Spastic Paraplegia 25, Autosomal Recessive |
|
Spastic paraplegia, Spinal cord compression |
OMIM:608220 |
Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ... |
OMIM:619565 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait, Spastic tetraparesis, Spastic dysarthria, D... |
OMIM:611637 |
Lissencephaly 1 |
|
Lissencephaly, Pachygyria, Spastic tetraparesis, Agyria, Gray matter heterotopia, Subcortical ban... |
OMIM:607432 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, L... |
OMIM:615411 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Spasticity, Neonatal hypotonia, Pachygyria, Agyria, Gray matter heterotopia, Axial hypotonia |
ORPHA:1084 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hypotonia, Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Hydroceph... |
OMIM:618709 |
Lissencephaly, X-Linked, 1 |
|
Lissencephaly, Spasticity, Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Axial h... |
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, Periventricular heterotopia, Generalized hypotonia |
OMIM:608097 |
Juvenile Primary Lateral Sclerosis |
|
Spasticity, Abnormal upper motor neuron morphology, Spastic gait, Spastic tetraparesis, Spastic d... |
ORPHA:247604 |
Lissencephaly 3 |
|
Polymicrogyria, Generalized hypotonia, Periventricular laminar heterotopia, Hypotonia, Pachygyria... |
OMIM:611603 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... |
OMIM:604317 |
Microlissencephaly |
|
Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcortical heterotopia, Lis... |
ORPHA:1083 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypotonia, Hypertonia, Periventricular ribbonlike heterotopia, Spastic tetraplegia, Lissencephaly |
OMIM:618677 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Generalized hypotonia, Myelomeningocele, Hypotonia, Syringomyelia, Opisthoto... |
OMIM:207950 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Appendicular spasticity, Spastici... |
OMIM:606353 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Abnormal posturing, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor... |
OMIM:128100 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Spasticity, Polymicrogyria |
ORPHA:101029 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor, Dystonia, Dysphagia |
OMIM:304700 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Hypotonia, Hypertonia |
ORPHA:2216 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Acalvaria |
|
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Spinal cord posterior columns myelin loss, Generalized hypotonia, Abn... |
ORPHA:98756 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
Primary Lateral Sclerosis |
|
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... |
ORPHA:35689 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Lissencephaly 5 |
|
Spastic paraplegia, Occipital encephalocele, Type II lissencephaly, Hypotonia, Hydrocephalus, Gra... |
OMIM:615191 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Arm dystonia, Amyotrophic lateral sclerosis, Generalized dystonia, Abnormal upper mot... |
OMIM:205100 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia, Hypotonia, Attention deficit hyperactivity disorder, Motor s... |
OMIM:620065 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Generalized hypotonia, Neonatal death, Paucity of anterio... |
OMIM:611890 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition |
OMIM:616437 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia |
ORPHA:352682 |
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 |
|
Abnormality of neuronal migration, Spasticity, Hypertonia |
ORPHA:1314 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dystonia, Athetosis, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:300857 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Infantile mus... |
ORPHA:300573 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Abnormal posturing, Generalized dystonia, Opisthotonus, Attention deficit hyperactivi... |
ORPHA:216866 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low... |
OMIM:602433 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Progressive extrapyramidal muscular rigidity, Resting tremor, Infantile axial... |
ORPHA:225147 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Spastic paraplegia, Dysphagia, Spastic tetraplegia |
OMIM:607225 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hypotension |
OMIM:263570 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand tremor, Postural tremor, Restless legs, Hydrocephalus, Abnormal spinal cord morphology |
ORPHA:99947 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Spasticity, Gray matter heterotopia, Dysphagia, Spastic tetraplegia, Spastic diplegia |
OMIM:617008 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spinal cord lesion, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:320355 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Dysphagia, Tremor |
ORPHA:2590 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Spasticity, Abnormal spinal cord morphology, Progressive spastic paraplegia |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Spasticity, Amyotrophic lateral sclerosis |
OMIM:602099 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Lower limb spa... |
OMIM:613954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Hypotonia, Pachygyria, Generalized hypotonia |
OMIM:608840 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Spasticity, Intention tremor |
OMIM:215470 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Hypotonia, Encephalocele |
ORPHA:65 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing, Generalized hypotonia |
ORPHA:157941 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Disinhibition, Abnormal lower motor neuron morphology, Ab... |
ORPHA:275872 |
Lissencephaly 6 With Microcephaly |
|
Spasticity, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Limb hypertonia, Pac... |
OMIM:616212 |
Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Abnormal neuron morphology, Polymicrogyria |
ORPHA:99802 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal muscle tone, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, 4-layered... |
ORPHA:89844 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Inappropriate behavior, Abnormal upper motor neuron morphology, Disinhibition, Aggres... |
OMIM:221770 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... |
ORPHA:101030 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Generalized hypotonia, Type II lissencephaly, Polymicrogyria, Hypotonia, Encephalocele, Death in ... |
OMIM:614643 |
Neurocutaneous Melanocytosis |
|
Syringomyelia, Meningocele, Abnormality of neuronal migration, Death in infancy |
ORPHA:2481 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Neonatal hypotonia, Generalized hypotonia |
ORPHA:370980 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Spastic tetraplegia, Polymicrogyria |
OMIM:614483 |
Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Abnormal spinal cord morphology |
ORPHA:494 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Hypotonia, Self-mutilation, Stereotypical hand wringing, Abnormality of... |
ORPHA:163681 |
Glutathionuria |
|
Gray matter heterotopia, Action tremor, Tremor |
OMIM:231950 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness |
ORPHA:100070 |
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 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Hypotonia, Spasticity, Tremor |
OMIM:300957 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... |
OMIM:606070 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia, Generalized hypotonia |
OMIM:618273 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hypotonia, Abnormal posturing |
OMIM:614857 |
Thanatophoric Dysplasia Type 2 |
|
Hypotonia, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly |
ORPHA:93274 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve compression |
ORPHA:52430 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Hypotonia, Generalized hypotonia |
OMIM:615960 |
Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Hypotonia, Gray matter heterotopia, Axial hy... |
OMIM:617201 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Hypotonia, Polymicrogyria |
OMIM:617622 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:616171 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus, Hypertonia |
ORPHA:1895 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Polymicrogyria, Generalized hypotonia, Hypotonia, Neonatal death, Gray matter heterotopia, Axial ... |
OMIM:614887 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Infantile muscular hypotonia, Abnormal anterior horn cell morphology, Degeneration of anterior ho... |
ORPHA:1145 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Joubert Syndrome |
|
Polymicrogyria, Hypotonia, Encephalocele, Tremor, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:475 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Pseudobulbar paralysis, Appendicular hypotonia, Spastic tetraplegia, Axial hy... |
ORPHA:268943 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Dystonia,... |
ORPHA:276244 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Abnormal spinal cord morphology, Generalized hypotonia |
ORPHA:88628 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Hypotonia |
ORPHA:44 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Hypotonia, Abnormality of neuronal migration, Hydroce... |
ORPHA:899 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Fragile X Syndrome |
|
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting |
OMIM:300624 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Lower limb spasticity... |
OMIM:601162 |
Man1B1-Cdg |
|
Polyphagia, Periventricular heterotopia, Resting tremor, Infantile muscular hypotonia |
ORPHA:397941 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia, Spasticity |
OMIM:619694 |
Radio-Tartaglia Syndrome |
|
Hypotonia, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Gray... |
OMIM:619312 |
Galloway-Mowat Syndrome |
|
Hypotonia, Abnormality of neuronal migration, Hypertonia, Pachygyria, Aqueductal stenosis |
ORPHA:2065 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Hypotonia, Hydrocephalus |
ORPHA:2655 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hypotonia, Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Si... |
OMIM:615219 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Hypotonia, Hydrocephalus, Neonatal death |
OMIM:187600 |
9Q21.13 Microdeletion Syndrome |
|
Syringomyelia, Gray matter heterotopia |
ORPHA:531151 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Generalized dystonia, Tremor, Abnormal lower motor neuron morphology, Oromandibular d... |
OMIM:614298 |
Alg11-Cdg |
|
Opisthotonus, Limb hypertonia, Infantile muscular hypotonia, Hypertonia, Gray matter heterotopia,... |
ORPHA:280071 |
Desmosterolosis |
|
Spasticity, Abnormal cortical gyration, Polymicrogyria, Rigidity, Abnormality of neuronal migrati... |
ORPHA:35107 |
Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Hypotonia, Neonatal death, Frontal polymicrogyria, Hypertonia, Pachygyria, Dystonia, Gray matter ... |
OMIM:620024 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Opisthotonus, Spin... |
ORPHA:2671 |
Spinal Cord Injury |
|
Syringomyelia, Spinal cord lesion, Spasticity, Allodynia |
ORPHA:90058 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
Vici Syndrome |
|
Gray matter heterotopia, Hypotonia, Dysphagia, Abnormal posturing |
OMIM:242840 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hydrocephalus, Gray matter hetero... |
ORPHA:370959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Hydromyelia, Occipital encephalocele, Type II lissencephaly, Hypotonia, Severe muscul... |
OMIM:615287 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Hypotonia, Encephalocele |
ORPHA:2318 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Self-injurious behavior, Hypotonia, Periventricular heterotopia, Aggressive behavior, Hydrocephalus |
OMIM:619833 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
3C Syndrome |
|
Abnormality of neuronal migration, Hypotonia, Hydrocephalus, Death in infancy |
ORPHA:7 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Lower limb spasticity, Abnormal spinal cord morphology, Hyperactivity, Spastic tetrap... |
ORPHA:139396 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
16P13.11 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormality of neuronal migration, Hypertonia, Compulsive behaviors, Hol... |
ORPHA:261236 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Dystonia, Periventricular heterotopia |
OMIM:614105 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Hypotonia, Dysphagia, Polymicrogyria |
OMIM:619775 |
Japanese Encephalitis |
|
Pill-rolling tremor, Cogwheel rigidity, Tremor, Opisthotonus, Hypertonia, Anorexia, Paucity of an... |
ORPHA:79139 |
Coffin-Lowry Syndrome |
|
Self-injurious behavior, Hypotonia, Death in early adulthood, Abnormality of neuronal migration, ... |
ORPHA:192 |
Vici Syndrome |
|
Gray matter heterotopia, Hypotonia, Death in infancy |
ORPHA:1493 |
Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria... |
ORPHA:98889 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Hypotonia, Periventricular heterotopia |
ORPHA:255138 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... |
ORPHA:2211 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hypotonia, Tremor, Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1454 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Self-injurious behavior, Periventricular heterotopia, Impulsivity, Attention deficit hyperactivit... |
OMIM:618929 |
Van Maldergem Syndrome 1 |
|
Generalized hypotonia, Periventricular nodular heterotopia, Hypotonia, Pachygyria, Gray matter he... |
OMIM:601390 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Lissencephaly, Generalized hypotonia |
OMIM:617822 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria, Generalized hypotonia |
OMIM:617397 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal hypotonia, Polymicrogyria, Hypotonia, Death in infancy, Abnormality of neuronal migration |
OMIM:608836 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Hypertonia |
ORPHA:2518 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia, Hypotonia, Hydrocephalus |
ORPHA:1860 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Neonatal hypotonia, Generalized hypotonia |
OMIM:608624 |
Holoprosencephaly |
|
Spasticity, Spinal dysraphism, Hypotonia, Encephalocele, Abnormality of neuronal migration, Hydro... |
ORPHA:2162 |
Galloway-Mowat Syndrome 1 |
|
Spasticity, Hypotonia, Abnormality of neuronal migration, Pachygyria, Dystonia, Spastic tetrapleg... |
OMIM:251300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Generalized hypotonia, Abnormality of neuronal migration, Hydrocephalus, Pachygyria |
ORPHA:228308 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Inappropriate laughter, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic... |
OMIM:618476 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia, Hypotonia, Spasticity |
OMIM:618797 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Hypotonia, Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618870 |
Holoprosencephaly 14 |
|
Alobar holoprosencephaly, Generalized hypotonia, Periventricular heterotopia, Hydrocephalus, Gray... |
OMIM:619895 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria |
ORPHA:157 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Hypotonia |
OMIM:617563 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Polymicrogyria, Generalized hypotonia, Hypotonia, Death in childhood, Gray matter heterotopia, Dy... |
OMIM:214100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Hypotonia, Dysphagia |
ORPHA:26791 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Spasticity, Polymicrogyria, Infantile axial hypotonia, Periventricular h... |
ORPHA:468631 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Syringomyelia, Bruxism, Hypotonia, Gray matter heterotopia |
ORPHA:453499 |
Pagod Syndrome |
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Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele |
ORPHA:991 |
Orofaciodigital Syndrome Type 6 |
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Abnormality of neuronal migration, Hypotonia, Tremor, Generalized hypotonia |
ORPHA:2754 |
Adrenomyeloneuropathy |
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Spasticity, Progressive spastic paraparesis, Dorsal column degeneration, Atrophy of the spinal co... |
ORPHA:139399 |
Miller-Dieker Lissencephaly Syndrome |
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Progressive spastic paraplegia, Pachygyria, Infantile muscular hypotonia, Gray matter heterotopia... |
OMIM:247200 |
Aicardi Syndrome |
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Polymicrogyria, Generalized hypotonia, Hypotonia, Spina bifida, Pachygyria, Gray matter heterotopia |
OMIM:304050 |
Acute Disseminated Encephalomyelitis |
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Aggressive behavior, Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Opitz-Kaveggia Syndrome |
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Spasticity, Neonatal hypotonia, Hypotonia, Attention deficit hyperactivity disorder, Hydrocephalu... |
OMIM:305450 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of neuronal migration |
ORPHA:2063 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia, Hydrocephalus |
OMIM:219730 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
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Gray matter heterotopia, Lower limb spasticity |
OMIM:620475 |
Koolen-De Vries Syndrome |
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Gray matter heterotopia, Hyperactivity, Impulsivity, Generalized hypotonia |
OMIM:610443 |
Cerebrofacioarticular Syndrome |
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Self-injurious behavior, Gray matter heterotopia, Infantile muscular hypotonia |
ORPHA:314679 |
Van Maldergem Syndrome 2 |
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Gray matter heterotopia, Periventricular nodular heterotopia, Hypotonia, Subcortical band heterot... |
OMIM:615546 |
6Q Terminal Deletion Syndrome |
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Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Infantile muscula... |
ORPHA:75857 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Hypotonia |
OMIM:605039 |
Arima Syndrome |
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Polydipsia, Generalized hypotonia, Hypotonia, Gray matter heterotopia, Occipital meningocele |
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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Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Co... |
OMIM:618918 |
Tetrasomy 9P |
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Inappropriate behavior, Generalized hypotonia, Polymicrogyria, Pachygyria, Hydrocephalus, Abnorma... |
ORPHA:3310 |
Mosaic Trisomy 20 |
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Hypotonia, Abnormal spinal cord morphology, Infantile muscular hypotonia |
ORPHA:1724 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
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Gray matter heterotopia, Hypotonia |
OMIM:620654 |
16Q24.3 Microdeletion Syndrome |
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Periventricular heterotopia, Dysphagia |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
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Periventricular heterotopia, Generalized hypotonia |
OMIM:618733 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:464311 |
Limb Body Wall Complex |
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Myelomeningocele, Encephalocele, Abnormal spinal cord morphology, Spina bifida, Hydrocephalus, Sp... |
ORPHA:2369 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Abnormal cortical gyration, Polymicrogyria, Pachygyria, Death in childhood, Death in infancy, Mic... |
OMIM:210710 |
Orofaciodigital Syndrome I |
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Myelomeningocele, Abnormal cortical gyration, Gray matter heterotopia, Hydrocephalus |
OMIM:311200 |
Fontaine Progeroid Syndrome |
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Generalized hypotonia, Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocephal... |
OMIM:612289 |
Smith-Lemli-Opitz Syndrome |
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Generalized hypotonia, Hypotonia, Periventricular heterotopia, Self-mutilation, Death in infancy,... |
OMIM:270400 |
Genitourinary And/Or Brain Malformation Syndrome |
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Gray matter heterotopia, Attention deficit hyperactivity disorder, Holoprosencephaly, Polymicrogyria |
OMIM:618820 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Gray matter heterotopia, Bruxism, Hypotonia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Gray matter heterotopia, Bruxism, Hypotonia |
ORPHA:352665 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:3186 |
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, Stillbirth, Gray matter heterotopia, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
Orofaciodigital Syndrome Xiv |
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Occipital encephalocele, Polymicrogyria, Generalized hypotonia, Periventricular heterotopia, Holo... |
OMIM:615948 |
Acromelic Frontonasal Dysostosis |
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Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele |
OMIM:603671 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Genitopatellar Syndrome |
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Generalized hypotonia, Hypotonia, Periventricular heterotopia, Pachygyria, Dysphagia |
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, Bruxism, Periventricular heterotopia, Dysphagia, Infantile muscular h... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Spasticity, Polymicrogyria, Bruxism, Hypotonia, Periventricular heterotopia, Dysphagia, Motor ste... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Spasticity, Polymicrogyria, Bruxism, Periventricular heterotopia, Dysphagia, Infantile muscular h... |
ORPHA:261552 |