Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Microcephaly 7, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:612703 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymi... |
OMIM:604213 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... |
OMIM:600348 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Abnormal neuron morphology, Simplified gyral pattern, Abnormal cerebellum morphology |
ORPHA:329228 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus ... |
OMIM:300067 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Pac... |
OMIM:611603 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy |
OMIM:607641 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simplified gyral ... |
ORPHA:1083 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... |
ORPHA:101029 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Dysphagia, Abnormal peripheral action potential amplitu... |
ORPHA:90117 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Inability to walk, Paucity of anterior horn motor neurons, Neonatal death, Perip... |
OMIM:611890 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... |
ORPHA:352682 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Spastic gait, Dysphagia, Abnormal upper motor neuron morphology |
ORPHA:247604 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Cerebellar hypoplasia |
OMIM:618572 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Periventricular ribbonlike heterotopia, Lissencephaly, Hypoplasia of the pons, Cerebellar hypoplasia |
OMIM:618677 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... |
ORPHA:95434 |
Polyglucosan Body Neuropathy, Adult Form |
|
Gait disturbance, Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axo... |
OMIM:263570 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... |
ORPHA:945 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Short stature, Abnormal motor neuron mo... |
ORPHA:52430 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Cerebellar vermis hypoplasia, Subc... |
OMIM:615191 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology |
OMIM:613724 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Death in childhood, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cer... |
OMIM:613153 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Nasofrontal encephalocele, Polymicrogyria, Partial age... |
ORPHA:101030 |
Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Spastic gait, Abnormal upper motor neuron morphology |
OMIM:606353 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Polymicrogyria, Abnormal neuron morphology, Pachygyria |
ORPHA:99802 |
Dystonia 31 |
|
Dysphagia, Difficulty walking, Abnormal posturing |
OMIM:619565 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Hypoplasia of the pons, Polymicrogyria, Late... |
ORPHA:300573 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria |
OMIM:619602 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait, Dys... |
ORPHA:2590 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower motor neuron m... |
OMIM:606070 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Tip-toe gait, Gait disturbance, Optic disc pallor, Dysphagia, Abnormal posturing |
ORPHA:216866 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Polymicrogyria, Partial agenesis of the corpus callosum,... |
OMIM:616212 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:65 |
Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal upper motor neuron morphology,... |
ORPHA:35689 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:616437 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Cerebellar atrophy |
ORPHA:370980 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Miscarriage, T2 hypointense thalamus |
ORPHA:1947 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Cerebellar hypoplasia, Agyria, Lissencephaly, Death in infancy, Agenesis of corpu... |
OMIM:616342 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Short stature, Head titubation, Abnormal low... |
OMIM:205100 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:95513 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Progressive cerebellar ataxia, Dysphagia, Abnormal upper ... |
ORPHA:275872 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cerebellar hypoplasia, Type II lissencephaly... |
OMIM:615287 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss |
OMIM:221770 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Death in infancy |
OMIM:619046 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Dysphagia |
OMIM:613954 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Panhypopitui... |
ORPHA:95512 |
Oculocerebrodental Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:557003 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Chiari malformation, Spina bifida, Agen... |
OMIM:207950 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:2512 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Gray matter heterotopia, Abnormal cerebellum morphology, Occipital encephalocele, ... |
ORPHA:370959 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malform... |
OMIM:164180 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern, Co... |
OMIM:615219 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Gray matter heterotopia, Cerebellar atr... |
OMIM:617622 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia |
OMIM:608840 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar hypoplasia |
OMIM:300049 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Dysphagia, Facial palsy, Inability to walk, Abnormal posturing |
OMIM:128100 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormality of thalamus morphology |
ORPHA:404440 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Death in infancy, Meningocele, Abnorma... |
ORPHA:2481 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Axonal loss |
OMIM:300857 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormality of thalamus morphology |
ORPHA:88619 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Gray matter heterotopia, Encephalocele, Cerebellar hypoplasia, Polymicrogyria, Typ... |
OMIM:614643 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormal cortical gy... |
ORPHA:899 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:435638 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Gait ataxia, Abnormal upper motor neuron morphology |
OMIM:215470 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death |
OMIM:257100 |
Leptin Receptor Deficiency |
|
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... |
OMIM:614963 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... |
ORPHA:231720 |
Amyotrophic Lateral Sclerosis 1 |
|
Dysphagia, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paral... |
OMIM:105400 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Abnormal cerebellum morphology, Gliosis, Cerebellar vermis hyp... |
OMIM:300957 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele, Agenesis of corpus c... |
OMIM:603671 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2772 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology |
ORPHA:2959 |
Leigh Syndrome With Cardiomyopathy |
|
Abnormality of thalamus morphology |
ORPHA:70474 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormality of thalamus morphology |
ORPHA:300570 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:613435 |
Huntington Disease-Like 1 |
|
Bradykinesia, Dysmetria, Gait disturbance, Gait ataxia, Abnormal posturing |
ORPHA:157941 |
Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Encephalocele |
ORPHA:93274 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Neonatal death, Aganglionic megacolon, Abnormal auditory evoked p... |
OMIM:600501 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Difficulty walking, Unsteady ... |
ORPHA:600 |
Neuroferritinopathy |
|
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus |
ORPHA:157846 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Loss of ambulation, Ataxia, Optic atrophy, Abnormal lower motor neuron morphology, Gait disturban... |
OMIM:614298 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Machado-Joseph Disease Type 3 |
|
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Peripheral axonal neuropathy,... |
ORPHA:276244 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Abnormality of thalamus morphology |
ORPHA:79139 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis |
OMIM:608030 |
Cach Syndrome |
|
T2 hypointense thalamus |
ORPHA:135 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:618476 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia, Pachygyria |
ORPHA:255138 |
Vici Syndrome |
|
Gray matter heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia, Death in infancy, Agenesi... |
ORPHA:1493 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:2211 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait disturbance, Abnormal upper motor neuron morphology, Short stature |
OMIM:601162 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Bradykinesia, Gait disturbance, Titubation, Gait ataxia, Dysphagia, Abnormal posturing |
ORPHA:225147 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Amyotrophic Lateral Sclerosis 18 |
|
Dysphagia, Amyotrophic lateral sclerosis |
OMIM:614808 |
Desmosterolosis |
|
Hydrocephalus, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria, Lissencep... |
ORPHA:35107 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Lethargy, Abnormal posturing |
OMIM:614857 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Joubert Syndrome |
|
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, E... |
ORPHA:475 |
Holoprosencephaly 14 |
|
Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Alobar holoprosencephaly, Aq... |
OMIM:619895 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, P... |
ORPHA:157 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Leigh Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:506 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Gray matter heterotopia |
ORPHA:2655 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Cerebellar vermis atrophy, Abnormal neuron morphology |
ORPHA:163681 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Gray matter heterotopia |
OMIM:219730 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Polyphagia |
OMIM:600274 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Dysphagia, Amyotrophic lateral sclerosis |
OMIM:612069 |
Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Gray matter heterotopia, Neonatal death |
OMIM:187600 |
Neu-Laxova Syndrome |
|
Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Abnormal cortical gyration, Polymic... |
ORPHA:2671 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele |
ORPHA:2318 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum |
ORPHA:2518 |
Alkuraya-Kucinskas Syndrome |
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Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Lissencephaly, Cerebellar dysplasia |
OMIM:617822 |
3C Syndrome |
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Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Death in infancy, Abnormality of neuronal mi... |
ORPHA:7 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Gray matter heterotopia |
OMIM:619694 |
Congenital Disorder Of Deglycosylation 2 |
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Gray matter heterotopia, Hypothalamic hamartoma, Polymicrogyria, Partial agenesis of the corpus c... |
OMIM:619775 |
Meningioma |
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Enlarged pituitary gland, Reduced circulating prolactin concentration, Hypothalamic hypothyroidis... |
ORPHA:2495 |
Neonatal Adrenoleukodystrophy |
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Abnormality of neuronal migration |
ORPHA:44 |
Galloway-Mowat Syndrome |
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Abnormality of neuronal migration, Pachygyria, Aqueductal stenosis |
ORPHA:2065 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Abnormality of neuronal migration, P... |
ORPHA:228308 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Leprosy |
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Enlarged peripheral nerve, Steppage gait, Abnormal autonomic nervous system physiology, Abnormali... |
ORPHA:548 |
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 |
Tay-Sachs Disease |
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Abnormal thalamic MRI signal intensity |
ORPHA:845 |
16P13.11 Microdeletion Syndrome |
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Abnormality of neuronal migration, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:261236 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
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Periventricular heterotopia |
OMIM:618974 |
Amyotrophic Lateral Sclerosis 8 |
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Dysphagia, Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:608627 |
Microgastria-Limb Reduction Defects Association |
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Fusion of the left and right thalami |
OMIM:156810 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
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Dysphagia, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
Holoprosencephaly 7 |
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Panhypopituitarism, Fusion of the left and right thalami |
OMIM:610828 |
Juvenile Amyotrophic Lateral Sclerosis |
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Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Tip-toe gait, Head titubation, Difficul... |
ORPHA:300605 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Periventricular heterotopia, Hydrocephalus, Colpocephaly |
OMIM:619833 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:617397 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Amyotrophic Lateral Sclerosis 20 |
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Amyotrophic lateral sclerosis |
OMIM:615426 |
Fragile X Syndrome |
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Periventricular heterotopia |
OMIM:300624 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Gray matter heterotopia, Neonatal death, Frontal polymicrogyria, Cerebellar vermis hypoplasia, Pa... |
OMIM:620024 |
Man1B1-Cdg |
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Periventricular heterotopia, Cerebellar hypoplasia |
ORPHA:397941 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Joubert Syndrome With Hepatic Defect |
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Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis hypoplasia, Abnormality of... |
ORPHA:1454 |
Thanatophoric Dysplasia Type 1 |
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Hydrocephalus, Gray matter heterotopia |
ORPHA:1860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Abnormality of neuronal migration, Agenesis of corpus callosum, Death in infancy, Polymicrogyria |
OMIM:608836 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Periventricular heterotopia, Hypoplasia of the pons, Cerebellar hypoplasia, Polymicrogyria, Lisse... |
ORPHA:468631 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Decreased thalamic volume |
ORPHA:168577 |
Unilateral Polymicrogyria |
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Giant somatosensory evoked potentials, Pseudobulbar paralysis, Abnormal posturing |
ORPHA:268943 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Craniopharyngioma |
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Enlarged pituitary gland, Abnormal hypothalamus morphology, Increased circulating prolactin conce... |
ORPHA:54595 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Coffin-Lowry Syndrome |
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Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Death in early adulthood |
ORPHA:192 |
Radio-Tartaglia Syndrome |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Periventricular heterotopia, Interhypothalamic Adhesion, Agenesis of corpus callosum |
OMIM:618929 |
Van Maldergem Syndrome 1 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Simpl... |
OMIM:601390 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon |
ORPHA:2720 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Abno... |
ORPHA:75857 |
Aicardi Syndrome |
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Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Cerebellar verm... |
OMIM:304050 |
Cerebrofacioarticular Syndrome |
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Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Gray matter heterotopia, Agenesis of co... |
ORPHA:314679 |
Pagod Syndrome |
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Death in infancy, Meningocele, Abnormality of neuronal migration, Encephalocele, Spina bifida |
ORPHA:991 |
Arima Syndrome |
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Occipital meningocele, Gray matter heterotopia, Aplasia/Hypoplasia of the cerebellar vermis, Dila... |
OMIM:243910 |
Genitourinary And/Or Brain Malformation Syndrome |
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Dysplastic corpus callosum, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria, Chiari ma... |
OMIM:618820 |
9Q21.13 Microdeletion Syndrome |
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Gray matter heterotopia |
ORPHA:531151 |
Orofaciodigital Syndrome Type 6 |
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Abnormality of neuronal migration, Cerebellar vermis hypoplasia, Hypothalamic hamartoma |
ORPHA:2754 |
Hydrolethalus Syndrome 1 |
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Gray matter heterotopia, Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gy... |
OMIM:236680 |
Orofaciodigital Syndrome I |
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Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Hypothalamic hamartoma, Abnormal cortic... |
OMIM:311200 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:605039 |
Bilateral Perisylvian Polymicrogyria |
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Bilateral perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Abnorma... |
ORPHA:98889 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Gliosis, Gray matter heterotopia |
ORPHA:26791 |
Alg11-Cdg |
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Gray matter heterotopia |
ORPHA:280071 |
Orofaciodigital Syndrome Xvi |
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Gray matter heterotopia |
OMIM:617563 |
Holoprosencephaly |
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Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Abnorm... |
ORPHA:2162 |
Vici Syndrome |
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Cerebellar vermis hypoplasia, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Van Maldergem Syndrome 2 |
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Periventricular nodular heterotopia, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615546 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Ane Syndrome |
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Motor neuron atrophy, Delayed puberty, Short stature |
ORPHA:157954 |
Miller-Dieker Lissencephaly Syndrome |
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Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:247200 |
Opitz-Kaveggia Syndrome |
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Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter heterotopia |
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, Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Sandifer Syndrome |
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Abnormal posturing |
ORPHA:71272 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:3186 |
16Q24.3 Microdeletion Syndrome |
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Periventricular heterotopia, Colpocephaly |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
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Periventricular heterotopia, Agenesis of corpus callosum |
OMIM:618733 |
Periventricular Nodular Heterotopia 9 |
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Periventricular nodular heterotopia, Gray matter heterotopia, Polymicrogyria |
OMIM:618918 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Gray matter heterotopia, Agenesis of cerebellar vermis, Pachygyria, Stillbirth, Agenesis of corpu... |
OMIM:210710 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Orofaciodigital Syndrome Xiv |
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Periventricular heterotopia, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogyria, Simplified... |
OMIM:615948 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Amyotrophic lateral sclerosis |
OMIM:619132 |
Fontaine Progeroid Syndrome |
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Periventricular heterotopia, Gray matter heterotopia, Hydrocephalus, Cerebellar hypoplasia, Neona... |
OMIM:612289 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:619133 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia |
OMIM:610443 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormality of neuronal migration |
ORPHA:464311 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Hypothalamic atrophy |
ORPHA:2822 |
Smith-Lemli-Opitz Syndrome |
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Periventricular heterotopia, Hydrocephalus, Holoprosencephaly, Partial agenesis of the corpus cal... |
OMIM:270400 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia |
ORPHA:453499 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal hypothalamus morphology |
ORPHA:68 |
Idiopathic Camptocormia |
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Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:352665 |
Nijmegen Breakage Syndrome |
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Abnormality of neuronal migration |
ORPHA:647 |
Williams Syndrome |
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Abnormality of the diencephalon, Death in early adulthood |
ORPHA:904 |
Orofaciodigital Syndrome Type 14 |
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Partial agenesis of the corpus callosum, Periventricular heterotopia, Dilated fourth ventricle, D... |
ORPHA:434179 |
Norrie Disease |
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Abnormality of the diencephalon |
ORPHA:649 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Proteus Syndrome |
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Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Periventricular heterotopia, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Polymicrogyria... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Periventricular heterotopia, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Polymicrogyria... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Periventricular heterotopia, Agenesis of cerebellar vermis, Polymicrogyria, Cerebellar vermis hyp... |
ORPHA:2152 |