Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:3319 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive |
OMIM:618201 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Seizure, Increa... |
OMIM:119540 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Clonus, Hypertonia,... |
OMIM:616881 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Rigidity, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hypotonia, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Rigidity, Tremor, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Short stature, Chorea, Spastic tetraplegia, Hypertonia, Neonatal hy... |
OMIM:617864 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia, Hypotonia, Generalized hypotonia |
OMIM:272800 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Lim... |
OMIM:608643 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Ataxia, Action tremor |
OMIM:300703 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Seizure, Short mandibular... |
OMIM:141300 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Exaggerated startle response, Abnormality of ext... |
ORPHA:320406 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal py... |
OMIM:613135 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Babinski sign, Spastic paraplegia, Exaggerated startle response |
OMIM:609541 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Rigidity, Tremor, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Fasciculations, Intrauterine growth retard... |
OMIM:620327 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Dystonia, Postural tremor, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Tremor |
OMIM:610297 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response |
ORPHA:3198 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Unsteady gait, Dental malocclusion, Gait ataxia, High palate |
OMIM:618292 |
Sandhoff Disease, Infantile Form |
|
Infantile axial hypotonia, Spasticity, Myoclonus, Exaggerated startle response |
ORPHA:309155 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Hypotonia, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonu... |
OMIM:616981 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Hypotonia, Intention tremor, Abnormality of extrapyramidal motor function, Neonatal hypot... |
OMIM:302500 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Short stature, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia, Spas... |
OMIM:608029 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Dystonia 15, Myoclonic |
|
Myoclonus, Writer's cramp, Dystonia |
OMIM:607488 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hypotonia |
OMIM:620114 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Gait ataxia |
ORPHA:423296 |
Developmental And Epileptic Encephalopathy 40 |
|
Axial hypotonia, Small for gestational age, Spastic tetraparesis, Hypotonia, Choreoathetosis, Myo... |
OMIM:617065 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Hypotonia, Limb dystonia, Intrauterine growth retardation |
OMIM:620270 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618285 |
Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Hypotonia, Fasciculations, ... |
OMIM:268800 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Frequent falls, Tremor, Dysmetria, Clumsiness, Ankl... |
ORPHA:845 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ankle clonus, Bradykin... |
ORPHA:521406 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Growth delay, Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Optic atrophy, Hypotonia, Hemiparesis, Abnormality of extrapyramidal m... |
OMIM:615338 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... |
OMIM:608105 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Hypotonia, Spastic tetraplegia, Hy... |
OMIM:615574 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Short stature, Rigidity, Tremor, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, Dystonia |
ORPHA:438216 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Axial hypotonia, Ataxia |
OMIM:618951 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Axial hypotonia, Facial-lingual fasciculations, Spastic tetraplegia... |
OMIM:617281 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... |
ORPHA:454887 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Babinski sign, Impaired vibrat... |
ORPHA:251282 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion, Ataxia |
OMIM:619692 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... |
OMIM:617284 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Clonus, Axial hypotonia |
OMIM:617301 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinocerebellar Ataxia 13 |
|
Abnormal pyramidal sign, Optic atrophy, Hypotonia, Gait ataxia, Limb ataxia, Progressive cerebell... |
OMIM:605259 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypotonia |
OMIM:619561 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Babinski sign, Abnormal pyramidal sign, Hypotonia, Hypert... |
OMIM:617527 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized hypotonia, Limb... |
ORPHA:71517 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Seizure, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Abnormality ... |
ORPHA:521426 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Rigidity, Tremor, Abnormal pyra... |
ORPHA:240103 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... |
OMIM:213200 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Growth delay, Dystonia, Oculomotor apraxia, Spa... |
OMIM:612716 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... |
ORPHA:363710 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Hypotonia, Dysmetria |
OMIM:617917 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function... |
ORPHA:352596 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,... |
OMIM:606703 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, C... |
ORPHA:225154 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Abnormal cortical gyration, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, P... |
ORPHA:98756 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... |
OMIM:600363 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, ... |
OMIM:618587 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Hyperkinetic movements, Myoclonu... |
OMIM:614254 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Dental malocclusion, Short philtr... |
ORPHA:2471 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Hypotonia, Choreoathetosis, Myoclonus, Failure to thrive |
OMIM:609056 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Abnormality of extrapyramidal motor function, Decerebrate rigidity,... |
ORPHA:79255 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Ankle clonus, Spasticity, Fasciculations |
OMIM:620323 |
Urocanase Deficiency |
|
Ataxia, Short stature, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus |
OMIM:613608 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Short stature |
ORPHA:1368 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Small for gestational age, Rigidity, Tremor, ... |
ORPHA:70594 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br... |
ORPHA:13 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls |
OMIM:616540 |
Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity |
OMIM:616139 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Rigidity, Tremor, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia |
OMIM:617916 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia |
ORPHA:306669 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Rigidity, Tremor, Choreoathetos... |
OMIM:261640 |
Pontocerebellar Hypoplasia, Type 1E |
|
Neonatal hypotonia, Optic atrophy, Myoclonus |
OMIM:619303 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Failure to thrive, Axial hypotonia, Myoclonus |
OMIM:610090 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Hypotonia |
ORPHA:397933 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, Hyperkinetic movements, Dystonia, Neonatal hypoto... |
OMIM:618218 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Hypotonia, Dystonia |
ORPHA:139406 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Generalized... |
OMIM:233910 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Spastic paraplegia, Abnormal ... |
OMIM:617225 |
Peho-Like Syndrome |
|
Pachygyria, Optic atrophy, Hypotonia, Lissencephaly, Myoclonus, Neonatal hypotonia, Polymicrogyria |
OMIM:617507 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Hypotonia, Myoclonus |
OMIM:616366 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Hypotonia, Eyelid myoclonus |
OMIM:616421 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Short stature, Rigidity, Tremor, Hypotonia, Choreoathetosis, Dystonia, O... |
OMIM:612438 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Tremor, Distal sensory... |
ORPHA:90117 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Spasticity, Fasciculations |
OMIM:614808 |
Juvenile Huntington Disease |
|
Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Postural tremor, Rigidity, Babinsk... |
ORPHA:101150 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, Seizure, H... |
OMIM:610883 |
Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Hypotonia, Myoclonus, Spasticity, Failure to thrive |
OMIM:612015 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Failure to thrive, Hypotonia, Dysmetria, Myoclonus |
OMIM:618251 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Hypotonia, Generalized hypotonia |
OMIM:253800 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Axial hypotonia, Ataxia, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Frequent f... |
OMIM:301020 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... |
ORPHA:726 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Generalized hypotonia, Dystonia... |
OMIM:617493 |
Foxg1 Syndrome |
|
Dystonia, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Decreased body weight, S... |
ORPHA:561854 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Slender build, Limb tremor, Myoclonus |
OMIM:300699 |
Hereditary Geniospasm |
|
Chin myoclonus, Intention tremor |
ORPHA:53372 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... |
ORPHA:61 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:614831 |
Hsd10 Disease |
|
Ataxia, Rigidity, Tremor, Postnatal growth retardation, Choreoathetosis, Myoclonus, Infantile mus... |
ORPHA:391417 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Hypotonia, Abnormality of neuronal ... |
OMIM:300957 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... |
ORPHA:397946 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fasciculations, Upper ... |
ORPHA:276435 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Failure to thrive |
ORPHA:477673 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Rigidity, Tremor, Hypotonia, Dysmetria, Gait ataxia |
OMIM:618090 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Optic atrophy, Hypotonia, Myoclonus, Generalized hypotonia, Spasticity |
OMIM:256730 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, D... |
OMIM:619317 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Palatal tremor, Abnormal pyramidal sign, Hypotonia, Generalized hypotonia, Spas... |
ORPHA:363717 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Rigidity, Tremor, Hypotonia, Hypertonia, Spasticity |
ORPHA:33445 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Rigidity, Tremor, Chorea, Babinski sign, Blepharospasm, Cho... |
OMIM:606159 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
Schindler Disease, Type I |
|
Optic atrophy, Hypotonia, Myoclonus, Generalized hypotonia, Spasticity |
OMIM:609241 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo... |
OMIM:253250 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity, Pachygyria |
OMIM:620094 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Optic atrophy, Small for gestational age, Myoclonus |
OMIM:619057 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Short stature, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:300619 |
Developmental And Epileptic Encephalopathy 109 |
|
Axial hypotonia, Hypotonia, Gait ataxia, Myoclonus, Spasticity, Failure to thrive |
OMIM:620145 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Short stature, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculom... |
ORPHA:1170 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion |
OMIM:615541 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Infantile muscular hypotonia |
ORPHA:79234 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:617829 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Waddling gait, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Cryptorchidism, Dental malocclusion, Wide mout... |
OMIM:619293 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypotonia, Myoclonus, Limb... |
ORPHA:508093 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hypotonia, Spastic tetraparesis |
OMIM:619470 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intent... |
OMIM:610185 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Axial hypotonia, Rigidity, Myoclonus, Failure to thrive, Polymicrogyria |
OMIM:300673 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Diastema, Malar flattening, Dental malocclusion, Micrognathia |
ORPHA:436245 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Atypical Rett Syndrome |
|
Involuntary movements, Impaired pain sensation, Tremor, Limb myoclonus, Hypotonia, Gait ataxia, P... |
ORPHA:3095 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Spasticity |
OMIM:609260 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Hypertonia, Short stature, Exaggerated startle response |
OMIM:618367 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Axial hypotonia, Limb hypertonia |
OMIM:617162 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Rigidity, Tremor, Head titubation, Hypotonia, Truncal ataxia, Gait ataxia, Choreoat... |
OMIM:618877 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:613680 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia |
OMIM:300983 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystoni... |
OMIM:617435 |
Muenke Syndrome |
|
Seizure, High palate, Malar flattening, Dental malocclusion |
OMIM:602849 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,... |
ORPHA:352649 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... |
OMIM:619862 |
Lessel-Kreienkamp Syndrome |
|
Seizure, Open mouth, Thin upper lip vermilion, Dental malocclusion |
OMIM:619149 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:606595 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Hyp... |
OMIM:183090 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypotonia, Abnormal autonomic nervous ... |
ORPHA:97229 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Spastic parapleg... |
OMIM:300055 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:605899 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Hypotonia, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Hypotonia, Dysmetria, Dysdiadochokine... |
OMIM:618356 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Myoclonus, Dystonia, Failure to th... |
OMIM:250620 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia |
ORPHA:306511 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torticollis, Tremor, Torsion dystonia |
OMIM:224500 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Rigidity, Tremor, Paraparesis, Spastic paraplegia, Babinski si... |
OMIM:606693 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus... |
ORPHA:401866 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria, Polymicrogyria, Abnor... |
ORPHA:99802 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... |
OMIM:615157 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Rigidity, Tremor, Abnormal pyrami... |
ORPHA:99750 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Intrauterine growth retardation, Tremor, Dystonia |
OMIM:615010 |
Spinocerebellar Ataxia 17 |
|
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Myoclo... |
OMIM:607136 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Failure to thrive, Hypertonia, Hypotonia, Hyperkinetic movements |
OMIM:236270 |
Hypermanganesemia With Dystonia 2 |
|
Axial hypotonia, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
OMIM:617013 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Tremor, Delayed menarche, Oculogyric crisis, Dystonia |
ORPHA:330050 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality... |
ORPHA:251028 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Microcephaly, Amish Type |
|
Axial hypotonia, Optic atrophy, Myoclonus, Failure to thrive, Limb hypertonia |
OMIM:607196 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... |
ORPHA:79263 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Rigidity, Tremor, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Freq... |
OMIM:159950 |
4H Leukodystrophy |
|
Ataxia, Short stature, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
Developmental And Epileptic Encephalopathy 72 |
|
Axial hypotonia, Hyperkinetic movements |
OMIM:618374 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:271980 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Eyelid myoclonus, Clumsiness, Myoclonus, Limb myo... |
ORPHA:2590 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Impaired vi... |
OMIM:616795 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia |
ORPHA:725 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Fasciculations |
OMIM:137200 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... |
OMIM:128100 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys... |
ORPHA:251347 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Hypotonia, Athetosis, Myoclonus |
OMIM:617235 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Ataxia, Dental malocclusion, Narrow palate, Thick upper lip vermilion |
OMIM:617883 |
Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Bradykinesia, Progressive cere... |
ORPHA:98755 |
Progressive Supranuclear Palsy |
|
Rigidity, Tremor, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dystonia |
ORPHA:683 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin... |
ORPHA:363444 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, S... |
ORPHA:3079 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypotonia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fascicul... |
OMIM:607596 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion, Dental mal... |
ORPHA:85321 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, ... |
OMIM:312170 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Oculomotor apraxia, Dysmetria, Generalized hypotonia, Neonatal hypotonia |
OMIM:614867 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Spastic tetraplegia, Myoclonus |
OMIM:619971 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Dental malocclusion, Cle... |
OMIM:210600 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Generalized clonic seizure, Deep philtrum, Dental maloccl... |
ORPHA:329178 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Short stature, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity, D... |
OMIM:607694 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, Hypertonia, Tongue fa... |
OMIM:614153 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Spastic paraplegia, Babinski sign, Impaired distal vibration sensation, Te... |
OMIM:616586 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... |
ORPHA:210110 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chin myoclonus, Myoclon... |
ORPHA:263516 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxia, S... |
OMIM:614487 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypotonia, Generalized hypotonia, Fasciculations |
OMIM:610717 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Hypotonia, Hypertonia, Failure to thrive |
OMIM:619556 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Seizure, Taurodontia, ... |
ORPHA:2563 |
Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Short stature, Parkinsonism, Tremor, Obesity |
ORPHA:3077 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Hypotonia,... |
ORPHA:137898 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Harrod Syndrome |
|
Cryptorchidism, Dental malocclusion, Seizure, High palate, Narrow mouth |
ORPHA:2115 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sign, Spastic paraplegi... |
OMIM:615491 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Selective toot... |
ORPHA:2959 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Rigidit... |
OMIM:612953 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive |
OMIM:617744 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Blepharospa... |
ORPHA:101 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Rigidity, Tremor, Optic atrophy, Myoc... |
ORPHA:442835 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Growth delay, Dystonia |
OMIM:619422 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Early Myoclonic Encephalopathy |
|
Hypotonia, Myoclonus |
ORPHA:1935 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Generalized hypot... |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus, Generalized hypotonia |
OMIM:617391 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype... |
OMIM:616505 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... |
OMIM:607483 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Truncal ataxia, Limb ataxia, Gait at... |
OMIM:208920 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Optic atrophy, Hypotonia, Athetosis, Myoclonus |
OMIM:618241 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Babinski sign, Optic atrophy, Truncal ataxia, Myoclonus, Dystonia, Neonatal hypotonia, Sp... |
OMIM:252011 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Cryptorchidism, Thick lower lip vermilion, Orofacial cleft, Downturned corners... |
OMIM:123450 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ataxia, Cryptorchidism, Dental malocclusion, Downturned corners of mout... |
OMIM:616737 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Fa... |
ORPHA:309162 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
Amish Nemaline Myopathy |
|
Neonatal hypotonia, Tremor |
ORPHA:98902 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Short stature, Tremor, Head titubation, Spastic par... |
OMIM:312080 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Neuronal Intranuclear Inclusion Disease |
|
Rigidity, Somatic sensory dysfunction, Ataxia, Tremor |
OMIM:603472 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Impaired pain sensation |
ORPHA:99014 |
Trisomy X |
|
Tremor, Hypotonia |
ORPHA:3375 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Myoclonus |
OMIM:225753 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Small for gestational age, Hypotonia, Facial diplegia, Athetosis, Hyperkinetic movements, Dystoni... |
OMIM:612073 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Hypertonia, Myoclonus, Infantile muscular hypotonia, Infantile axial h... |
ORPHA:289266 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Micrognathia, Unsteady gait, Dental malocclusion, Seizure, High palate, Widely ... |
OMIM:606232 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titu... |
ORPHA:225147 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:204200 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Bilateral tonic-clonic seizure, Selective tooth agenesis, Micrognathia, High, narrow... |
OMIM:234100 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Micrognathia |
OMIM:617258 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Generalized hypotonia,... |
OMIM:618060 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Growth delay... |
ORPHA:765 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor apraxi... |
ORPHA:313772 |
Machado-Joseph Disease |
|
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Truncal ataxia, Lim... |
OMIM:109150 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Pontocerebellar Hypoplasia, Type 1D |
|
Axial hypotonia, Appendicular hypotonia, Tongue fasciculations, Generalized hypotonia, Fasciculat... |
OMIM:618065 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Hypotonia, Hyperkinetic movements, Upper limb spasticity |
ORPHA:457240 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
OMIM:300894 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... |
OMIM:164400 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Obesity, Fasciculations, Dystonia, Spasticity, Pr... |
ORPHA:464282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:600882 |
Benign Samaritan Congenital Myopathy |
|
Frog-leg posture, Fasciculations, Generalized hypotonia |
ORPHA:324581 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
Ddost-Cdg |
|
Short stature, Tremor, Oromotor apraxia, Generalized hypotonia, Failure to thrive |
ORPHA:300536 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Hypotonia, Dysmetria, Facial diplegi... |
OMIM:617302 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Weight loss, Clumsiness, Bradykin... |
ORPHA:399 |
Perry Syndrome |
|
Parkinsonism, Rigidity, Tremor, Weight loss, Bradykinesia, Dystonia |
OMIM:168605 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Intrauterine growth retardation, Hypotonia, Dysmetria |
OMIM:615578 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Spastic tetraparesis, Simplified gyral pattern, Hypertonia, Lissenc... |
ORPHA:284417 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Myoclonus, Generalized hypotonia, Decreased body weight |
OMIM:619060 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Hypotonia, Abnormality of extrapy... |
ORPHA:79279 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Growth delay, Dys... |
OMIM:614381 |
Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, High palate, Dental malocclusion |
OMIM:310400 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity |
ORPHA:542310 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements, Obesity, Generalized hypotonia |
ORPHA:289522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Short stature, Involuntary movements, Myoclonus, Dystonia, Infantil... |
ORPHA:438213 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Larsen-Like Syndrome |
|
Malar flattening, Dental malocclusion, Cleft palate |
OMIM:608545 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Hypotonia, Spastic tetraplegia,... |
OMIM:619847 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Optic atrophy, Hypotonia, Gait ataxia, Hyperkinetic movements, Spasticity |
OMIM:620089 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Focal-onset seizure, Generalized-onset seizure, Status epilepticus |
ORPHA:83601 |
Leukodystrophy, Hypomyelinating, 10 |
|
Axial hypotonia, Babinski sign, Hyperkinetic movements, Spasticity, Failure to thrive |
OMIM:616420 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Tetraplegia, Fasciculations, Hand tremor |
OMIM:604484 |
Sialidosis Type 2 |
|
Tremor, Short stature, Ataxia, Generalized hypotonia |
ORPHA:87876 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, Seizure, High palate... |
OMIM:300867 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... |
OMIM:605711 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Axial hypotonia, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Abnormal autonomic n... |
OMIM:614498 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Peho Syndrome |
|
Severe muscular hypotonia, Optic atrophy, Myoclonus, Generalized hypotonia, Pachygyria, Polymicro... |
OMIM:260565 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Generalized hypotonia, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Gait ataxia, Titubation, Clumsiness, ... |
ORPHA:98768 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dystonia |
OMIM:304700 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Hypotonia, Spastic diplegia, Choreoatheto... |
ORPHA:391428 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Abnormal autonomic nervous system physiology, Sp... |
ORPHA:363722 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... |
ORPHA:420492 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Growth delay, Abnormality... |
OMIM:615673 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia,... |
OMIM:617710 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Cryptorchidism, Dental malocclusion, Wide mouth, High pal... |
OMIM:611174 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Spastic tetraparesis, Optic atrophy, Hypotonia, Simplified gyral patte... |
OMIM:614261 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Hypotonia, Myoclonus |
OMIM:618225 |
Hyperekplexia 4 |
|
Hypertonia, Myoclonus |
OMIM:618011 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis |
OMIM:612164 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Truncal ataxia, Infantile muscular hypotonia |
ORPHA:369847 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Hypotonia, Opisthotonus, M... |
OMIM:620352 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Fasciculations |
OMIM:608627 |
Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Axial hypotonia, Hypotonia, Opisthotonus |
OMIM:619814 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
D-Glyceric Aciduria |
|
Axial hypotonia, Optic nerve hypoplasia, Hypotonia, Spastic tetraplegia, Opisthotonus, Myoclonus,... |
OMIM:220120 |
Oliver Syndrome |
|
Mandibular prognathia, Bilateral tonic-clonic seizure, Dental malocclusion, High palate, Short ph... |
ORPHA:2920 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Hypotonia, Myoclonus |
OMIM:617290 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Fasciculations |
OMIM:615290 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:168600 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Irregular menstruation, Facial palsy secondary to cra... |
OMIM:269500 |
Localized Scleroderma |
|
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Seizure, ... |
ORPHA:90289 |
Ataxia-Telangiectasia |
|
Ataxia, Short stature, Tremor, Delayed puberty, Spasticity, Failure to thrive |
ORPHA:100 |
Pontocerebellar Hypoplasia, Type 2E |
|
Optic atrophy, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Neonatal hypotonia, Spas... |
OMIM:615851 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Dysmetria, Clumsi... |
ORPHA:228360 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Dys... |
OMIM:607822 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Cryptorchidism, Unstead... |
ORPHA:96121 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Short stature, Hypotonia, Growth delay, Intrauterine growth retarda... |
OMIM:619522 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent... |
OMIM:101800 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypotonia, Myoclonus |
OMIM:615859 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Tremor, Hypotonia, Failure to thrive, Decreased body mass index |
ORPHA:370079 |
Noonan Syndrome 4 |
|
Wide mouth, Cryptorchidism, Thick vermilion border, Dental malocclusion |
OMIM:610733 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Abnormal autonomic ... |
ORPHA:171695 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Fa... |
OMIM:616672 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:209885 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Hypotonia, Clumsiness, Bradykinesia... |
OMIM:617854 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Typica... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Typica... |
ORPHA:352665 |
Autosomal Recessive Ataxia, Beauce Type |
|
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Arm dystonia, ... |
ORPHA:88644 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:615546 |
Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Cryptorchidism, Agenesi... |
OMIM:610829 |
Cockayne Syndrome A |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, ... |
OMIM:216400 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion |
OMIM:608940 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dyst... |
OMIM:616271 |
Martin-Probst Syndrome |
|
Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Chordee... |
OMIM:300519 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Myoclonus, Dystonia |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Chorea, Hypotonia, Myoclonus, Slender build |
OMIM:617600 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... |
OMIM:300373 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Rigidity, Tremor, Progressive extrapyramidal movement disorder, Focal dystonia, C... |
ORPHA:199351 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Hypotonia, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, Ankle clonu... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Hypotonia, Hyperkinetic movements, Generalized hypotonia, Truncal ataxia, Decreased body ... |
OMIM:300243 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Posttransplant Acute Limbic Encephalitis |
|
Myoclonus, Ataxia, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:163921 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Optic atrophy, Simplified gyral pattern, Myoclonus, Dys... |
OMIM:617669 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Growth delay, Hypertonia, Hemiplegia |
ORPHA:79254 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypertonia, Myoclonus, Axial hypotonia |
ORPHA:79096 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Progressive cerebellar ataxia, Upper limb spasticity, Myoclonus, I... |
ORPHA:485350 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Palatal tremor, Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity |
OMIM:221770 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cleft palate, ... |
OMIM:616894 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Myoclonus, Apraxia |
OMIM:618193 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Fasciculations |
OMIM:614436 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:615530 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hig... |
OMIM:265000 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Hypertonia, Tremor |
OMIM:176500 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Dysmetria, Limb ataxia, Distal sensory impairment, Growth delay, D... |
OMIM:617675 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Odont... |
ORPHA:800 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Severe muscular hypotonia, Optic atrophy, Hypertonia, Myoclonus, Spast... |
ORPHA:3078 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Cryptorchidism |
OMIM:616202 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Tetraparesis, Myoclonus, Generalized hypotonia |
OMIM:618972 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Cryptorchidism, Dental malocclusion,... |
ORPHA:97360 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long p... |
ORPHA:444072 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Galloway-Mowat Syndrome 10 |
|
Simplified gyral pattern, Hypotonia, Myoclonus |
OMIM:619609 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ... |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Hypotonia, Myoclonus, Dystonia, Neonatal death |
OMIM:620167 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Dental malo... |
OMIM:603457 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Severe muscular hypotonia, Stillbirth, Tongue fasciculations, Generalized hypotonia, Myoclonus, N... |
OMIM:614922 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... |
ORPHA:99027 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Seizure, Dental malocclusion |
ORPHA:1855 |
Lennox-Gastaut Syndrome |
|
Myoclonus |
ORPHA:2382 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Optic atrophy, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, ... |
OMIM:614969 |
Cog8-Cdg |
|
Failure to thrive, Ataxia, Myoclonus, Infantile muscular hypotonia |
ORPHA:95428 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae |
OMIM:617101 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Dental malocclusion, Decreased fertility, Abnormal facial skelet... |
ORPHA:562 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Myoclonus, Intention tremor |
OMIM:610539 |
Cockayne Syndrome |
|
Abnormal dental morphology, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cryptorchid... |
ORPHA:191 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin, Short neck |
ORPHA:98791 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow palate, High... |
OMIM:182212 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
D-Glyceric Aciduria |
|
Spasticity, Chorea, Myoclonus, Infantile muscular hypotonia |
ORPHA:941 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... |
OMIM:101200 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Tremor, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Dystonia, Fa... |
OMIM:617988 |
Au-Kline Syndrome |
|
Cryptorchidism, Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mouth, Oli... |
OMIM:616580 |
Fatal Familial Insomnia |
|
Myoclonus, Ataxia, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:600072 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental malocclusion, Downturned corners of ... |
ORPHA:487796 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Truncal ataxia, Paraplegia, Limb ataxia, Hemiparesis, Po... |
OMIM:105210 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Hypotonia, Growth delay, Generalized hypotonia, Neonat... |
OMIM:614052 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Generalized hypot... |
OMIM:614299 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Micrognathia, Dental malocclusion, Thin vermilion border, Man... |
OMIM:614008 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, ... |
OMIM:133540 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:604218 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Hypotonia, Myoclonus, Dystonia, Neonatal death |
OMIM:619167 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Neonatal hypotonia, Hypotonia, Myoclonus |
OMIM:616158 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Ataxia, Hypotonia, Myoclonus |
OMIM:560000 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Fasciculations |
ORPHA:206546 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Optic atrophy, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclonus, Dys... |
ORPHA:500144 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tremor, Obesity, Neonatal hypotonia |
OMIM:619680 |
Rubinstein-Taybi Syndrome 1 |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:180849 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Short stature, Tremor, Chorea, Hypotonia, Truncal ataxia, Athetosis, Hype... |
OMIM:615356 |
Adenylosuccinase Deficiency |
|
Hypotonia, Gait ataxia, Opisthotonus, Myoclonus, Generalized hypotonia, Hemiplegia, Spasticity |
OMIM:103050 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfunction, Optic atrophy, Spastic dip... |
ORPHA:506 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Cryptorchidism, Dental malocclusion, High palate, Narrow mo... |
OMIM:102500 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Trismus, Deep philtrum, Cryptorchidism, Dental malocclusion, Narrow palate, Wide mouth, High palate |
OMIM:227330 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Hypotonia, Myoclonus |
ORPHA:812 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Spastic paraplegia, Babinski sign, Dysmetria, Spasticity |
OMIM:618527 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Hypotonia, Progressive extrapyramidal movement disorder, Opisthotonus, C... |
ORPHA:445038 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Frequ... |
ORPHA:329478 |
Developmental And Epileptic Encephalopathy 89 |
|
Axial hypotonia, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Neonatal death, Spas... |
OMIM:619124 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Fasci... |
ORPHA:52430 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Neuraminidase Deficiency |
|
Slurred speech, Hypotonia, Dysmetria, Myoclonus, Generalized hypotonia |
OMIM:256550 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Infantile muscular hypotonia,... |
ORPHA:93399 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Severe muscular hypotonia, Ataxia, Poor motor coordination, Rigidity, Tremor, Chor... |
ORPHA:25 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypotonia, Spastic tetraplegia, Generalized hypotonia, Myoclonus |
OMIM:614462 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D... |
OMIM:618371 |
Tetanus |
|
Rigidity, Tremor, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus |
ORPHA:324708 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Ovoid vertebral bodies, Thrombocytopenia, Persistence of he... |
OMIM:260400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Clonus, Spastic tetraplegia, Myoclonus, Generalized hypotonia, Neonata... |
OMIM:619055 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Limb myoclonus, Periventricular nodular heterotopia |
ORPHA:352582 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypotonia, Myoclonus |
ORPHA:411986 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive |
OMIM:613179 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig... |
OMIM:249420 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Axial hypotonia, Severe muscular hypotonia, Hypotonia, Myoclonus, Spasticity |
OMIM:612949 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Ataxia, Abnormal dental enamel morphology... |
ORPHA:666 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Abnormal pyramidal sign, ... |
ORPHA:468631 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Cryptorchidism, Supernumerary tooth, Sub... |
OMIM:300166 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Facial diplegia, Frequent falls, Fasciculations, Clumsiness |
ORPHA:521411 |
Brody Disease |
|
Fasciculations |
OMIM:601003 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Axial hypotonia, Clonus, Ataxia, Oculomotor apraxia, Babinski sign, Opistho... |
OMIM:618076 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuron dysfunction |
ORPHA:275864 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Tremor, Fasciculations |
ORPHA:209335 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Cryptorchidism, Supernumerary tooth, Talon cusp, Den... |
ORPHA:353281 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Rigidity, Tremor, Babinski sign, Bradykinesia |
OMIM:146500 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Axial hypotonia, Facial hypotonia, Babinski sign, Myoclonus, Spasticity, Slender build |
ORPHA:364028 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Axial hypotonia, Small for gestational age, Ataxia, Vocal cord paralysis, ... |
OMIM:617799 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, Seizure, Hi... |
OMIM:303600 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Involuntary movements, Chorea, Hypotonia, Dysmetria, Athetosis, Hyperkinetic mo... |
OMIM:615273 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dystonia |
OMIM:168601 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:168593 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Sialuria |
|
Hyperkinetic movements, Generalized hypotonia |
ORPHA:3166 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Rigidity, Tremor, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla |
OMIM:612731 |
Young-Onset Parkinson Disease |
|
Rigidity, Tremor, Bradykinesia, Dystonia, Spasticity |
ORPHA:2828 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Small for gestational age, Facial hypotonia, Chorea, Optic atrophy, Athetosis,... |
ORPHA:404454 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive |
OMIM:256700 |
Ataxia-Telangiectasia |
|
Ataxia, Short stature, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dy... |
OMIM:208900 |
Unilateral Polymicrogyria |
|
Axial hypotonia, Involuntary movements, Perisylvian polymicrogyria, Spastic tetraplegia, Hemipare... |
ORPHA:268943 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Hypotonia, Growth delay, Hypertonia, Generalized hypotonia, Dystonia, Neonatal de... |
OMIM:617248 |
Pediatric-Onset Graves Disease |
|
Tremor, Failure to thrive, Hyperkinetic movements |
ORPHA:525731 |
Williams Syndrome |
|
Micrognathia, Dysmetria, Microdontia, Abnormal dental morphology, Abnormal dental enamel morpholo... |
ORPHA:904 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... |
ORPHA:73223 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Tremor, Postnatal growth retardation, Abnormal pyramidal sign, Abnormality... |
OMIM:612199 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short neck, Congenital hypoplastic anemia, Reticulocytopenia, Hypoplastic sacr... |
OMIM:105650 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt... |
OMIM:301040 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Cryptorchidism, Supernumerary tooth, T... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Cryptorchidism, Supernumerary tooth, T... |
ORPHA:353277 |
Brain-Lung-Thyroid Syndrome |
|
Apraxia, Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathet... |
ORPHA:209905 |
Carpenter Syndrome 2 |
|
Carious teeth, High, narrow palate, Bilateral cryptorchidism, Cryptorchidism, Dental malocclusion... |
OMIM:614976 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Rigidity, Tremor, Babinski sign, Abnormal pyramidal sign, B... |
OMIM:234200 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, ... |
ORPHA:496641 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Hypotonia, Obesity |
OMIM:614947 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Overweight, Tremor, Hypotonia, Obesity, Upper lim... |
OMIM:619229 |
Serotonin Syndrome |
|
Clonus, Rigidity, Tremor, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system |
ORPHA:43116 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Dystonia, Athetoid cerebr... |
ORPHA:522077 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
Fraser Syndrome 1 |
|
Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Seizure, Dif... |
OMIM:219000 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Hypotonia, Myoclonus |
OMIM:246450 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossopharyngeal nerve ... |
ORPHA:297 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Congenital Sialidosis Type 2 |
|
Ataxia, Optic atrophy, Hypotonia, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Full Schwannomatosis |
|
Fasciculations, Bilateral vestibular schwannoma |
ORPHA:93921 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonu... |
OMIM:618321 |
Immunodeficiency 23 |
|
Ataxia, Hypotonia, Myoclonus, Generalized hypotonia, Failure to thrive, Cortical myoclonus |
OMIM:615816 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, Tremor, Obesity, Myoclonus, Infantile muscular hypotonia |
ORPHA:98794 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion |
OMIM:259730 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Fascicu... |
ORPHA:2912 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Hypotonia, Hypertonia, Spasticity, Failure to thrive |
OMIM:616539 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Failure to thrive, Hypotonia, Generalized hypotonia |
OMIM:251100 |
Monosomy 22Q13.3 |
|
Seizure, Dental crowding, Malar flattening, Dental malocclusion |
ORPHA:48652 |
Noonan Syndrome 1 |
|
Male infertility, Micrognathia, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft p... |
OMIM:163950 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Short neck, Erythroid hypoplasia, Reticulocytopeni... |
ORPHA:124 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonus, Dystonia, Failure to thrive, Infa... |
ORPHA:17 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Hypotonia, Myoclonus, Right hemiplegia |
OMIM:607426 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Truncal obesity, Lower limb h... |
OMIM:301072 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Spasticity, Failure to thrive |
OMIM:618426 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:168491 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Ol... |
OMIM:305600 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ... |
ORPHA:466768 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Angelman Syndrome |
|
Optic disc pallor, Ataxia, Tremor, Optic atrophy, Obesity, Myoclonus, Infantile muscular hypotonia |
ORPHA:72 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Retrocollis, Limb d... |
OMIM:601104 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:447997 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Neonatal hypotonia, Severe muscular hypotonia, Myoclonus, Speech apraxia |
ORPHA:314655 |
Fraser Syndrome |
|
Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacial cleft, High pala... |
ORPHA:2052 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Neonatal hypotonia, Obesity, Myoclonus |
ORPHA:251004 |
Dystonia-Aphonia Syndrome |
|
Oromandibular dystonia, Generalized dystonia, Myoclonus |
ORPHA:412217 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Fasciculations |
ORPHA:3099 |
Developmental And Epileptic Encephalopathy 100 |
|
Axial hypotonia, Chorea, Hypotonia, Gait ataxia, Choreoathetosis, Appendicular hypotonia, Myoclon... |
OMIM:619777 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Early Infantile Epileptic Encephalopathy |
|
Failure to thrive, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, Pac... |
ORPHA:1934 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Cryptorchidism, Submucous cleft lip, Den... |
OMIM:312870 |
Williams-Beuren Syndrome |
|
Thick lower lip vermilion, Dental malocclusion, Hypodontia, Gait imbalance, Long philtrum, Microd... |
OMIM:194050 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Ataxia, Myoclonus, Infantile muscular hypotonia, Oculomotor apraxia |
ORPHA:247262 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Orthostatic tachycardia, Rigid... |
ORPHA:217253 |
Developmental And Epileptic Encephalopathy 2 |
|
Hypotonia, Generalized hypotonia, Myoclonus |
OMIM:300672 |
Farber Disease |
|
Paraparesis, Myoclonus, Infantile muscular hypotonia, Spasticity, Failure to thrive |
ORPHA:333 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Hypotonia, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Failure to thrive, Cerebral palsy, Hypotonia, Myoclonus, Hemiplegia, Dystonia, Inf... |
OMIM:616973 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus |
ORPHA:2752 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Whipple Disease |
|
Ataxia, Abnormal pyramidal sign, Myoclonus, Cachexia |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Hypotonia, Myoclonus |
OMIM:614946 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Limb dystonia, Speech apraxia, Ataxia, Tremor, Chorea, Abn... |
ORPHA:646 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia, Myoclonus, F... |
OMIM:607459 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Tetraparesis, Failure... |
OMIM:203700 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Fabry Disease |
|
Abnormal autonomic nervous system physiology, Fasciculations |
OMIM:301500 |
Loeys-Dietz Syndrome 3 |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Lathosterolosis |
|
Failure to thrive, Hypotonia, Myoclonus |
ORPHA:46059 |
Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Optic atrophy, Hypotonia, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Melas |
|
Abnormal central motor function, Ataxia, Optic atrophy, Hemiparesis, Myoclonus, Failure to thrive |
ORPHA:550 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Myoclonus |
ORPHA:466677 |
9P13 Microdeletion Syndrome |
|
Myoclonus, Hand tremor |
ORPHA:324313 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Narcolepsy, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyp... |
ORPHA:293987 |
Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
Pgm3-Cdg |
|
Failure to thrive, Ataxia, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Myoclonus, Gait ataxia |
ORPHA:70595 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Axial hypotonia, Tetraplegia, Myoclonus, Dystonia, Failure to thrive |
OMIM:618278 |
Kinsship Syndrome |
|
Failure to thrive, Hypotonia, Spastic tetraparesis, Myoclonus |
OMIM:619297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Severe muscular hypotonia, Optic atrophy, Myoclonus, Generalized hypotonia, Spasticity, Pachygyri... |
OMIM:253280 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Lafora Disease |
|
Ataxia, Myoclonus, Erratic myoclonus, Spasticity, Giant somatosensory evoked potentials |
ORPHA:501 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Myoclonus |
ORPHA:1352 |
Ethylene Glycol Poisoning |
|
Slurred speech, Ataxia, Facial palsy, Myoclonus |
ORPHA:31826 |
Neutral Lipid Storage Myopathy |
|
Obesity, Generalized hypotonia, Fasciculations |
ORPHA:98908 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Myoclonus, Infantile muscular hypotonia |
ORPHA:3063 |
Myoclonic Epilepsy Of Lafora |
|
Myoclonus, Apraxia |
OMIM:254780 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Weight lo... |
ORPHA:3385 |
Listeriosis |
|
Tremor, Hemiparesis, Ataxia, Myoclonus |
ORPHA:533 |
Doors Syndrome |
|
Polymicrogyria, Optic atrophy, Myoclonus, Infantile muscular hypotonia |
ORPHA:79500 |
Crimean-Congo Hemorrhagic Fever |
|
Fasciculations |
ORPHA:99827 |