| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lowe... |
ORPHA:309169 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression, Spastic paraplegia |
OMIM:608220 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness |
OMIM:616227 |
| Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Microcephaly, Hypoplasia of the po... |
OMIM:618276 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... |
OMIM:604484 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness |
OMIM:616330 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... |
ORPHA:98 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Axonal degenera... |
OMIM:620011 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness |
OMIM:614750 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Distal amyotrophy... |
OMIM:614436 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... |
OMIM:616053 |
| Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata... |
ORPHA:206448 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Hand muscle atrophy, Toe extensor amyotro... |
ORPHA:98856 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
| Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
| Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys... |
OMIM:614860 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Abnormal pons morphology, Progressive spasticity, ... |
ORPHA:171622 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Kinetic tremor, Postural tremor, Parkinsonism, Olivopontoce... |
ORPHA:98756 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
| Developmental And Epileptic Encephalopathy 69 |
|
Corpus callosum atrophy, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myo... |
OMIM:618285 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations |
ORPHA:65684 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:100999 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,... |
OMIM:617018 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... |
ORPHA:2589 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... |
ORPHA:276435 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis |
OMIM:213000 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... |
ORPHA:401820 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations |
OMIM:615048 |
| Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... |
ORPHA:423275 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn... |
OMIM:618811 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, Neuronal loss in... |
OMIM:611721 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia, Global brain atrophy |
OMIM:613721 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... |
OMIM:608030 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... |
OMIM:616981 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parap... |
OMIM:607483 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... |
OMIM:613954 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Upper limb muscle weakness, Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:302802 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Tremor, Decreased number of large per... |
OMIM:208920 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Dysplastic corpus callosum, Flexion contracture, ... |
OMIM:613162 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Upper limb amyotrophy, Limb fascicula... |
ORPHA:99940 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... |
OMIM:615924 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, M... |
OMIM:616230 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
| X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Babinski sign, Dysmetria, Clumsiness, Sp... |
ORPHA:1175 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Pontocere... |
OMIM:617854 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... |
ORPHA:98759 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Hand muscle weakness, Tremor, Intrins... |
ORPHA:101077 |
| Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spas... |
OMIM:615643 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Elbow flexion contracture, Knee flexio... |
OMIM:619303 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Fasciculations, Chronic... |
OMIM:606595 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Impaired temperature sensation, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:171863 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... |
OMIM:614487 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Favorable response ... |
ORPHA:353327 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations |
OMIM:619141 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Clonus, Abnormal spinal cord morphology, Babinski sign, Spastic paraplegia, Distal amyotrophy, Sp... |
ORPHA:139578 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Spinal muscular atrophy, Lower limb muscle weakness, Fasciculations, Weakness of the intrinsic ha... |
OMIM:615575 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Fatigable weakness |
OMIM:618197 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
| Dystonia 15, Myoclonic |
|
Myoclonus, Writer's cramp, Dystonia |
OMIM:607488 |
| Hereditary Geniospasm |
|
Abnormality of mentalis muscle, Chin myoclonus, Intention tremor |
ORPHA:53372 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Short s... |
OMIM:610185 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia |
OMIM:619651 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
| Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
ORPHA:521406 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of ext... |
ORPHA:352596 |
| Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
| Acute Transverse Myelitis |
|
Back pain, Dissociated sensory loss, Impaired proprioception, Upper limb muscle weakness, Priapis... |
ORPHA:139417 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, L... |
ORPHA:100993 |
| Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spa... |
ORPHA:363722 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Atrophy/Degeneration affecting the brainstem, ... |
OMIM:617493 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,... |
OMIM:500003 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Abnormal... |
ORPHA:313772 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... |
OMIM:605285 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decreased m... |
OMIM:615490 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration o... |
OMIM:607596 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hand tremor, Head tremor, Lower limb muscle weak... |
OMIM:614409 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Spasticity |
OMIM:620323 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Babinski sign, Axonal degen... |
OMIM:604168 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... |
ORPHA:330050 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst... |
OMIM:620317 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... |
ORPHA:363710 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Axonal dege... |
OMIM:618138 |
| Stxbp1-Related Encephalopathy |
|
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa... |
ORPHA:599373 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Lower limb muscle weakness, Degeneration of the lateral corticospi... |
ORPHA:100989 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Denervation of ... |
OMIM:604320 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
| O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Hand muscle weakness, Tremor, Atrophy of the ... |
ORPHA:99965 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis |
ORPHA:2815 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Decreased miniature endplate potentials |
OMIM:608930 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Tetraparesis, Dystonia |
ORPHA:263410 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Apraxia, Premature ovarian insufficiency, Ataxia, Babinski sign, Leukoencepha... |
OMIM:615889 |
| Pontocerebellar Hypoplasia Type 4 |
|
Olivopontocerebellar hypoplasia, Hypoplasia of the brainstem, Hypertonia, Myoclonus, Arthrogrypos... |
ORPHA:166063 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Flexion contracture, Babinski sign, Leukoencephalopathy,... |
OMIM:611105 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Partial age... |
OMIM:615771 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Abnormal cerebral white matter ... |
ORPHA:320391 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Axonal degeneration, Lower limb muscle weakness, Foot dorsiflexor wea... |
OMIM:616155 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... |
ORPHA:314632 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary mi... |
OMIM:606777 |
| Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Cerebral atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myocl... |
OMIM:615338 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Hand muscle weakness, Sp... |
ORPHA:320355 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Peroneal muscle atrophy,... |
ORPHA:171617 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus ... |
ORPHA:2524 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... |
OMIM:619065 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Axonal dege... |
OMIM:600882 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, S... |
ORPHA:171612 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... |
ORPHA:506353 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
| Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Leukoencephalopathy, Dysmetria, Gait ataxia, Distal sensory i... |
OMIM:618387 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Abnormality... |
OMIM:614561 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr... |
ORPHA:444099 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... |
ORPHA:300573 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Parkinsonism, Abnormality of extrapyramid... |
OMIM:162350 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Diffuse leukoence... |
OMIM:169500 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... |
ORPHA:171680 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Cerebral atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agen... |
ORPHA:166024 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Chorea, Atrophy/Degeneration affect... |
ORPHA:98755 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... |
ORPHA:255182 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s... |
OMIM:252650 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Dysplast... |
OMIM:619737 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus c... |
OMIM:300067 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
| Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Fatigable weakness |
ORPHA:2593 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Difficulty walking, Paralysis |
OMIM:608634 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, Thin corpu... |
OMIM:620270 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Flexion contract... |
OMIM:618404 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Vocal c... |
ORPHA:500144 |
| Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
| Adrenomyeloneuropathy |
|
Back pain, Axonal degeneration, Dorsal column degeneration, Cerebral dysmyelination, Abnormal lib... |
ORPHA:139399 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predomi... |
OMIM:619028 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle weakness, Motor conductio... |
ORPHA:99948 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hypertonia, Congenital contracture, Myoclonu... |
OMIM:225753 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Optic atro... |
ORPHA:289560 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Clonus, Rigidity, Corpus callosum atrophy, Bab... |
OMIM:614877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra... |
OMIM:300423 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callos... |
OMIM:614833 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Abnormality of extrapyr... |
OMIM:204300 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... |
OMIM:617916 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity, Cerebral cortical atrophy |
OMIM:617065 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Babinski sign, Abnorma... |
OMIM:616680 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Atrophy... |
ORPHA:2822 |
| Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... |
OMIM:162210 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait ataxia, Progressive... |
OMIM:605259 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... |
OMIM:613647 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s... |
OMIM:607706 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Leg muscle stiffness, G... |
ORPHA:391411 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Postural tremor, Ataxia, Head titubation, Hoffmann sig... |
OMIM:615491 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... |
ORPHA:79263 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Paralysis, Distal sensory impairment, Lower-limb joint contracture, Diff... |
OMIM:613710 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Cerebral calcification, Ataxia, Isometric tremor, Upper limb postural tremor,... |
ORPHA:101110 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Eyelid myoclonus, Clumsiness... |
ORPHA:2590 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, My... |
OMIM:619971 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Facial palsy, Head titubation, Rigidity, Babinski sign, Optic atrophy, Cerebral atrophy, ... |
OMIM:608804 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... |
ORPHA:276244 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Chorea, Cerebral atrophy, Hyperkinetic movements, Myoclonu... |
OMIM:614254 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Gait ataxia, Ca... |
ORPHA:88628 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Hand tremor, Gait ataxia, Atrophy/Degeneration affecting the brainstem, Cereb... |
OMIM:617862 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, ... |
OMIM:607136 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Short stature, Ataxia, Tremor, Optic... |
ORPHA:289494 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Substantia nigra gliosis, ... |
ORPHA:276241 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Facia... |
OMIM:606703 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Lower limb muscle wea... |
ORPHA:88644 |
| Pontocerebellar Hypoplasia Type 10 |
|
Spasticity, Hypertonia, Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Facial myokymia, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls |
OMIM:616540 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... |
OMIM:609260 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula... |
OMIM:612016 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Myoclo... |
ORPHA:391417 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Un... |
OMIM:210000 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... |
ORPHA:13 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Cerebral cortic... |
OMIM:618201 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... |
OMIM:618090 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Spinocerebellar Ataxia 2 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign, Dysmetria, Li... |
OMIM:183090 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormal brainstem morphology, Ab... |
ORPHA:79279 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop... |
ORPHA:101076 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis |
ORPHA:640 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... |
ORPHA:79139 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakness, Spastic gait,... |
ORPHA:306511 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Short stature, Ataxia, Postural trem... |
OMIM:607694 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Optic atrophy, Spinal cord lesion, Spastic diplegia, Spastic dysarthria, H... |
ORPHA:401866 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Athetoid cerebr... |
OMIM:618218 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Clonus, Hypoplasia of the pons, Diffuse white matter abnormalities, Abnormal pyramidal sign, Hypo... |
ORPHA:370959 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Perineural Cyst |
|
Dyspareunia, Abnormal thoracic spine morphology, Low back pain, Somatic sensory dysfunction, Spin... |
ORPHA:65250 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Hand muscle weakness, Impaired distal proprioception, Quadriceps muscle ... |
ORPHA:101097 |
| Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Neck muscle hypertrophy, Limb tr... |
ORPHA:420492 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar a... |
ORPHA:248111 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Distal ... |
OMIM:612020 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Back pain, Low ... |
ORPHA:79093 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Frontal cortical atrophy, Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine... |
OMIM:617013 |
| Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atrophy, Cereb... |
OMIM:256730 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... |
ORPHA:101075 |
| Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Hyperkinetic movements, Paresthesia, Myoclonus,... |
ORPHA:466677 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Flexion cont... |
OMIM:616505 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration |
OMIM:162100 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Scapular winging, Hip contracture, Spinal muscular atrophy, Achilles tendo... |
OMIM:615290 |
| Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Microcephaly, Spastic tetrap... |
OMIM:605013 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Apraxia, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, ... |
ORPHA:93952 |
| Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel... |
ORPHA:268882 |
| Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:617829 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Dysmetri... |
OMIM:617954 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Di... |
ORPHA:478029 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dystonia, ... |
ORPHA:357058 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra... |
OMIM:213600 |
| Familial Congenital Mirror Movements |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Clumsiness, Poor fine motor coordination, Fused ce... |
ORPHA:238722 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai... |
ORPHA:251282 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... |
ORPHA:909 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of neck muscles, Decreased miniatur... |
ORPHA:98913 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebellar vermis hypoplasia, Cerebral palsy, Microcephaly, Dysplastic c... |
OMIM:620001 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Simplified gyral pa... |
OMIM:613153 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Babinski sign, Optic atrophy, Flexion contracture, Ragged-red muscle fibers, Le... |
OMIM:252011 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Broad-bas... |
OMIM:614895 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Babinski sign, Abnormal pyramidal sign, Intrinsic hand muscle atrophy, Cl... |
OMIM:616688 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign,... |
OMIM:109150 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology, Myoclonus |
ORPHA:2382 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
| Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness |
OMIM:614198 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Hyperekplexia 4 |
|
Flexion contracture, Cerebral atrophy, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly |
OMIM:618011 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... |
ORPHA:329478 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Midline brainstem ... |
OMIM:617542 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Scoliosi... |
ORPHA:306669 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Short stature, Ataxia, Tremor, Optic atrophy, ... |
OMIM:614381 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
| Gangliocytoma |
|
Decreased female libido, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spinal co... |
ORPHA:251937 |
| Manganese Poisoning |
|
Decreased female libido, Postural tremor, Akinesia, Abnormal globus pallidus morphology, Cogwheel... |
ORPHA:306682 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Posterior atrophy of corpus callosum, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth del... |
OMIM:619422 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
| Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno... |
ORPHA:309162 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babin... |
OMIM:617282 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Parkinsonism, Increased extraneuronal autofluores... |
OMIM:204200 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Flexion contracture... |
OMIM:275900 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Atr... |
ORPHA:445062 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus, Global brain atrophy |
OMIM:609056 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
| Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia |
OMIM:300857 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Short stature, Ataxia, Po... |
ORPHA:1170 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Ky... |
ORPHA:101078 |
| Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Cerebel... |
OMIM:616900 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Progressive cere... |
ORPHA:263516 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor... |
OMIM:616719 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Short stature, Tremor, Cryptorchidism, Cortical dysplasia, Kyphosis... |
OMIM:300354 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of ... |
ORPHA:255138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Choreoathetosis, Myoclonus, Frequent falls |
OMIM:301020 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Short stature... |
OMIM:312080 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab... |
ORPHA:139396 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy, Fasciculations, A... |
ORPHA:206546 |
| Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Erectile dysfunction, Testicular ... |
ORPHA:481 |
| Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Abnormal pons morphology, Fatigable... |
ORPHA:1320 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Short neck, Tre... |
OMIM:615673 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli... |
ORPHA:300570 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic gait, Prog... |
ORPHA:320365 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Abnormal cerebellum morpholog... |
OMIM:211530 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Short stature, Tremor, Increased variability in m... |
ORPHA:502423 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, Apraxia, Abnormal upper... |
OMIM:221770 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Hyperlordosis, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Aplasia/Hypop... |
ORPHA:1192 |
| Mepan Syndrome |
|
Axial dystonia, Limb dystonia, Cerebellar atrophy, Ataxia, Hemidystonia, Chorea, Optic atrophy, C... |
ORPHA:508093 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Corpus callosum atrophy, Atrophy/Deg... |
ORPHA:228360 |
| Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus, Cerebral atrophy |
OMIM:612015 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
| Gómez-López-Hernández Syndrome |
|
Ataxia, Abnormal brainstem morphology |
ORPHA:1532 |
| Arachnoid Cyst |
|
Facial palsy, Spinal cord compression, Paraparesis, Spinal arachnoid cyst, Cranial nerve compress... |
ORPHA:2356 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoa... |
OMIM:612438 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dyston... |
ORPHA:251347 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus, Dystonia, Neuronal loss in central nervous system, Cerebral c... |
OMIM:600795 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... |
OMIM:128100 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Dys... |
OMIM:607822 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p... |
ORPHA:280195 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia... |
OMIM:238970 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia |
ORPHA:725 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Growth delay, Cerebellar hypoplasia, Scoliosis, Intrauterine growth... |
ORPHA:238750 |
| Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Bab... |
ORPHA:157846 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis, Brain stem compression |
OMIM:602080 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Cerebral atrophy, Gait ataxia, C... |
OMIM:618877 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter |
OMIM:617235 |
| Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Speech apraxia, Abnormal medulla oblongata morphology, Incoor... |
ORPHA:297 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... |
OMIM:617710 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Delayed periphe... |
ORPHA:464282 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Short neck, Tremor, Flexion contracture, Choreoathetosis, Male hypogonadism, Wrist flexion contra... |
OMIM:300055 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tib... |
ORPHA:320375 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Hand tremor, Gait ataxia, Hea... |
ORPHA:101085 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy |
ORPHA:276183 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
| Rabies |
|
Vocal cord paresis, Cerebral palsy, Paresthesia |
ORPHA:770 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Hypoesthesia, Vocal cord paralys... |
OMIM:162500 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impotence, Positiv... |
OMIM:105210 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... |
ORPHA:391428 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Cerebral white matter atrophy, Limb joint contracture, Camptodactyly of finge... |
ORPHA:356961 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Fasciculations,... |
ORPHA:209335 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, Cerebral atrophy, Hypoplasia of the brainstem, Hyperkinet... |
OMIM:616420 |
| Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Cerebral atrophy |
OMIM:618374 |
| Sickle Cell Disease |
|
Priapism |
OMIM:603903 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... |
OMIM:218000 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations |
ORPHA:84142 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
| Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Kyphoscoliosis, Camptodactyly, Molar tooth sign on MRI, Intrauteri... |
OMIM:614815 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Tremor, Myoclonus, Limb muscle ... |
ORPHA:97229 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:102 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Trunc... |
ORPHA:369847 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Ataxia, Head titubation, Abnormal brainstem morphology, Oculomotor apraxia, Elongated superior ce... |
ORPHA:370022 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ... |
OMIM:619518 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait dis... |
ORPHA:220497 |
| Narp Syndrome |
|
Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, M... |
ORPHA:644 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... |
ORPHA:77299 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyramidal m... |
ORPHA:204 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Scissor gait, Axonal degeneration, Optic atrophy, Cerebral atrophy, Choreo... |
OMIM:278800 |
| Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th... |
ORPHA:3327 |
| Spinocerebellar Ataxia 1 |
|
Optic disc pallor, Skeletal muscle atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Limb... |
OMIM:164400 |
| Foxg1 Syndrome |
|
Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity |
ORPHA:561854 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Abnormality of extrapyramidal motor function, Myoclonus,... |
OMIM:604218 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Abnormal pyramidal sign, Spastic paraparesis, J... |
OMIM:260600 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign... |
OMIM:616267 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait dis... |
ORPHA:220493 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... |
ORPHA:227510 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia |
OMIM:620358 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Dystonia, Microcephaly, Tremor, Kyphosis, Globus palli... |
OMIM:617988 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Cerebral atrophy, Tongue fa... |
OMIM:618065 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Cerebellar vermis hypoplasia, Agenesis of corpus cal... |
OMIM:619111 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Babinski sign, Myoclonus, Apraxia, Cerebral cortical atrophy |
OMIM:618193 |
| Superficial Siderosis |
|
Back pain, Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait a... |
ORPHA:247245 |
| Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki... |
ORPHA:171695 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:98933 |
| Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Tongue fascicu... |
ORPHA:544469 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Optic atrophy, Myoclonus, Cerebral atrophy |
OMIM:619057 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Tremor, Abnormal pyramidal tract morphology, Babinski si... |
ORPHA:83629 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Peripheral... |
ORPHA:171629 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis |
OMIM:619099 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
| Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis, Facial diplegi... |
OMIM:617302 |
| Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Myoclonus, Generalized amyotrophy |
OMIM:609241 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Basal ganglia cysts, Choreoathetosis, Myoclonus, Dystonia... |
OMIM:312170 |
| Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI |
OMIM:616781 |
| Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations |
ORPHA:641 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li... |
ORPHA:3095 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cerebellar vermis hypoplasia, Short stature, Microcephaly, Tremor, Abnormal cerebellum morphology... |
OMIM:300957 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Microcephaly, Tremor, Inability to walk, Optic atrophy, Spast... |
OMIM:617664 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
| Developmental And Epileptic Encephalopathy 1 |
|
Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dystonia, Global brai... |
OMIM:308350 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Fasciculations |
OMIM:610717 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired... |
OMIM:606002 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Neuropathic spinal arthropathy, Fr... |
ORPHA:99949 |
| Meckel Syndrome 13 |
|
Oculomotor apraxia, Flexion contracture, Ataxia, Molar tooth sign on MRI |
OMIM:617562 |
| Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Oromotor apraxia, Flexion contracture, Spastic tetraplegia, D... |
ORPHA:98889 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cereb... |
OMIM:614969 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
| Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
| Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Brain atrophy, Spasticity |
ORPHA:333 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia |
OMIM:271980 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Optic atrophy, Cere... |
ORPHA:442835 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Cog8-Cdg |
|
Cerebellar atrophy, Chronic axonal neuropathy, Skeletal muscle atrophy, Ataxia, Myoclonus, Atroph... |
ORPHA:95428 |
| Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy... |
ORPHA:399 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:620094 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Cerebral cortical atrophy, Cerebral atrophy, Hyperkinetic movements |
OMIM:236270 |
| Synaptic Congenital Myasthenic Syndromes |
|
Abnormal synaptic transmission at the neuromuscular junction, Unfavorable response of muscle weak... |
ORPHA:98915 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensatio... |
OMIM:619574 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Optic atrophy, Athetosis, Myoclonus |
OMIM:618241 |
| Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, Microcephaly, Postnatal growth retardation, Cryptorchidism, Short neck, Ky... |
OMIM:248700 |
| Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Myoclonus, Intention tremor |
OMIM:610539 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the cervical spine, Thoracic scoliosis, Lower limb spasticity, Short stature, Abno... |
ORPHA:314621 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebral calcification, Cerebellar vermis hypoplasia, Facial-lingua... |
OMIM:617281 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, L... |
ORPHA:3208 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610090 |
| Kallmann Syndrome |
|
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ... |
ORPHA:478 |
| Even-Plus Syndrome |
|
Severe short stature, Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft v... |
OMIM:616854 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, ... |
OMIM:618356 |
| Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s... |
OMIM:184850 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis |
OMIM:618721 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H... |
OMIM:620089 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abno... |
ORPHA:447753 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Cerebral atrophy, Athetosis, Facial diplegia, Hyperkinetic movements, Dy... |
OMIM:612073 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
| 20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
| Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Spinal cord compression, Atrophy of the spinal cord, Progressive spastic parapa... |
ORPHA:35125 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus |
OMIM:617507 |
| Joubert Syndrome 3 |
|
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Lateral ventric... |
OMIM:608629 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired ... |
OMIM:268800 |
| Joubert Syndrome 4 |
|
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Elongated supe... |
OMIM:609583 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Impotence, Ischemic stroke |
OMIM:615750 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
| Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo... |
OMIM:615574 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Short stature, Microcephaly, Corpus callosum atrophy, Tremor, Babinski s... |
OMIM:616586 |
| Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
| Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia |
OMIM:613612 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Flexion contracture, Fasciculations |
OMIM:601003 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia |
OMIM:618810 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Oculomotor apraxia, Temporal cortical atrophy, Hypoplasia of the c... |
OMIM:615665 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Clum... |
ORPHA:98768 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... |
OMIM:606071 |
| Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Myoclonic spasms, Joint contracture, ... |
OMIM:614498 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Microcephaly, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturba... |
ORPHA:457240 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Microcephaly, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia |
OMIM:619556 |
| Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... |
ORPHA:99956 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Clumsiness, Facial diplegia, Fasciculations, Frequent falls, Low... |
ORPHA:521411 |
| Joubert Syndrome 32 |
|
Ataxia, Abnormal cerebellum morphology, Oculomotor apraxia, Molar tooth sign on MRI, Polymicrogyria |
OMIM:617757 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthotonus, Choreoat... |
OMIM:616271 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus, Brain atrophy |
OMIM:618225 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Microcephaly,... |
OMIM:615356 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Growth delay, Li... |
OMIM:617675 |
| Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Short stature, Lumbar hyperlordosis, Cryptorchidism, Oculomotor apr... |
OMIM:619185 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
| Prolactinoma |
|
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
| Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia |
OMIM:250620 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... |
ORPHA:845 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Microcephaly, Spinal rigidity, Partial absence of cerebellar vermis, Skelet... |
OMIM:613150 |
| Tubulinopathy-Associated Dysgyria |
|
Oculomotor apraxia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus, Brain atrophy |
OMIM:617290 |
| Developmental And Epileptic Encephalopathy 23 |
|
Hypoplasia of the pons, Myoclonus |
OMIM:615859 |
| Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Spasticity, Myoclonus, Gait ataxia |
OMIM:620145 |
| Progressive Supranuclear Palsy |
|
Abnormal synaptic transmission |
ORPHA:683 |
| Al-Gazali-Bakalinova Syndrome |
|
Short neck, Hypoplasia of the corpus callosum, Brain atrophy, Molar tooth sign on MRI, Agenesis o... |
OMIM:607131 |
| Igg4-Related Pachymeningitis |
|
Spinal cord compression, Paraparesis, Lower limb muscle weakness, Abnormal spinal dura mater morp... |
ORPHA:449427 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Cavitation of the basal ganglia, Writer's cramp, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, ... |
OMIM:606159 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Chorea, Cerebral atrophy, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Ce... |
OMIM:616672 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Spastic paraparesis, Distal l... |
OMIM:500013 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Hypoplasia of the pons, Optic atrophy, Myoclonus, Dystonia, Cerebral cor... |
OMIM:617669 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
| Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Abnormal autonomic nervous s... |
ORPHA:2828 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Spinal cord tumor, Fasciculat... |
ORPHA:93921 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Attrv30M Amyloidosis |
|
Impotence, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrop... |
ORPHA:1020 |
| Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
| Glioblastoma |
|
Abnormal cerebral white matter morphology, Paralysis, Cerebral edema, Abnormal corpus callosum mo... |
ORPHA:360 |
| Hemochromatosis, Type 3 |
|
Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Cerebral atrophy, Tetraple... |
ORPHA:2396 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Bilateral cryptorchidism, Dysplastic corpus callosum, Periventricular cysts, Thick... |
ORPHA:544488 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Cerebral white matter atrophy, Torticollis, Ataxia, Tremor, Myelopathy, Rigidit... |
OMIM:617186 |
| Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Hy... |
ORPHA:314679 |
| Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Intrauterine growth retardation, Cryptorchidism |
OMIM:620135 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hyper... |
OMIM:619847 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Kyphoscolio... |
ORPHA:3077 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... |
ORPHA:261529 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... |
OMIM:601152 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Op... |
OMIM:615851 |
| Microcephaly, Amish Type |
|
Flexion contracture, Optic atrophy, Myoclonus, Limb hypertonia |
OMIM:607196 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus |
ORPHA:99802 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Oculomotor apraxia, Hypoplasia of the brainstem, Scoliosis, Molar to... |
OMIM:611560 |
| Alexander Disease |
|
Cerebral calcification, Ataxia, Facial palsy, Clonus, Megalencephaly, Aqueductal stenosis, Short ... |
ORPHA:58 |
| Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
| Meningioma |
|
Back pain, Papilledema, Hemifacial spasm, Abnormal central motor function, Hypogonadotropic hypog... |
ORPHA:2495 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
| Leigh Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary mov... |
ORPHA:506 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Short stature, Microcephaly, Flexion contracture,... |
OMIM:618891 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Impotence, Hypogonadism |
ORPHA:79230 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tr... |
ORPHA:812 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbra... |
ORPHA:68 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasti... |
OMIM:612716 |
| Pituicytoma |
|
Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea |
ORPHA:251623 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Gait ataxia, Opisthotonus, Myoclon... |
OMIM:103050 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Paraplegia |
ORPHA:79124 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyral p... |
OMIM:619179 |
| Whipple Disease |
|
Myositis, Ataxia, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction |
ORPHA:3452 |
| Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Hypertonia, Camptodactyly |
OMIM:604273 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Growth delay, Limb hypertonia,... |
ORPHA:70594 |
| Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
| Oculoskeletodental Syndrome |
|
Short stature, Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal whi... |
ORPHA:557003 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Short neck, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Short stature, Dysplastic corpus callosum, Secondary microcephaly, Generalized amyotrophy, Spasti... |
OMIM:619423 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus, C... |
ORPHA:485350 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene... |
OMIM:619103 |
| Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... |
ORPHA:91347 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Hyperkinetic movements,... |
OMIM:300243 |
| Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Spastic paraparesis |
OMIM:270200 |
| Hemochromatosis, Type 4 |
|
Impotence |
OMIM:606069 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
| Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Chiari type I malformation, Abnorma... |
ORPHA:221098 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Rag... |
OMIM:607426 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Myoclonus, Opisthotonus |
OMIM:619814 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Infertility, Erectile dysfunction, Testicul... |
ORPHA:465508 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dystonia, Global brain atrophy |
OMIM:168601 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyr... |
ORPHA:51188 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Mi... |
ORPHA:2232 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Scapular winging, Ataxia, Centrally nuclea... |
OMIM:607459 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... |
ORPHA:397744 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Cerebellar vermis hypoplasia, Short stature, Absent septum pellu... |
ORPHA:397715 |
| Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Abnormal form of the vertebr... |
ORPHA:475 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasciculations, Up... |
ORPHA:275864 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... |
ORPHA:99750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Ataxia, Micro... |
OMIM:300998 |
| Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Abnormal m... |
ORPHA:444072 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Myoclonus |
ORPHA:411986 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar vermis hypoplasia, Short neck, Tremor, Prominent protruding coccyx, Abnormal septum pe... |
OMIM:300966 |
| 12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Short stature, Microcephaly, Tremor, Chiari malformation, Syringomyelia,... |
ORPHA:94063 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Dysplastic corpus callosum, Ragged-red muscle fibers, Babinski sign, Leukoe... |
OMIM:614924 |
| Poems Syndrome |
|
Papilledema, Hypogonadism, Paresthesia, Erectile dysfunction, Hyperesthesia, Sclerotic vertebral ... |
ORPHA:2905 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ... |
OMIM:168600 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Spastic tetraparesis, Knee flexion contracture... |
ORPHA:284417 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Limb myoclonus, Abnormality of extrapyramidal motor function, Lower limb muscle weakness, Gait at... |
ORPHA:356 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Brain atro... |
ORPHA:395 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal cerebral white matter morphology, Abnormal autonomic nervous system physiology, Cerebral... |
ORPHA:83601 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Involuntary movements, Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum, Spas... |
OMIM:618325 |
| Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Cryptorchidism, Kypho... |
OMIM:300967 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Sho... |
OMIM:206900 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Impotence, Oligomenorrhea |
ORPHA:91354 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cerebral ... |
ORPHA:445038 |
| Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Tetraparesis, Joint contracture of the 5th finger, Spasticity |
OMIM:164200 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements |
ORPHA:289522 |
| D-Glyceric Aciduria |
|
Chorea, Brain atrophy, Myoclonus, Spasticity |
ORPHA:941 |
| Hydrolethalus Syndrome 2 |
|
Anencephaly, Agenesis of corpus callosum, Molar tooth sign on MRI |
OMIM:614120 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Flexion contracture, Cerebral atrophy, Hyperkinetic movements, Hypertonia, Te... |
OMIM:619124 |
| Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C... |
ORPHA:48818 |
| Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Macroglossia, Myoclonus, Oromandibula... |
ORPHA:412217 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi... |
OMIM:615287 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Hypertonia, Myoclonus |
ORPHA:289266 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... |
ORPHA:91348 |
| Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
| Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Bilateral cryptorchidism, Tremor, Aplasia/Hy... |
ORPHA:2754 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, ... |
ORPHA:496641 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal loss in central... |
OMIM:260565 |
| Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal central motor function, P... |
ORPHA:3385 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cerebral cortical atrophy, Myoclonus, Spasticity |
ORPHA:309155 |
| Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea |
OMIM:235200 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Babinski sign, Cerebral atrophy, Gait ataxia, Atrophy/Degeneration affecting ... |
OMIM:616192 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Premature ovarian ins... |
OMIM:212065 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619060 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness |
OMIM:159400 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode... |
OMIM:618321 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Hand tremor, Dysmetria, Flexion contracture of digit, Spastic paraparesis |
ORPHA:3041 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis, Microcephaly |
ORPHA:2375 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Optic atrophy, Opisthotonus, Myoclonus, B... |
OMIM:620352 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Hypoplasia of... |
OMIM:610688 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
| 47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Cryptorchidism, Abnormal brainstem morphology, Oligozoospermia,... |
ORPHA:8 |
| Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Abnormal brainstem morphology |
ORPHA:231160 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Contractures of the large joints, Hypertonia, Myoclonus, Brain atrophy, Spasticity |
ORPHA:3078 |
| Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Paraparesis, Spinal cord tumor, Syringomyelia, Hydromyelia,... |
ORPHA:573278 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Myoclonus, Global brain atrophy |
ORPHA:79096 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonus, Atrophy/Degeneration a... |
OMIM:614946 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Gr... |
ORPHA:2072 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... |
ORPHA:79102 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus, Cerebral atrophy |
OMIM:614462 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Microcephaly, Un... |
OMIM:301030 |
| Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Babinski sign, Slurred speech, Spastic dysarthria, Ankle... |
ORPHA:101000 |
| Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Scoliosis, Peri... |
ORPHA:37553 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Gait ataxia, Atrophy/Degeneration involving the spinal cord, Myoclonus,... |
ORPHA:70595 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Acute Disseminated Encephalomyelitis |
|
Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensity, Abnormal spinal cord morp... |
ORPHA:83597 |
| Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
| Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Hypertonia, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:612291 |
| Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Periv... |
ORPHA:3008 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
| Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Myoclonus, Cerebral atrophy |
OMIM:619609 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Short stature, Ataxia, Microcephaly, Inability to walk... |
OMIM:617799 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Optic atrophy, Spastic diplegia, Opisthotonus, A... |
ORPHA:206436 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myoclonus, Spasticity, Cerebral cortic... |
OMIM:220120 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Left ventricular noncompaction, Myoclonus, Dystonia, Left ventricular ... |
OMIM:619167 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral ... |
ORPHA:17 |
| Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus |
ORPHA:352582 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Short stature, Delayed puberty |
OMIM:614963 |
| Zttk Syndrome |
|
Short stature, Dysplastic corpus callosum, Kyphosis, Flexion contracture, Optic atrophy, Hemivert... |
OMIM:617140 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short stature, Microcephaly, Periodic paralysis, Scoliosis, Periodic hypokalemi... |
OMIM:170390 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2 hypointense basal ganglia, A... |
ORPHA:25 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Bilateral cryptorchidism, Dysplastic corpus callosum, Cry... |
ORPHA:466791 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Limb joint contracture, Chorea, Achilles... |
ORPHA:404454 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Cryptorchidis... |
OMIM:618820 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Cryptorchidism, Elbow flexion contractur... |
OMIM:151050 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
| Norrie Disease |
|
Clonus, Microcephaly, Cryptorchidism, Optic atrophy, Hypertonia, Erectile dysfunction, Delayed pu... |
ORPHA:649 |
| Microcephaly-Capillary Malformation Syndrome |
|
Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Myoclonus, Right ventricular hypertrophy |
OMIM:614261 |
| Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:94080 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Weakness of facial musculature, Abnormal... |
ORPHA:273 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Ataxia, Brainstem dysplasia, Optic disc coloboma, Macrogloss... |
OMIM:213300 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle... |
ORPHA:468631 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| Gitelman Syndrome |
|
Ataxia, Paralysis, Rhabdomyolysis, Growth delay, Paresthesia, Delayed puberty |
OMIM:263800 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ataxia, Arthrogryposis-like hand anomaly, Macroglossia, Spastic paraparesis, Camp... |
ORPHA:369891 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Foot joint contracture, Ataxia, Postn... |
ORPHA:90321 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Distal amyotrophy, Peripheral hypomye... |
OMIM:609136 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Abnormal brainstem morphology |
ORPHA:163961 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas... |
OMIM:612949 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Cerebral atrophy, Myoclonus, Spasticity, Cor... |
ORPHA:168491 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ... |
OMIM:234200 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Hand apraxia, Babinski sign, Lower limb spasticity, Spastic paraparesis |
ORPHA:280229 |
| Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Somatic sensory dysfunction, Abnormality of t... |
ORPHA:330015 |
| Neuroblastoma, Susceptibility To, 1 |
|
Spinal cord compression, Ataxia, Myoclonus, Ganglioneuroma |
OMIM:256700 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
| Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus |
ORPHA:43116 |
| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Impotence, Distal sensory impairment |
OMIM:608088 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Adenohypophysitis |
|
Orthostatic hypotension, Decreased female libido, Impotence, Decreased male libido, Amenorrhea |
ORPHA:95512 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Aplasia/Hy... |
ORPHA:1454 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Achilles tendon contracture, Babinski sign, Opisthotonus, K... |
OMIM:618076 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
| Pure Autonomic Failure |
|
Impotence, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria, Short neck |
ORPHA:2328 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Tethered cord, Short stature, Cryptorchidism, Oculomotor apraxia, Lower limb hypertonia, Chordee,... |
OMIM:616728 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Premature ovarian insufficiency, Endometriosis, Camptodactyly |
ORPHA:363444 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Intrinsic hand muscle atrophy, Hypoplasia of the corpus... |
OMIM:618569 |
| Panhypophysitis |
|
Orthostatic hypotension, Decreased female libido, Impotence, Decreased male libido, Amenorrhea |
ORPHA:95513 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Ataxia, Limb joint contracture, Bab... |
OMIM:301072 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clonus, Cryptorchidism, Oculomotor apraxia, Colpocephaly, Chordee, Lower limb hypertonia, Hypopla... |
ORPHA:477993 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
| Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
| Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
| Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Spasticity |
ORPHA:93399 |
| Fatal Familial Insomnia |
|
Neuronal loss in central nervous system, Ataxia, Myoclonus |
OMIM:600072 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... |
ORPHA:309854 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Cerebral calcification, Short stature, Ataxia, Postnatal growth retardation, Tremor, Optic atroph... |
OMIM:612199 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypoplasia of the brainstem, Spastic paraparesis |
ORPHA:391408 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Short stature, Ataxia, Abnormal auditory evoked potentials, ... |
OMIM:216400 |
| Eales Disease |
|
Myelopathy, Optic disc pallor, Spastic paraparesis |
ORPHA:40923 |
| Joubert Syndrome 2 |
|
Ataxia, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brainstem, Oculomotor apraxia... |
OMIM:608091 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Cerebral atrophy, Dystonia |
OMIM:620167 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Progressive flexion contractures, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiba... |
ORPHA:522077 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypertonia, Ataxia, Abnormal brainstem morphology |
ORPHA:2720 |
| Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Peripheral schwannoma, Spinal cord tum... |
ORPHA:637 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Sheehan Syndrome |
|
Dyspareunia, Orthostatic hypotension, Decreased female libido, Impotence, Oligomenorrhea, Amenorrhea |
ORPHA:91355 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Short stature, Microcephaly, Spinal dysraphism, Unilateral ... |
OMIM:617660 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Babinski sign, Myoclonus, Spasticity, Abnormality of muscle size |
ORPHA:364028 |
| Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor... |
ORPHA:646 |
| Pituitary Apoplexy |
|
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Abnormal caudate nucleus morphology |
ORPHA:95613 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Cerebral cortical atrophy, Tongue fasciculations, Myoclonus |
OMIM:614922 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements |
ORPHA:525731 |
| Ataxia-Telangiectasia |
|
Dystonia, Female hypogonadism, Short stature, Ataxia, Microcephaly, Tremor, Inability to walk, Sl... |
OMIM:208900 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Gait ataxia, Myoclonus, Intention tremor, Action tremor |
OMIM:254900 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Myoclonus |
OMIM:617600 |
| Rheumatic Fever |
|
Hemiballismus, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Fasciculations |
ORPHA:3099 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
| Argininemia |
|
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... |
OMIM:207800 |
| Somatomammotropinoma |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Mac... |
ORPHA:314769 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, Inability to walk, Flexio... |
ORPHA:86309 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Microcephaly |
OMIM:150260 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Multiple joint contractures, Tremor, Hemiplegia/hemip... |
ORPHA:51 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Periventricular leukomalacia, Lumbar hyperlordosis, Optic nerve hypoplasia, Proportionate short s... |
ORPHA:500150 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
| Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Oculomotor apraxia, Arthrogryposis ... |
OMIM:617822 |
| Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Involuntary movements, Chorea, Dysmetria, Intrinsic hand muscle atrophy, Atheto... |
OMIM:615273 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Myoclonus |
OMIM:616158 |
| Acromegaly |
|
Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Mac... |
ORPHA:963 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Sialuria |
|
Hyperkinetic movements |
ORPHA:3166 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Tremor, Kyphosis, Unsteady gait, Cerebral atrophy, My... |
OMIM:615512 |
| Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
| Craniopharyngioma |
|
Papilledema, Cerebral calcification, Hypogonadotropic hypogonadism, Proportionate short stature, ... |
ORPHA:54595 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Low back pain, Retrograde ejaculation, Impotence |
ORPHA:49041 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, H... |
ORPHA:284339 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akin... |
OMIM:601104 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Myoclonus |
ORPHA:168593 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Codas Syndrome |
|
Short stature, Cryptorchidism, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumba... |
OMIM:600373 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
| Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Kyphoscoliosis, Short neck, Vocal c... |
ORPHA:798 |
| Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Myoclonus, Dy... |
ORPHA:209905 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Fle... |
ORPHA:258 |
| Pudendal Neuralgia |
|
Back pain, Dyspareunia, Somatic sensory dysfunction, Impotence, Paresthesia |
ORPHA:60039 |
| Scheie Syndrome |
|
Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Chiari type I malformation, Hypoplastic vertebral bodies, Hypertonia, Agenesis of corpus ... |
ORPHA:3455 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Short neck, Partial agenesis of... |
ORPHA:434179 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Tremor, Diffuse white matter abnormal... |
ORPHA:1934 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Left ventricular hypertrophy, Right ventricular hypertrophy |
ORPHA:444013 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Upper limb spasticity, Myoclonus, Spasticity, Global brain... |
OMIM:619229 |
| Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Ragged-red muscle fibers, ... |
ORPHA:550 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Cerebral calcification, Short stature, Basal ganglia calcification,... |
OMIM:259730 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Partial agenesis of the corpus callos... |
OMIM:615948 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus |
OMIM:560000 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:276621 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Abnormal cerebral white matter morphology, Dis... |
OMIM:164310 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Abnormal... |
ORPHA:581 |
| Gitelman Syndrome |
|
Cerebral calcification, Paralysis, Rhabdomyolysis, Paresthesia, Delayed puberty |
ORPHA:358 |
| Friedreich Ataxia 2 |
|
Abnormality of the dorsal column of the spinal cord, Ataxia, Incoordination, Abnormal medulla obl... |
OMIM:601992 |
| Distal Renal Tubular Acidosis |
|
Growth delay, Short stature, Paralysis |
ORPHA:18 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Myoclonus |
ORPHA:98794 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Short stature, Female infertility, Short neck, Postnatal growth ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Short stature, Female infertility, Short neck, Postnatal growth ... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Short stature, Female infertility, Short neck, Postnatal growth ... |
ORPHA:99226 |
| Angelman Syndrome |
|
Optic disc pallor, Ataxia, Tremor, Optic atrophy, Myoclonus, Cerebral cortical atrophy |
ORPHA:72 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Short neck, Postnatal growth ... |
ORPHA:881 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Myoclonus, Brain atrophy |
ORPHA:314655 |
| Say-Barber-Miller Syndrome |
|
Babinski sign, Optic atrophy, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, ... |
ORPHA:3132 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Hypertonia, Myoclonus, Spasticity, Global brain atr... |
OMIM:618426 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
| Degcags Syndrome |
|
Sacral dimple, Microcephaly, Cryptorchidism, Vocal cord paralysis, Chordee, Diaphragmatic eventra... |
OMIM:619488 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Bilateral camptodactyly, Elbow flexion contracture, Cerebral atrophy, Gait ataxia, Choreo... |
OMIM:619777 |
| Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus |
ORPHA:2752 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Tremor, Partial agenesis of the cor... |
OMIM:220111 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Spastic paraparesis |
OMIM:619234 |
| Familial Cerebral Cavernous Malformation |
|
Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesion, Spinal cord lesion... |
ORPHA:221061 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis |
ORPHA:29072 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Cerebral palsy, Myoclonus, Dystonia, Hemiplegia, Lower limb muscle weakness, Globa... |
OMIM:616973 |
| 9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Chiari type I malformatio... |
ORPHA:261537 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Myoclonus, Brain atrophy |
ORPHA:251004 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
| Pineoblastoma |
|
Papilledema, Midline brain calcifications, Paralysis |
ORPHA:251909 |
| Listeriosis |
|
Ataxia, Tremor, Abnormal brainstem MRI signal intensity, Rhabdomyolysis, Hemiparesis, Myoclonus |
ORPHA:533 |
| Oculodentodigital Dysplasia |
|
Ataxia, Camptodactyly of finger, Optic atrophy, Spastic paraparesis, Spasticity |
ORPHA:2710 |
| Hurler Syndrome |
|
Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Macroglossia, Spastic paraparesis |
ORPHA:93473 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ankle flexion contracture, Abnormal brainstem morphology, Flexion contracture ... |
ORPHA:464311 |
| Fabry Disease |
|
Left ventricular hypertrophy, Fasciculations |
OMIM:301500 |
| Immunodeficiency 23 |
|
Ataxia, Myoclonus, Cortical myoclonus |
OMIM:615816 |
| Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Decreased male libido, Impotence, Amenorrhea |
ORPHA:652 |
| Lambert-Eaton Myasthenic Syndrome |
|
Impotence, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic... |
ORPHA:43393 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Congenital contracture, Kinke... |
OMIM:236670 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Oculomotor apraxia, Ataxia, Myoclonus |
ORPHA:247262 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
| Alobar Holoprosencephaly |
|
Abnormal central motor function, Oromotor apraxia, Abnormal brainstem morphology, Flexion contrac... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Oromotor apraxia, Abnormal brainstem morphology, Flexion contrac... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal central motor function, Oromotor apraxia, Abnormal brainstem morphology, Flexion contrac... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Abnormal central motor function, Oromotor apraxia, Abnormal brainstem morphology, Flexion contrac... |
ORPHA:220386 |
| Witteveen-Kolk Syndrome |
|
Unilateral cryptorchidism, Short stature, Congenital diaphragmatic hernia, Microcephaly, Poor mot... |
OMIM:613406 |
| Arima Syndrome |
|
Ataxia, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:243910 |
| Tyrosinemia, Type I |
|
Growth delay, Periodic paralysis |
OMIM:276700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Clonus, Myoclonus |
OMIM:619055 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty |
ORPHA:99429 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis, Optic atrophy, Flexion contracture of the 2nd finger, Joint cont... |
ORPHA:324540 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
| Nmda Receptor Encephalitis |
|
Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... |
ORPHA:217253 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
| Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Brain atrophy, Myoclonus, Tetraplegia, Dystonia |
OMIM:618278 |
| Esophageal Atresia |
|
Growth delay, Hypertonia, Scoliosis, Vocal cord paresis, Abnormal vertebral morphology |
ORPHA:1199 |
| Lafora Disease |
|
Ataxia, Myoclonus, Brain atrophy, Erratic myoclonus, Spasticity |
ORPHA:501 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Slurred speech, Ataxia, Myoclonus |
ORPHA:31826 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis... |
ORPHA:1772 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
| Williams-Beuren Syndrome |
|
Incoordination, Short stature, Kyphoscoliosis, Flexion contracture, Vocal cord paralysis, Poor co... |
OMIM:194050 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Microcephaly, Cryptorchidism |
OMIM:227650 |
| White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
| Kinsship Syndrome |
|
Brain atrophy, Myoclonus, Spastic tetraparesis |
OMIM:619297 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Hypoplasia of the brainstem, Myoclonus, Muscular dystrophy, Spasticity |
OMIM:253280 |
| Pgm3-Cdg |
|
Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
| Developmental And Epileptic Encephalopathy 2 |
|
Myoclonus |
OMIM:300672 |
| Lathosterolosis |
|
Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
| X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Involuntary movements, Myoclonus, Camptodactyly |
ORPHA:3063 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Cystinosis, Nephropathic |
|
Male infertility, Skeletal muscle atrophy, Cerebral calcification, Short stature, Cerebral atroph... |
OMIM:219800 |
| Exstrophy-Epispadias Complex |
|
Spina bifida, Microcephaly, Cryptorchidism, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:322 |
| Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
| Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Impaired pain sensation, Abnormal autonomic nervous ... |
ORPHA:293987 |
| Myoclonic Epilepsy Of Lafora |
|
Myoclonus, Apraxia |
OMIM:254780 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Osteogenesis Imperfecta |
|
Ataxia, Flexion contracture, Brain stem compression, Syringomyelia, Tetraparesis |
ORPHA:666 |
| Feingold Syndrome 1 |
|
Vocal cord paralysis, Microcephaly |
OMIM:164280 |
| Limb Body Wall Complex |
|
Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal cord morphology, ... |
ORPHA:2369 |
| Noonan Syndrome 1 |
|
Male infertility, Short stature, Kyphoscoliosis, Short neck, Postnatal growth retardation, Crypto... |
OMIM:163950 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology, Chorea, Myositis |
ORPHA:289390 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence |
ORPHA:447 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Involuntary movements, Myoclonus, Dystonia |
ORPHA:438213 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contracture, Contractur... |
OMIM:300166 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Tetrasomy 9P |
|
Abnormal spinal cord morphology, Myositis |
ORPHA:3310 |
| Doors Syndrome |
|
Spina bifida occulta, Optic atrophy, Myoclonus |
ORPHA:79500 |
| Crimean-Congo Hemorrhagic Fever |
|
Fasciculations |
ORPHA:99827 |
