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 |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
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, Lissencephaly, Pachygyria, Agenesis of corpus callosum... |
OMIM:300067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Pachygyria, Gray matter hetero... |
OMIM:611603 |
Microlissencephaly |
|
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Pseudobulbar paralysis, Dysphagia, Abnormal... |
OMIM:606353 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Cerebellar vermis atrophy |
OMIM:618185 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Abnormal peripheral action potential amplitude, Abnormality of the seventh cra... |
ORPHA:90117 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... |
OMIM:611890 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia,... |
ORPHA:352682 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Lissencephaly, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance, Dysphagia |
ORPHA:247604 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... |
ORPHA:95434 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... |
ORPHA:945 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension, Ga... |
OMIM:263570 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Cranial nerve compression, Abnormal ... |
ORPHA:52430 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Lissencephaly 5 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... |
OMIM:615191 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ... |
ORPHA:300573 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Dysphagia |
OMIM:619565 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Axonal loss, Inappropriate behavior, Disinhibition, Gait disturbance, Abnorm... |
OMIM:221770 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Tip-toe gait, Gait disturbance, Attention deficit hyperacti... |
ORPHA:216866 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... |
ORPHA:35689 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:616437 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Inability to walk, Difficulty walking, Dys... |
ORPHA:2590 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... |
OMIM:616212 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Disinhibition, Dysphagia, ... |
ORPHA:275872 |
Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Polymicrogyria, Abnormal cortical gyration |
OMIM:619602 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Short stature, Ataxia, Hea... |
OMIM:205100 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Miscarriage |
ORPHA:1947 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst |
ORPHA:370980 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callos... |
OMIM:616342 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Bradykinesia, Inappropriate behavior, Falls, Shuffling gait, Spinocerebella... |
ORPHA:412066 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Dysphagia |
OMIM:613954 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Dandy-Walker malformation, Subcortical heterotopia, Agyria, Part... |
OMIM:614643 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Simplified gyral pattern, 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 |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, 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 |
|
Abnormal thalamus morphology |
ORPHA:557003 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... |
ORPHA:370959 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Abnormal posturing, Facial palsy, Dysphagia |
OMIM:128100 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Dandy-Walker malform... |
OMIM:164180 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hy... |
ORPHA:2481 |
Periventricular Nodular Heterotopia 1 |
|
Cerebellar hypoplasia, Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Cerebellar hypoplasia, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology |
ORPHA:404440 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Athetosis, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:300857 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia |
OMIM:215470 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing |
ORPHA:157941 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Gait disturbance, Los... |
OMIM:614298 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph... |
OMIM:105400 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Gliosis, Abnormality of neuronal mi... |
OMIM:300957 |
Cach Syndrome |
|
T2 hypointense thalamus |
ORPHA:135 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:613435 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology |
ORPHA:300570 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:614373 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology |
ORPHA:2959 |
Frontotemporal Dementia |
|
Polyphagia, Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia |
OMIM:612069 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2772 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... |
OMIM:615219 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Degeneration of anterior ho... |
ORPHA:276244 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... |
OMIM:600501 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Short stature, Gait ataxia, Gait disturbance, Abnormal upper motor neuron morphology, Spastic gait |
OMIM:601162 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Difficulty wal... |
ORPHA:600 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormal thalamus morphology |
ORPHA:79139 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance |
OMIM:608030 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Bradykinesia, Titubation, Gait disturbance, Dysphagia, Abnormal posturing |
ORPHA:225147 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Dysphagia |
OMIM:617892 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Dysphagia |
OMIM:614808 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:255138 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Lethargy, Abnormal posturing |
OMIM:614857 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Macrogy... |
ORPHA:35107 |
Vici Syndrome |
|
Death in infancy, Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesi... |
ORPHA:1493 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, P... |
OMIM:619895 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Po... |
ORPHA:475 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:157 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Amyotrophic Lateral Sclerosis 8 |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:608627 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria, Cerebellar hypoplasia |
OMIM:617397 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hydrocephalus |
OMIM:187600 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormality of neuronal migration |
ORPHA:2318 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Neu-Laxova Syndrome |
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Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration |
ORPHA:2518 |
Congenital Disorder Of Deglycosylation 2 |
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Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... |
OMIM:619775 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor... |
OMIM:617822 |
3C Syndrome |
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Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... |
ORPHA:7 |
Galloway-Mowat Syndrome |
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Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Meningioma |
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Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
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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Steppage gait, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal auto... |
ORPHA:548 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cerebellar vermis hypoplasia, Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Polym... |
ORPHA:228308 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Hydrocephalu... |
OMIM:615287 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Amyotrophic lateral sclerosis, Ataxia, Dysphagia |
OMIM:615911 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypoplasia, Ag... |
OMIM:618476 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Periventricular heterotopia |
OMIM:618974 |
16P13.11 Microdeletion Syndrome |
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Holoprosencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
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Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Juvenile Amyotrophic Lateral Sclerosis |
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Amyotrophic lateral sclerosis, Ataxia, Head titubation, Inability to walk, Tip-toe gait, Difficul... |
ORPHA:300605 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Colpocephaly, Hydrocephalus, Periventricular heterotopia |
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 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
Joubert Syndrome With Hepatic Defect |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal mig... |
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, Cerebellar vermis hypoplasia, Gray matter heterotopia, Neonatal death, Pa... |
OMIM:620024 |
Man1B1-Cdg |
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Cerebellar hypoplasia, Periventricular heterotopia |
ORPHA:397941 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation |
ORPHA:803 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Unilateral Polymicrogyria |
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Abnormal posturing, Giant somatosensory evoked potentials, Pseudobulbar paralysis |
ORPHA:268943 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Death in infancy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
OMIM:608836 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Cerebellar atrophy, Periventricular heterotopia, Pachygyria, Hypoplasia of the pons, Olivopontoce... |
ORPHA:468631 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume |
ORPHA:168577 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Coffin-Lowry Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Death in early adulthood, Abnormality of neuronal migration |
ORPHA:192 |
Radio-Tartaglia Syndrome |
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Gray matter heterotopia, Agenesis of corpus callosum |
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 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
Aicardi Syndrome |
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Cerebellar vermis hypoplasia, Spina bifida, Partial agenesis of the corpus callosum, Gray matter ... |
OMIM:304050 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... |
ORPHA:75857 |
Van Maldergem Syndrome 1 |
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Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia... |
OMIM:603671 |
Cerebrofacioarticular Syndrome |
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Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Agenesis of co... |
ORPHA:314679 |
Craniopharyngioma |
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Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Abnormality of neuronal migration, Hypothalamic hamartoma |
ORPHA:2754 |
Pagod Syndrome |
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Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration |
ORPHA:991 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Chiari malformation, Holoprose... |
OMIM:618820 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Vici Syndrome |
|
Postnatal growth retardation, Abnormal posturing, Dysphagia |
OMIM:242840 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... |
ORPHA:98889 |
Ane Syndrome |
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Motor neuron atrophy, Short stature, Delayed puberty |
ORPHA:157954 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Gliosis |
ORPHA:26791 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalami... |
OMIM:311200 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... |
OMIM:210710 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:605039 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism, Holoprosencep... |
ORPHA:2162 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... |
OMIM:236680 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology |
ORPHA:314621 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria, Death in childhood |
OMIM:214100 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Periventricular heterotopia |
ORPHA:261250 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Partial agene... |
OMIM:615948 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Gray matte... |
OMIM:243910 |
Neuromuscular Oculoauditory Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Cerebellar vermis hypoplasia, Periventricular heterotopia, Hydrocephalus, Gray ... |
OMIM:612289 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy |
ORPHA:2822 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Death in infancy, Periventricular heterotopia, Partial agenesis of the corpus... |
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 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:352665 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Williams Syndrome |
|
Death in early adulthood, Abnormality of the diencephalon |
ORPHA:904 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Per... |
ORPHA:434179 |
Norrie Disease |
|
Abnormality of the diencephalon |
ORPHA:649 |
Genitopatellar Syndrome |
|
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge... |
ORPHA:261537 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Enlarge... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Periventricular heterotopia, Enlarge... |
ORPHA:2152 |