Spastic Paraplegia 25, Autosomal Recessive |
|
Spastic paraplegia, Spinal cord compression |
OMIM:608220 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Dystonia 31 |
|
Leg dystonia, Generalized dystonia, Writer's cramp, Dysphagia, Abnormal posturing, Arm dystonia, ... |
OMIM:619565 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic dysarthria, Abnormal upper motor neuron morphology, Dysphagia, Spastic gait, Spastic tetr... |
OMIM:611637 |
Lissencephaly 1 |
|
Gray matter heterotopia, Pachygyria, Axial hypotonia, Agyria, Spastic tetraparesis, Lissencephaly... |
OMIM:607432 |
Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Spastic tetraplegia, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band... |
OMIM:615411 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Spasticity, Gray matter heterotopia, Neonatal hypotonia, Pachygyria, Agyria, Axial hypotonia |
ORPHA:1084 |
Lissencephaly, X-Linked, 1 |
|
Spasticity, Death in infancy, Gray matter heterotopia, Pachygyria, Agyria, Axial hypotonia, Lisse... |
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 |
|
Hypotonia, Generalized hypotonia, Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hypotonia, Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Hydroceph... |
OMIM:618709 |
Juvenile Primary Lateral Sclerosis |
|
Spasticity, Spastic gait, Spastic dysarthria, Abnormal upper motor neuron morphology, Dysphagia, ... |
ORPHA:247604 |
Lissencephaly 3 |
|
Spastic tetraplegia, Polymicrogyria, Hypotonia, Generalized hypotonia, Gray matter heterotopia, P... |
OMIM:611603 |
Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Hyp... |
ORPHA:1083 |
Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Hypotonia, Myelomeningocele, Gen... |
OMIM:207950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Spastic tetraplegia, Hypotonia, Lissencephaly, Hypertonia, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Hyperactivity, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Spa... |
OMIM:604317 |
Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Spastic dysarthria, Pseudobulbar paralysis, Spasticity of pharyngeal muscles, Abnor... |
OMIM:606353 |
Sub-Cortical Nodular Heterotopia |
|
Spasticity, Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia |
ORPHA:101029 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Blepharospasm, Hypotonia, Generalized hypotonia, Generalized dystonia, Writer's cram... |
OMIM:128100 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dysphagia, Abnormal posturing, Dystonia |
OMIM:304700 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Primary Lateral Sclerosis |
|
Spasticity, Spastic dysarthria, Atrophy of the spinal cord, Abnormal lower motor neuron morpholog... |
ORPHA:35689 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Hydrocephalus |
OMIM:604213 |
Spinocerebellar Ataxia Type 2 |
|
Spinal cord posterior columns myelin loss, Abnormal cortical gyration, Kinetic tremor, Postural t... |
ORPHA:98756 |
Lissencephaly 5 |
|
Type II lissencephaly, Hydrocephalus, Hypotonia, Occipital encephalocele, Gray matter heterotopia... |
OMIM:615191 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Spastic gait, Retrocollis, Lower limb spasticity, Spastic dysarthria, Abnormal lower ... |
OMIM:205100 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
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 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Disinhibition, Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Disinhibition, Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616437 |
Maternal Hyperthermia-Induced Birth Defects |
|
Hypotonia, Hypertonia, Abnormality of neuronal migration |
ORPHA:2216 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Hydrocephalus, Occipital encephalocele, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Band Heterotopia |
|
Spasticity, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:600348 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Symmetrical Thalamic Calcifications |
|
Spasticity, Hypertonia, Abnormality of neuronal migration |
ORPHA:1314 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dysphagia, Amyotrophic lateral sclerosis, Dystonia, Athetosis |
OMIM:300857 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis... |
OMIM:602433 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Hypotonia, Attention deficit hyperactivity disorder, Periventricular nodular heterotopia |
OMIM:620065 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Attention deficit hyperactivity disorder, Generalized dystonia, Dysphagia, Opisthoton... |
ORPHA:216866 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Infantile muscular hypotonia, Titubation, Infantile axial hypotonia, Dysphagia, Abnormal posturin... |
ORPHA:225147 |
Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Infantile muscular hypotonia, Attention deficit hyperactivity disorder, Gray matt... |
ORPHA:300573 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Dysphagia, Spastic paraplegia, Spastic tetraplegia, Abnormal lower motor neuron morphology |
OMIM:607225 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology |
OMIM:611067 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Neonatal hypotonia, Generalized hypotonia, Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spasticity, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagia |
OMIM:617008 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spasticity, Spastic paraplegia, Abnormal spinal cord morphology, Progressive spastic paraplegia |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Amyotro... |
OMIM:602099 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Low... |
OMIM:613954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Hypotonia, Generalized hypotonia, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
Huntington Disease-Like 1 |
|
Generalized hypotonia, Abnormal posturing, Restlessness |
ORPHA:157941 |
Leber Congenital Amaurosis |
|
Encephalocele, Hypotonia, Abnormality of neuronal migration |
ORPHA:65 |
Boucher-Neuhauser Syndrome |
|
Spasticity, Intention tremor, Abnormal upper motor neuron morphology |
OMIM:215470 |
Hemimegalencephaly |
|
Polymicrogyria, Pachygyria, Abnormal neuron morphology, Gray matter heterotopia |
ORPHA:99802 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Abnormal spinal cord morphology, Hand tremor, Hydrocephalus |
ORPHA:99947 |
Subependymal Nodular Heterotopia |
|
Polymicrogyria, Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele... |
ORPHA:101030 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Lissencephaly 6 With Microcephaly |
|
Spasticity, Polymicrogyria, Limb hypertonia, Microlissencephaly, Simplified gyral pattern, Pachyg... |
OMIM:616212 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Abnormal lower motor neuron morphology, Dysphagia |
ORPHA:2590 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormal muscle tone, Microlissencephaly, Dysphagia, Abnormality of neur... |
ORPHA:89844 |
Neurocutaneous Melanocytosis |
|
Syringomyelia, Meningocele, Death in infancy, Abnormality of neuronal migration |
ORPHA:2481 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Type II lissencephaly, Polymicrogyria, Death in childhood, Hydrocephalus, Hypotoni... |
OMIM:614643 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Disinhibition, Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dy... |
ORPHA:275872 |
Glutathionuria |
|
Tremor, Action tremor, Gray matter heterotopia |
OMIM:231950 |
Brain Small Vessel Disease 2 |
|
Spastic tetraplegia, Polymicrogyria, Subcortical heterotopia |
OMIM:614483 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
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, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:93274 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Abnormal upper motor neuron morphology, Disinhibition |
OMIM:221770 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Generalized hypotonia, Periventricular heterotopia |
OMIM:618273 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hypotonia, Abnormal posturing |
OMIM:614857 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Hypotonia, Spasticity, Abnormality of neuronal migration |
OMIM:300957 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology |
ORPHA:52430 |
Poretti-Boltshauser Syndrome |
|
Hypotonia, Generalized hypotonia, Gray matter heterotopia |
OMIM:615960 |
Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Hypotonia, Gray matter heterotopia, Axial hy... |
OMIM:617201 |
Edinburgh Malformation Syndrome |
|
Hypertonia, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Polymicrogyria, Hypotonia, Generalized hypotonia, Gray matter heterotopia, Neonatal death, Axial ... |
OMIM:614887 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:616171 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Hypotonia, Pachygyria, Lis... |
ORPHA:899 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Infantile muscular hypotonia, Degeneration of anterior ho... |
ORPHA:1145 |
Joubert Syndrome |
|
Encephalocele, Polymicrogyria, Hydrocephalus, Hypotonia, Tremor, Abnormality of neuronal migration |
ORPHA:475 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Abnormal spinal cord morphology, Generalized hypotonia |
ORPHA:88628 |
Unilateral Polymicrogyria |
|
Spastic tetraplegia, Pseudobulbar paralysis, Appendicular hypotonia, Abnormal posturing, Axial hy... |
ORPHA:268943 |
Neonatal Adrenoleukodystrophy |
|
Hypotonia, Abnormality of neuronal migration |
ORPHA:44 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Dysphagia... |
ORPHA:276244 |
Joubert Syndrome 30 |
|
Hypotonia, Gray matter heterotopia |
OMIM:617622 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Desmosterolosis |
|
Spasticity, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Hydrocephalus, Rigidity, Pach... |
ORPHA:35107 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Spastic paraplegia, Resting tremor, Spastic gait, Lower l... |
OMIM:601162 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal lower motor neuron morphology |
ORPHA:93941 |
Thanatophoric Dysplasia |
|
Hypotonia, Gray matter heterotopia, Hydrocephalus |
ORPHA:2655 |
Man1B1-Cdg |
|
Polyphagia, Infantile muscular hypotonia, Resting tremor, Periventricular heterotopia |
ORPHA:397941 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Spasticity, Gray matter heterotopia |
OMIM:619694 |
Galloway-Mowat Syndrome |
|
Hypotonia, Aqueductal stenosis, Pachygyria, Hypertonia, Abnormality of neuronal migration |
ORPHA:2065 |
Thanatophoric Dysplasia, Type I |
|
Hypotonia, Gray matter heterotopia, Neonatal death, Hydrocephalus |
OMIM:187600 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Abnormal neuron morphology, Hypotonia, Abnormality of neuronal migration, Lower li... |
ORPHA:163681 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal lower motor neuron morphology, Generalized dystonia, Tremor, Oromandibular d... |
OMIM:614298 |
9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Gray matter heterotopia |
ORPHA:531151 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hydrocephalus, Communicating hydrocephalus, Hypotonia, Simplified gyral pattern, Gray matter hete... |
OMIM:615219 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Spina bifida, Opisthotonus, Pachygyria, L... |
ORPHA:2671 |
Alg11-Cdg |
|
Infantile muscular hypotonia, Limb hypertonia, Gray matter heterotopia, Opisthotonus, Axial hypot... |
ORPHA:280071 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Type II lissencephaly, Hydrocephalus, Hydromyelia, Hypotonia, Communicating hydroceph... |
OMIM:615287 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Spastic tetraplegia, Frontal polymicrogyria, Hypotonia, Gray matter heterotopia, Neonatal death, ... |
OMIM:620024 |
Radio-Tartaglia Syndrome |
|
Hypotonia, Attention deficit hyperactivity disorder, Gray matter heterotopia, Tremor, Dysphagia, ... |
OMIM:619312 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia |
OMIM:164180 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Macrogyria, Exencephaly, Pachygyria, L... |
ORPHA:2211 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hypotonia, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:2318 |
Vici Syndrome |
|
Dysphagia, Hypotonia, Abnormal posturing, Gray matter heterotopia |
OMIM:242840 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Gray matter hetero... |
ORPHA:370959 |
3C Syndrome |
|
Hypotonia, Death in infancy, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:7 |
Fragile X Syndrome |
|
Hyperactivity, Periventricular heterotopia |
OMIM:300624 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Myelopathy, Dysphagia, Abnormal spinal cord morphology, Spastic tetraparesis, Lowe... |
ORPHA:139396 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia, Periventricular heterotopia |
OMIM:614105 |
Congenital Disorder Of Deglycosylation 2 |
|
Dysphagia, Hypotonia, Polymicrogyria, Gray matter heterotopia |
OMIM:619775 |
Vici Syndrome |
|
Hypotonia, Death in infancy, Gray matter heterotopia |
ORPHA:1493 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Hypotonia, Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Hypotonia, Occipital encephalocele, Tremor, Abnormality of neuronal migration |
ORPHA:1454 |
Alkuraya-Kucinskas Syndrome |
|
Lissencephaly, Gray matter heterotopia, Generalized hypotonia, Hydrocephalus |
OMIM:617822 |
Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Spastic tetraplegia, Infantile muscular hypotonia, Limb hypertonia, Pseudobulbar para... |
ORPHA:98889 |
Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Hypotonia, Simplified gyral pattern, Generalized hypotonia, ... |
OMIM:601390 |
Thanatophoric Dysplasia Type 1 |
|
Hypotonia, Gray matter heterotopia, Hydrocephalus |
ORPHA:1860 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Hypotonia, Death in infancy, Neonatal hypotonia, Abnormality of neuronal migration |
OMIM:608836 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Hypertonia, Abnormality of neuronal migration |
ORPHA:2518 |
Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Generalized hypotonia, Gray matter heterotopia |
OMIM:617397 |
Holoprosencephaly |
|
Spasticity, Encephalocele, Spinal dysraphism, Hydrocephalus, Hypotonia, Holoprosencephaly, Spinal... |
ORPHA:2162 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Hypotonia, Hydrocephalus |
OMIM:619833 |
Coffin-Lowry Syndrome |
|
Death in early adulthood, Progressive spasticity, Hypotonia, Hypertonia, Abnormality of neuronal ... |
ORPHA:192 |
Holoprosencephaly 14 |
|
Hydrocephalus, Aqueductal stenosis, Generalized hypotonia, Holoprosencephaly, Alobar holoprosence... |
OMIM:619895 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypotonia, Generalized hypotonia, Gray matter heterotopia |
OMIM:608624 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Spasticity, Hypotonia, Gray matter heterotopia |
OMIM:618797 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Hydrocephalus, Generalized hypotonia, Pachygyria, Abnormality of neuronal migration |
ORPHA:228308 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons, Cogwh... |
ORPHA:79139 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Axial hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia, Impulsivity |
OMIM:618929 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618870 |
Orofaciodigital Syndrome Xvi |
|
Hypotonia, Gray matter heterotopia |
OMIM:617563 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Pachygyria, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:157 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Death in childhood, Polymicrogyria, Hypotonia, Generalized hypotonia, Gray matter heterotopia, Dy... |
OMIM:214100 |
16P13.11 Microdeletion Syndrome |
|
Hypertonia, Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:261236 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Meningocele, Death in infancy, Abnormality of neuronal migration |
ORPHA:991 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dysphagia, Hypotonia, Gray matter heterotopia |
ORPHA:26791 |
Orofaciodigital Syndrome Type 6 |
|
Tremor, Hypotonia, Generalized hypotonia, Abnormality of neuronal migration |
ORPHA:2754 |
Adrenomyeloneuropathy |
|
Spasticity, Spastic gait, Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal col... |
ORPHA:139399 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Spastic tetraplegia, Hydrocephalus, Rigidity, Periventricular heterotopia |
OMIM:618476 |
Aicardi Syndrome |
|
Polymicrogyria, Spina bifida, Hypotonia, Generalized hypotonia, Gray matter heterotopia, Pachygyria |
OMIM:304050 |
Miller-Dieker Lissencephaly Syndrome |
|
Infantile muscular hypotonia, Progressive spastic paraplegia, Gray matter heterotopia, Pachygyria... |
OMIM:247200 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
Opitz-Kaveggia Syndrome |
|
Spasticity, Hydrocephalus, Hypotonia, Attention deficit hyperactivity disorder, Gray matter heter... |
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 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Syringomyelia, Hypotonia, Gray matter heterotopia |
ORPHA:453499 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Spasticity, Polymicrogyria, Simplified gyral pattern, Lobar holoprosencephaly, Infantile axial hy... |
ORPHA:468631 |
Van Maldergem Syndrome 2 |
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Hypotonia, Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterot... |
OMIM:615546 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia, Generalized hypotonia, Hyperactivity, Impulsivity |
OMIM:610443 |
Bohring-Opitz Syndrome |
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Hypotonia, Gray matter heterotopia |
OMIM:605039 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
6Q Terminal Deletion Syndrome |
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Polymicrogyria, Infantile muscular hypotonia, Gray matter heterotopia, Abnormality of neuronal mi... |
ORPHA:75857 |
Arima Syndrome |
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Hypotonia, Generalized hypotonia, Gray matter heterotopia, Occipital meningocele, Polydipsia |
OMIM:243910 |
Cerebrofacioarticular Syndrome |
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Infantile muscular hypotonia, Gray matter heterotopia |
ORPHA:314679 |
Superficial Siderosis |
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Atrophy of the spinal cord, Dysgyria, Abnormal spinal cord morphology |
ORPHA:247245 |
Mosaic Trisomy 20 |
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Hypotonia, Infantile muscular hypotonia, Abnormal spinal cord morphology |
ORPHA:1724 |
16Q24.3 Microdeletion Syndrome |
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Dysphagia, Periventricular heterotopia |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
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Generalized hypotonia, Periventricular heterotopia |
OMIM:618733 |
Tetrasomy 9P |
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Polymicrogyria, Hyperactivity, Hydrocephalus, Generalized hypotonia, Abnormal spinal cord morphol... |
ORPHA:3310 |
Periventricular Nodular Heterotopia 9 |
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Polymicrogyria, Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Gr... |
OMIM:618918 |
Limb Body Wall Complex |
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Encephalocele, Hydrocephalus, Spina bifida, Myelomeningocele, Anencephaly, Spina bifida occulta, ... |
ORPHA:2369 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:603671 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Attention deficit hyperactivity disorder, Abnormality of neuronal migration |
ORPHA:464311 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Death in childhood, Abnormal cortical gyration, Polymicrogyria, Hydrocephalus, Microlissencephaly... |
OMIM:210710 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Myelomeningocele, Gray matter heterotopia, Hydrocephalus |
OMIM:311200 |
Genitourinary And/Or Brain Malformation Syndrome |
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Polymicrogyria, Attention deficit hyperactivity disorder, Holoprosencephaly, Gray matter heterotopia |
OMIM:618820 |
Fontaine Progeroid Syndrome |
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Hydrocephalus, Generalized hypotonia, Death in infancy, Gray matter heterotopia, Neonatal death, ... |
OMIM:612289 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Holoprosencephaly, Abnormality of neuronal migration |
ORPHA:3186 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal spinal cord morphology, Restlessness |
ORPHA:68 |
Hydrolethalus Syndrome 1 |
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Abnormal cortical gyration, Gray matter heterotopia, Anencephaly, Stillbirth, Severe hydrocephalu... |
OMIM:236680 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Hydrocephalus, Hypotonia, Generalized hypotonia, Holoprosencephaly, Death in infan... |
OMIM:270400 |
Nijmegen Breakage Syndrome |
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Attention deficit hyperactivity disorder, Abnormality of neuronal migration |
ORPHA:647 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Hypotonia, Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Hypotonia, Gray matter heterotopia |
ORPHA:352665 |
Orofaciodigital Syndrome Xiv |
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Polymicrogyria, Simplified gyral pattern, Generalized hypotonia, Holoprosencephaly, Occipital enc... |
OMIM:615948 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia |
OMIM:276300 |
Genitopatellar Syndrome |
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Hypotonia, Generalized hypotonia, Dysphagia, Pachygyria, Periventricular heterotopia |
OMIM:606170 |
Primary Sjögren Syndrome |
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Abnormal spinal cord morphology |
ORPHA:289390 |
Orofaciodigital Syndrome Type 14 |
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Hypotonia, Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
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Gray matter heterotopia |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Spasticity, Polymicrogyria, Infantile muscular hypotonia, Dysphagia, Periventricular heterotopia |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Spasticity, Polymicrogyria, Hypotonia, Dysphagia, Periventricular heterotopia |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Spasticity, Polymicrogyria, Infantile muscular hypotonia, Dysphagia, Periventricular heterotopia |
ORPHA:261552 |