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Difficulty walking |
OMIM:611067 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Dystonia 31 |
|
Dysphagia, Abnormal posturing, Difficulty walking |
OMIM:619565 |
Hemimegalencephaly |
|
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Gliosis, Pachygyria |
ORPHA:99802 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Gait disturbance, Attention deficit hyperactivity disorder, Optic disc pallor,... |
ORPHA:216866 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Disinhibition, Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Disinhibition, Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616437 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Simplified gyral pattern, Cerebe... |
OMIM:616171 |
Primary Lateral Sclerosis |
|
Motor axonal neuropathy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Cerv... |
ORPHA:35689 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Polymicrogyria, Neonatal death |
OMIM:619602 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Difficulty walking, Abnormal lower motor neuron morphology, Dysphagia, Waddlin... |
ORPHA:2590 |
Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... |
OMIM:616212 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... |
OMIM:606070 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Disinhibition, Abnormal lower motor neuron morphology, Abnormal up... |
ORPHA:275872 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Disinhibition, Abnormal upper motor neuron morphology, Peripheral demyelination... |
OMIM:221770 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology |
ORPHA:467166 |
Leber Congenital Amaurosis |
|
Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration |
ORPHA:65 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Ataxia, Difficulty walking, Abnormal lower motor neuron morphology, Abnormal upper motor neuron m... |
OMIM:205100 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Miscarriage, T2 hypointense thalamus |
ORPHA:1947 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Cerebellar atrophy, Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Agenesis of corpu... |
OMIM:616342 |
Panhypophysitis |
|
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... |
ORPHA:95513 |
Poretti-Boltshauser Syndrome |
|
Cerebellar dysplasia, Cerebellar cyst, Gray matter heterotopia, Dilated fourth ventricle, Cerebel... |
OMIM:615960 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Dysphagia, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking |
OMIM:613954 |
Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... |
ORPHA:95512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in childhood, Type II lissencephaly, Polymicrogyria, Partial agenesis of the... |
OMIM:614643 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Periventricular he... |
OMIM:618273 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Gray matter heterotopia, Chia... |
OMIM:207950 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
Oculoskeletodental Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:557003 |
Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Olivopontocerebellar hypoplasia, Hypoplasia... |
ORPHA:370959 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Microlissencephaly, Agenesis of corpus callosum, Cerebellar atrophy, Abn... |
ORPHA:89844 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Oculocerebrocutaneous Syndrome |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Orbital encephalocele, Gray matter hetero... |
OMIM:164180 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterot... |
OMIM:617622 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Dysphagia, Facial palsy, Inability to walk, Abnormal posturing |
OMIM:128100 |
Neurocutaneous Melanocytosis |
|
Meningocele, Death in infancy, Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Dandy-W... |
ORPHA:2481 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Subcortical heterotopia |
OMIM:614483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Cerebellar hypoplasia, Pachygyria |
OMIM:608840 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Cerebellar hypoplasia, Gray matter heterotopia |
OMIM:300049 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Dysphagia, Abnormal lower motor neuron morphology |
OMIM:607225 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dysphagia, Axonal loss, Amyotrophic lateral sclerosis, Athetosis |
OMIM:300857 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology |
ORPHA:404440 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Falls, Abnormal neuron morphology, Short stepped shuffling gait, Spinocereb... |
ORPHA:412066 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology |
ORPHA:88619 |
Huntington Disease-Like 1 |
|
Gait disturbance, Restlessness, Bradykinesia, Gait ataxia, Abnormal posturing, Dysmetria |
ORPHA:157941 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron morphology, Loss o... |
OMIM:614298 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Abnormal upper motor neuron morphology, Ataxia |
OMIM:215470 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Abnormality of neuronal mi... |
ORPHA:899 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:435638 |
Glutathionuria |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:231950 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... |
ORPHA:231720 |
Amyotrophic Lateral Sclerosis 1 |
|
Dysphagia, Pseudobulbar paralysis, Degeneration of anterior horn cells, Amyotrophic lateral scler... |
OMIM:105400 |
Cach Syndrome |
|
T2 hypointense thalamus |
ORPHA:135 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Gliosis, Cerebellar vermis hypoplasia, Abnormality of neuronal mi... |
OMIM:300957 |
Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology |
ORPHA:300570 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:2959 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology |
ORPHA:70474 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2772 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, Spinocerebellar tract dege... |
ORPHA:276244 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Holoprosencephaly, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:93274 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Hydrocephalus, Communicating hydrocephalus, Simplified gyral pattern, Gray matter h... |
OMIM:615219 |
Neuroferritinopathy |
|
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus |
ORPHA:157846 |
Abcd Syndrome |
|
Neonatal death, Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal agan... |
OMIM:600501 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait disturbance, Abnormal upper motor neuron morphology, Short stature, Gait ataxia, Spastic gait |
OMIM:601162 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Unsteady gait, Difficulty walking, Decreased nerve conduction velocity, Amyotrophic lateral scler... |
ORPHA:600 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology |
ORPHA:79139 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Disinhibition, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:612069 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait disturbance, Titubation, Dysphagia, Bradykinesia, Gait ataxia, Abnormal posturing |
ORPHA:225147 |
Frontotemporal Dementia |
|
Polyphagia, Amyotrophic lateral sclerosis, Disinhibition |
OMIM:600274 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Dysphagia, Amyotrophic lateral sclerosis |
OMIM:617892 |
Amyotrophic Lateral Sclerosis 18 |
|
Dysphagia, Amyotrophic lateral sclerosis |
OMIM:614808 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells |
ORPHA:1145 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum, Pachygyria, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Abnormal posturing, Growth delay |
OMIM:614857 |
Vici Syndrome |
|
Hypoplasia of the pons, Death in infancy, Gray matter heterotopia, Cerebellar hypoplasia, Agenesi... |
ORPHA:1493 |
Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Pachygyria, Lissencephaly,... |
ORPHA:35107 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Exencephaly, Pachygyria, L... |
ORPHA:2211 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Holoprosencephaly 14 |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Aqueductal stenosis, Alobar holoprosencep... |
OMIM:619895 |
Joubert Syndrome |
|
Encephalocele, Polymicrogyria, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuron... |
ORPHA:475 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypopla... |
ORPHA:157 |
Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Thalamic edema, Atrophic pituitary gland |
ORPHA:2177 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death, Hydrocephalus |
OMIM:187600 |
Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia |
OMIM:617397 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Spina bifida, Abnormality of neuronal mig... |
ORPHA:2671 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:2318 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia |
OMIM:619694 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2518 |
Congenital Disorder Of Deglycosylation 2 |
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Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic ha... |
OMIM:619775 |
Alkuraya-Kucinskas Syndrome |
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Cerebellar dysplasia, Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Lissencephal... |
OMIM:617822 |
3C Syndrome |
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Hydrocephalus, Death in infancy, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation,... |
ORPHA:7 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Galloway-Mowat Syndrome |
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Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Meningioma |
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Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Neoplasm of ... |
ORPHA:2495 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology |
ORPHA:93941 |
Leprosy |
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Abnormality of the seventh cranial nerve, Steppage gait, Abnormal autonomic nervous system physio... |
ORPHA:548 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Type II lissencephaly, Agenesis of cerebellar vermis, Hydrocephalus, Communicating hydrocephalus,... |
OMIM:615287 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Dysphagia, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Polymicrogyria, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Cerebellar vermis hypopla... |
ORPHA:228308 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Agenesis of corpus callosum, Da... |
OMIM:618476 |
Amyotrophic Lateral Sclerosis 8 |
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Dysphagia, Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:608627 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Periventricular heterotopia |
OMIM:618974 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Gray matter heterotopia, Polymicrogyria, Neonatal death |
OMIM:614887 |
Juvenile Amyotrophic Lateral Sclerosis |
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Inability to walk, Ataxia, Difficulty walking, Tip-toe gait, Amyotrophic lateral sclerosis, Head ... |
ORPHA:300605 |
16P13.11 Microdeletion Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum |
ORPHA:261236 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Periventricular heterotopia, Colpocephaly, Hydrocephalus |
OMIM:619833 |
Amyotrophic Lateral Sclerosis 20 |
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Amyotrophic lateral sclerosis |
OMIM:615426 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Fragile X Syndrome |
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Periventricular heterotopia |
OMIM:300624 |
Joubert Syndrome With Hepatic Defect |
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Hydrocephalus, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis h... |
ORPHA:1454 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Frontal polymicrogyria, Gray matter heterotopia, Neonatal death, Pachygyria, Cerebellar vermis hy... |
OMIM:620024 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
Man1B1-Cdg |
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Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation |
ORPHA:803 |
Unilateral Polymicrogyria |
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Pseudobulbar paralysis, Abnormal posturing, Giant somatosensory evoked potentials |
ORPHA:268943 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Polymicrogyria, Death in infancy, Abnormality of neuronal migration, Agenesis of corpus callosum |
OMIM:608836 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Polymicrogyria, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Lobar holoprosencephaly,... |
ORPHA:468631 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume |
ORPHA:168577 |
Craniopharyngioma |
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Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
Coffin-Lowry Syndrome |
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Death in early adulthood, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum |
ORPHA:192 |
Radio-Tartaglia Syndrome |
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Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619312 |
Holoprosencephaly 7 |
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Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Aicardi Syndrome |
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Polymicrogyria, Partial agenesis of the corpus callosum, Spina bifida, Lateral ventricle dilatati... |
OMIM:304050 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Agenesis of corpus callosum, Interhypothalamic adhesion, Periventricular heterotopia |
OMIM:618929 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon |
ORPHA:2720 |
6Q Terminal Deletion Syndrome |
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Colpocephaly, Polymicrogyria, Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neur... |
ORPHA:75857 |
Van Maldergem Syndrome 1 |
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Periventricular nodular heterotopia, Simplified gyral pattern, Gray matter heterotopia, Pachygyri... |
OMIM:601390 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Periventricular nodular heterotopia, Retrocerebellar cyst, Gray matter heterotopia... |
OMIM:603671 |
Cerebrofacioarticular Syndrome |
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Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Gray matte... |
ORPHA:314679 |
Orofaciodigital Syndrome Type 6 |
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Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
ORPHA:2754 |
Pagod Syndrome |
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Encephalocele, Spina bifida, Meningocele, Death in infancy, Abnormality of neuronal migration |
ORPHA:991 |
9Q21.13 Microdeletion Syndrome |
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Gray matter heterotopia |
ORPHA:531151 |
Vici Syndrome |
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Dysphagia, Postnatal growth retardation, Abnormal posturing |
OMIM:242840 |
Genitourinary And/Or Brain Malformation Syndrome |
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Colpocephaly, Polymicrogyria, Holoprosencephaly, Dysplastic corpus callosum, Gray matter heteroto... |
OMIM:618820 |
Ane Syndrome |
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Motor neuron atrophy, Delayed puberty, Short stature |
ORPHA:157954 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gliosis, Gray matter heterotopia |
ORPHA:26791 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Death in childhood, Abnormal cortical gyration, Polymicrogyria, Colpocephaly, Agenesis of cerebel... |
OMIM:210710 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Cerebellar cyst, Gray matter heterot... |
OMIM:311200 |
Bohring-Opitz Syndrome |
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Agenesis of corpus callosum, Dandy-Walker malformation, Gray matter heterotopia |
OMIM:605039 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar dysplasia, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex ... |
ORPHA:98889 |
Alg11-Cdg |
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Gray matter heterotopia |
ORPHA:280071 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Orofaciodigital Syndrome Xvi |
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Gray matter heterotopia |
OMIM:617563 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Anencephaly, Stillbirth, Gray matter heterotopia, Agenesis of corpus ... |
OMIM:236680 |
Holoprosencephaly |
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Encephalocele, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cer... |
ORPHA:2162 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Sandifer Syndrome |
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Abnormal posturing |
ORPHA:71272 |
Miller-Dieker Lissencephaly Syndrome |
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Lissencephaly, Gray matter heterotopia, Pachygyria, Agyria |
OMIM:247200 |
Opitz-Kaveggia Syndrome |
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Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Duplication Of The Pituitary Gland |
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Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia |
OMIM:618870 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Death in childhood, Polymicrogyria, Gray matter heterotopia |
OMIM:214100 |
Van Maldergem Syndrome 2 |
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Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia |
OMIM:615546 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Arima Syndrome |
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Agenesis of cerebellar vermis, Gray matter heterotopia, Occipital meningocele, Dilated fourth ven... |
OMIM:243910 |
Orofaciodigital Syndrome Xiv |
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Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral pattern, Occipital ence... |
OMIM:615948 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:276300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis |
OMIM:619132 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:619133 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Fontaine Progeroid Syndrome |
|
Hydrocephalus, Death in infancy, Neonatal death, Gray matter heterotopia, Cerebellar hypoplasia, ... |
OMIM:612289 |
Periventricular Nodular Heterotopia 9 |
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Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:618918 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Hypothalamic atrophy |
ORPHA:2822 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormality of neuronal migration |
ORPHA:464311 |
Idiopathic Camptocormia |
|
Syringomyelia, Myelitis, Amyotrophic lateral sclerosis |
ORPHA:1320 |
Smith-Lemli-Opitz Syndrome |
|
Colpocephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Holoprosencephaly, Death in... |
OMIM:270400 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology |
ORPHA:68 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Agenesis of corpus callosum, Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Agenesis of corpus callosum, Gray matter heterotopia |
ORPHA:352665 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Williams Syndrome |
|
Death in early adulthood, Abnormality of the diencephalon |
ORPHA:904 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia, Dandy-Walker malformation, Partial agenesis of the corpus callosum, ... |
ORPHA:434179 |
Norrie Disease |
|
Abnormality of the diencephalon |
ORPHA:649 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Colpocephaly, Pachygyria, Periventricular heterotopia |
OMIM:606170 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Lateral ventricle dilatation,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Lateral ventricle dilatation,... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Polymicrogyria, Agenesis of cerebellar vermis, Enlarged cerebellum, Agenesis of corpus callosum, ... |
ORPHA:2152 |