Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Spastic paraplegia |
OMIM:608220 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Abnormal posturing, ... |
OMIM:619565 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas... |
OMIM:611637 |
Lissencephaly 1 |
|
Axial hypotonia, Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lis... |
OMIM:607432 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... |
OMIM:615411 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Attention deficit hyperactivity diso... |
OMIM:618709 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Axial hypotonia, Gray matter heterotopia, Neonatal hypotonia, Spasticity, Pachygyria, Agyria |
ORPHA:1084 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Axial hypotonia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria... |
OMIM:300067 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Hypotonia, Generalized hypotonia, Periventricular heterotopia |
OMIM:608097 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron morphology, Spas... |
ORPHA:247604 |
Lissencephaly 3 |
|
Agyria, Periventricular laminar heterotopia, Hypotonia, Spastic tetraplegia, Gray matter heteroto... |
OMIM:611603 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Polymicrogyria, Simplified... |
OMIM:604317 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Hypertonia, Lisse... |
ORPHA:1083 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypotonia, Spastic tetraplegia, Hypertonia, Lissencephaly, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Hypotonia, Opisthotonus, Cervical myelopathy, Gray... |
OMIM:207950 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Spastic dysarthria, Pseudobulbar paralysis, Spasti... |
OMIM:606353 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Torsion dystonia, Hypotonia, Blepharos... |
OMIM:128100 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Spasticity, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Spasticity, Dysphagia, Abnormal posturing |
OMIM:304700 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration |
ORPHA:945 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Progressive spastic parapares... |
ORPHA:35689 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Postural tremor, Abnormal cortical gyration, Spinal cord posterior columns myelin... |
ORPHA:98756 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Spastic paraplegia, Spastic tetraplegia, Dysphagia |
OMIM:607225 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Spastic paraplegia, Subcortical band heterotopia, Hypoton... |
OMIM:615191 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit... |
OMIM:620065 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Gen... |
OMIM:205100 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Generalized hypot... |
OMIM:611890 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypertonia, Hypotonia, Abnormality of neuronal migration |
ORPHA:2216 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly |
ORPHA:352682 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Spasticity, Polymicrogyria |
OMIM:600348 |
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 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Hypertonia, Abnormality of neuronal migration |
ORPHA:1314 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Attention deficit hyperactivi... |
ORPHA:300573 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia |
OMIM:300857 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Infantile axial hypotonia, Dysphagia, Titubation, Dystonia, Progressive extrapyra... |
ORPHA:225147 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Spasticity, Opisthotonus, Attention deficit hyperactivity disorder, Dysphag... |
ORPHA:216866 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness |
OMIM:611067 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Postural tremor, Abnormal spinal cord morphology, Hydrocephalus, Hand tremor |
ORPHA:99947 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Neonatal hypotonia, Gray matter heterotopia, Pachygyria, Generalized hypotonia |
ORPHA:370980 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagia, Spasticity |
OMIM:617008 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology, Spastic paraplegia, Spasticity, Progressive spastic paraplegia |
ORPHA:139578 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Dys... |
OMIM:613954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Hypotonia, Generalized hypotonia, Abnormality of neuronal migration |
OMIM:608840 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Leber Congenital Amaurosis |
|
Encephalocele, Hypotonia, Abnormality of neuronal migration |
ORPHA:65 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing, Generalized hypotonia |
ORPHA:157941 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Spasticity, Intention tremor |
OMIM:215470 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Lissencephaly, Spastic... |
OMIM:616212 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Dysphagia |
ORPHA:2590 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Abnormal muscle t... |
ORPHA:89844 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal upper motor neuron morpholog... |
OMIM:221770 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Meningocele, Syringomyelia, Abnormality of neuronal migration |
ORPHA:2481 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Hydrocephalus, Hypotonia, Gray ... |
OMIM:614643 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Action tremor |
OMIM:231950 |
Brain Small Vessel Disease 2 |
|
Polymicrogyria, Subcortical heterotopia, Spastic tetraplegia |
OMIM:614483 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Disinhibition, Dysphagia, Abnormal upper motor neuron mor... |
ORPHA:275872 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Abnormal spinal cord morphology |
ORPHA:494 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Hypotonia,... |
ORPHA:163681 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:93274 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Generalized hypotonia, Periventricular heterotopia |
OMIM:618273 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Spasticity, Hypotonia, Abnormality of neuronal migration |
OMIM:300957 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Hypotonia |
OMIM:614857 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology |
ORPHA:52430 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Hypotonia, Generalized hypotonia |
OMIM:615960 |
Periventricular Nodular Heterotopia 7 |
|
Axial hypotonia, Hypotonia, Gray matter heterotopia, Periventricular nodular heterotopia, Polymic... |
OMIM:617201 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia, Abnormality of neuronal migration |
ORPHA:1895 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Axial hypotonia, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Neonatal death, Polym... |
OMIM:614887 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Macrogyr... |
ORPHA:899 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Generalized hypotoni... |
ORPHA:1145 |
Joubert Syndrome |
|
Encephalocele, Tremor, Hydrocephalus, Hypotonia, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Atrophy of the spinal cord, Tremor |
ORPHA:99965 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Abnormal spinal cord morphology, Generalized hypotonia |
ORPHA:88628 |
Neonatal Adrenoleukodystrophy |
|
Hypotonia, Abnormality of neuronal migration |
ORPHA:44 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Dysphagia, Degeneration of anterior horn cells, Spinocere... |
ORPHA:276244 |
Unilateral Polymicrogyria |
|
Axial hypotonia, Perisylvian polymicrogyria, Spastic tetraplegia, Appendicular hypotonia, Pseudob... |
ORPHA:268943 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Hypotonia |
OMIM:617622 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Periventricular heterotopia, Self-biting |
OMIM:300624 |
Desmosterolosis |
|
Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neuronal migration, Macrogyri... |
ORPHA:35107 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Resting tremor, Lower limb spasticity, Spastic paraplegia, Abnormal upper motor neuron morphology... |
OMIM:601162 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency |
ORPHA:93941 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hydrocephalus, Hypotonia |
ORPHA:2655 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Hypotonia, Abnormality of neuronal migration, Hypertonia, Pachygyria |
ORPHA:2065 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Tremor, Hypotonia, Gray matter heterotopia, Attention deficit h... |
OMIM:619312 |
Man1B1-Cdg |
|
Resting tremor, Periventricular heterotopia, Polyphagia, Infantile muscular hypotonia |
ORPHA:397941 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Hydrocephalus, Hypotonia |
OMIM:187600 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Hypotonia, Gray matter hete... |
OMIM:615219 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Syringomyelia |
ORPHA:531151 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Impulsivity, Tremor, Dystonia, Orom... |
OMIM:614298 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Abnormality of neuronal migration, Macrogyria, Opisthot... |
ORPHA:2671 |
Alg11-Cdg |
|
Axial hypotonia, Opisthotonus, Gray matter heterotopia, Hypertonia, Infantile muscular hypotonia,... |
ORPHA:280071 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Severe muscular hypotonia, Hydrocephalus, A... |
OMIM:615287 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Hypotonia, Spastic tetraplegia, Gray matter heterotopia, Hypertonia, Dyst... |
OMIM:620024 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Hypotonia, Abnormality of neuronal migration |
ORPHA:2318 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissence... |
ORPHA:370959 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Aggressive behavior, Hydrocephalus, Hypotonia, Self-injurious behavior |
OMIM:619833 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
3C Syndrome |
|
Death in infancy, Hydrocephalus, Hypotonia, Abnormality of neuronal migration |
ORPHA:7 |
Vici Syndrome |
|
Gray matter heterotopia, Abnormal posturing, Hypotonia, Dysphagia |
OMIM:242840 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Self-injurious behavior, Hypertonia, Holoprosencephaly, Compul... |
ORPHA:261236 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia, Hypotonia, Dystonia |
OMIM:614105 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morp... |
ORPHA:139396 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria, Hypotonia, Dysphagia |
OMIM:619775 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Hypotonia, Abnormality of neuronal migration, Self-injurious behavior, ... |
ORPHA:192 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Perisylvian predominant thick cortex pachygyria, Spastic tetraplegia, Dysp... |
ORPHA:98889 |
Vici Syndrome |
|
Gray matter heterotopia, Death in infancy, Hypotonia |
ORPHA:1493 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Hypotonia, Periventricular heterotopia |
ORPHA:255138 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Anorexia, Paucity of anterior horn motor neur... |
ORPHA:79139 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Tremor, Hydrocephalus, Hypotonia, Abnormality of neuronal migration |
ORPHA:1454 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Generalized hypotonia |
OMIM:617822 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Axial hypotonia, Impulsivity, Periventricular heterotopia, Self-injurious behavior, Attention def... |
OMIM:618929 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Hypotonia, Gray matter heterotopia, Gener... |
OMIM:601390 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hydrocephalus, Hypotonia |
ORPHA:1860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Hypotonia, Abnormality of neuronal migration, Neonatal hypotonia, Polymicrogyria |
OMIM:608836 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Generalized hypotonia |
OMIM:617397 |
Holoprosencephaly |
|
Encephalocele, Hydrocephalus, Spinal cord tumor, Hypotonia, Spinal dysraphism, Abnormality of neu... |
ORPHA:2162 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Gray m... |
OMIM:619895 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetraplegia, Inappropriate laughter... |
OMIM:618476 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypotonia, Gray matter heterotopia, Generalized hypotonia |
OMIM:608624 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Generalized hypotonia, Polymicrogyria |
ORPHA:228308 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Spasticity, Hypotonia |
OMIM:618797 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618870 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Hydrocephalus, Pachygyria, Abnormality of neuronal migration |
ORPHA:157 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Hypotonia |
OMIM:617563 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypotonia, Dysphagia, Gray matter heterotopia, Generalized hypotonia, Death in childhood, Polymic... |
OMIM:214100 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Lobar holoprosencephaly, Self-injurious be... |
ORPHA:468631 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Abnormality of neuronal migration |
ORPHA:991 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Hypotonia, Dysphagia |
ORPHA:26791 |
Orofaciodigital Syndrome Type 6 |
|
Tremor, Hypotonia, Generalized hypotonia, Abnormality of neuronal migration |
ORPHA:2754 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Syringomyelia, Hypotonia, Bruxism |
ORPHA:453499 |
Adrenomyeloneuropathy |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Progressive spastic paraparesis, Dor... |
ORPHA:139399 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
Aicardi Syndrome |
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Spina bifida, Hypotonia, Gray matter heterotopia, Generalized hypotonia, Pachygyria, Polymicrogyria |
OMIM:304050 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Lissencephaly, Infantile muscular hypotonia, Pachygyria, Agyria, Progres... |
OMIM:247200 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis, Aggressive behavior |
ORPHA:83597 |
Opitz-Kaveggia Syndrome |
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Hydrocephalus, Hypotonia, Gray matter heterotopia, Attention deficit hyperactivity disorder, Neon... |
OMIM:305450 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Cerebrofacioarticular Syndrome |
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Gray matter heterotopia, Self-injurious behavior, Infantile muscular hypotonia |
ORPHA:314679 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypot... |
OMIM:615546 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia, Hyperactivity, Impulsivity, Generalized hypotonia |
OMIM:610443 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Hypotonia |
OMIM:605039 |
6Q Terminal Deletion Syndrome |
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Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Infantil... |
ORPHA:75857 |
Arima Syndrome |
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Hypotonia, Gray matter heterotopia, Generalized hypotonia, Occipital meningocele, Polydipsia |
OMIM:243910 |
Superficial Siderosis |
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Atrophy of the spinal cord, Abnormal spinal cord morphology, Dysgyria |
ORPHA:247245 |
Periventricular Nodular Heterotopia 9 |
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Gray matter heterotopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Perivent... |
OMIM:618918 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology, Hypotonia, Infantile muscular hypotonia |
ORPHA:1724 |
Tetrasomy 9P |
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Hyperactivity, Abnormal spinal cord morphology, Hydrocephalus, Inappropriate behavior, Lissenceph... |
ORPHA:3310 |
16Q24.3 Microdeletion Syndrome |
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Periventricular heterotopia, Dysphagia |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
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Generalized hypotonia, Periventricular heterotopia |
OMIM:618733 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention deficit hyperactivit... |
ORPHA:464311 |
Limb Body Wall Complex |
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Encephalocele, Spina bifida, Abnormal spinal cord morphology, Myelomeningocele, Hydrocephalus, An... |
ORPHA:2369 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Gray matter heterotopia, Periventricular nodular heterotopia |
OMIM:603671 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Death in infancy, Abnormal cortical gyration, Hydrocephalus, Microlissencephaly, Gray matter hete... |
OMIM:210710 |
Genitourinary And/Or Brain Malformation Syndrome |
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Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Attention deficit hyperactivity disorder |
OMIM:618820 |
Smith-Lemli-Opitz Syndrome |
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Death in infancy, Hyperactivity, Aggressive behavior, Periventricular heterotopia, Hydrocephalus,... |
OMIM:270400 |
Orofaciodigital Syndrome I |
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Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus |
OMIM:311200 |
Fontaine Progeroid Syndrome |
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Death in infancy, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Generalize... |
OMIM:612289 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Hypotonia, Bruxism |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Hypotonia, Bruxism |
ORPHA:352665 |
Amoebiasis Due To Free-Living Amoebae |
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Restlessness, Abnormal spinal cord morphology |
ORPHA:68 |
Nijmegen Breakage Syndrome |
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Abnormality of neuronal migration, Attention deficit hyperactivity disorder |
ORPHA:647 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalus |
OMIM:236680 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Periventricular heterotopia, Simplified gyral pattern, Holoprosencephaly... |
OMIM:615948 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Hypotonia, Generalized hypotonia, Dysphagia, Pachygyria |
OMIM:606170 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology |
ORPHA:289390 |
Orofaciodigital Syndrome Type 14 |
|
Hypotonia, Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Periventricular heterotopia, Dysphagia, Bruxism, Spasticity, Polymicrogyria, Abnormal repetitive ... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Hypotonia, Bruxism, Dysphagia, Spasticity, Polymicrogyria, Abnormal ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Periventricular heterotopia, Dysphagia, Bruxism, Spasticity, Polymicrogyria, Abnormal repetitive ... |
ORPHA:261552 |