Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... |
ORPHA:401901 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Gait disturbance, Parkinsonism, Violent behavior, Inertia, Rigidity, Frequent falls, ... |
ORPHA:216873 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Corticobasal Syndrome |
|
Involuntary movements, Dystonia, Gait disturbance, Oromotor apraxia, Limb myoclonus, Dementia, Li... |
ORPHA:454887 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... |
OMIM:607454 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Ptosis, Myoclonus, Abnormality of extrapyramidal motor function, Hypokinesia, Tremor, P... |
OMIM:605407 |
Manganese Poisoning |
|
Postural tremor, Dystonia, Gait disturbance, Aggressive behavior, Abnormality of extrapyramidal m... |
ORPHA:306682 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Babinski sign, Dementia, Rigidity, Torticollis, Aggressive behavior, ... |
OMIM:606693 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Happy demeanor, Paresthesia, Rigidity, Tremor by anatomical... |
ORPHA:97349 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety,... |
OMIM:606438 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... |
ORPHA:99 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dystonia, Conjunctival hyperemia, Gait imbalance, Axial dystonia, Impulsivity, Fall... |
ORPHA:240071 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Shor... |
OMIM:168605 |
Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Aceruloplasminemia |
|
Involuntary movements, Dystonia, Rigidity, Torticollis, Chorea, Cognitive impairment, Apathy, Tre... |
ORPHA:48818 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... |
ORPHA:391411 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Dementia, Tremor by anatomical site, Cognitive i... |
ORPHA:98762 |
Huntington Disease-Like 1 |
|
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiet... |
OMIM:603218 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Babinski sign, Kinetic tremor, Rigidity, Ptosis, Cognitive impairment, Spasticity, Head... |
ORPHA:101109 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Agg... |
ORPHA:98811 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Tremor, Hypertonia, I... |
OMIM:261630 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, P... |
OMIM:618093 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorde... |
OMIM:617182 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Apathy, Irritability, Anxiety, Gait disturbance, Clonus, Bradyphrenia... |
ORPHA:399 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Ptosis, Myoclonus, Abnormality of extrapyramidal motor ... |
ORPHA:101150 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Frontal lobe dem... |
OMIM:607136 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... |
ORPHA:98773 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Huntington Disease-Like 2 |
|
Involuntary movements, Dystonia, Gait disturbance, Dementia, Chorea, Parkinsonism, Memory impairment |
ORPHA:98934 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Diminished movement, Limb apraxi... |
ORPHA:240103 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Dementia, Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia,... |
ORPHA:240094 |
Choreoathetosis, Familial Inverted |
|
Gait disturbance, Dementia, Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign |
OMIM:118750 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebel... |
ORPHA:248111 |
Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... |
OMIM:616413 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Ptosis, Spastic gait, Spastic dysarthria, Lower... |
ORPHA:251282 |
Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Abnormal social behavior, Lethargy, Gait ... |
ORPHA:255 |
Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
Pandas |
|
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... |
ORPHA:66624 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Gait disturbance, Dementia, Emotional lability, Chorea |
OMIM:607674 |
Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia, Mental deterio... |
OMIM:614820 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Difficulty walking, Ptosis, Frequent falls |
OMIM:616227 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Dentatorubral-Pallidoluysian Atrophy |
|
Dementia, Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Epicanthus, Stereotypy... |
OMIM:618218 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Dementia, Rigidity, Writer's cramp, Choreoathetosis, Chorea, Bradykinesi... |
OMIM:606159 |
Hereditary Late-Onset Parkinson Disease |
|
Dystonia, Dementia, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Frequent fall... |
ORPHA:411602 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Episodic hemiplegia, Mental deteri... |
OMIM:104290 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Gait disturbance, Dementia, Ptosis, Cardiomyopathy, Bradycardia, Hypogonadism, Diabetes mellitus,... |
OMIM:609286 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... |
OMIM:619150 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... |
OMIM:615483 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Huntington Disease |
|
Dementia, Rigidity, Chorea, Bradykinesia, Gait ataxia, Depression |
OMIM:143100 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Mental deterioration,... |
OMIM:618317 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Dystonia, Chorea, Paroxysmal dyskinesia |
OMIM:611031 |
Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability |
OMIM:612126 |
Spastic Ataxia 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Ptosis, Spastic ataxia, Spastic paraplegia, Memory impairment |
OMIM:108600 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Bradykinesia, Tremor, ... |
OMIM:261640 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Dystonia, Gait disturbance, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Ptosis, Chorea, Myoclonus, Falls, Brad... |
ORPHA:13 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysd... |
ORPHA:247234 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Resting tremor, Congestive heart failu... |
OMIM:606703 |
Myasthenic Syndrome, Congenital, 18 |
|
Ataxia, Difficulty walking, Ptosis |
OMIM:616330 |
Sydenham Chorea |
|
Inappropriate behavior, Chorea, Emotional lability, Irritability, Unsteady gait, Hemiballismus |
ORPHA:306731 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... |
OMIM:614254 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity, Depression |
OMIM:615889 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Growth delay, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Ocul... |
OMIM:612716 |
Foxg1 Syndrome |
|
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Severe postnatal growth retardatio... |
ORPHA:561854 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity |
OMIM:611105 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Short stature, Chorea, ... |
ORPHA:309246 |
Inherited Creutzfeldt-Jakob Disease |
|
Clumsiness, Spastic hemiparesis, Apathy, Irritability, Progressive forgetfulness, Abnormal pyrami... |
ORPHA:282166 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Dementia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebell... |
ORPHA:98756 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing |
OMIM:618760 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Parkinsonism, Dystonia, Gait disturbance, Dementia, Rigidity, Eyelid apraxia, Choreoathetosis, Ab... |
OMIM:234200 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Paroxysmal dystonia, Babinski sign, Choreoathetosis, Paroxysmal lethargy, Myoclonus, H... |
OMIM:606777 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Chorea, Epicanthus, Ataxia, Inability to walk, Synophrys |
OMIM:617804 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... |
ORPHA:71277 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... |
ORPHA:79263 |
Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spasticity |
ORPHA:385 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Ataxia, Tremor, Limb ataxia, Gait ataxia |
OMIM:617018 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity, Impulsivity, Depression |
ORPHA:88616 |
Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Dementia, Frequent falls, Dysmetria, Chorea,... |
ORPHA:157941 |
3-Methylglutaconic Aciduria, Type Iii |
|
Babinski sign, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor function, Ataxia... |
OMIM:258501 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Intrauterine growth retardation, Short stature, Poor coordination, Aggressive behavior, Epicanthu... |
OMIM:309548 |
Infantile Dystonia-Parkinsonism |
|
Parkinsonism, Dystonia, Limb hypertonia, Cerebral palsy, Chorea, Bradykinesia, Hypokinesia, Hyper... |
ORPHA:238455 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dementia, Rigidity, Resting tremor, Spasticity, Akinesia, Mental deterioration, Abn... |
OMIM:616840 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Ptosis, Diminished movem... |
OMIM:608643 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Gait disturbance, Dystonia, Postural tremor, Gait imbalance, Dysmetria, ... |
ORPHA:98755 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postnatal growth retardat... |
ORPHA:391417 |
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures |
|
Dystonia, Chorea, Spasticity |
OMIM:613970 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Babinski sign, Paroxysmal choreoathetosis, Difficulty walking, Frequent falls |
OMIM:500003 |
Fraxe Intellectual Disability |
|
Clumsiness, Intrauterine growth retardation, Short stature, Aggressive behavior, Epicanthus, Hype... |
ORPHA:100973 |
Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Dystonia, Progressive extrapyramidal movement disorder, Ptosis, Chorea, At... |
ORPHA:401768 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... |
ORPHA:79262 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Growth delay, Bradycardia, Tremor, Hypertonia |
OMIM:617248 |
Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Dystonia, Adrenal insufficiency, Intrauterine growth retardation, Ptosis, Choreoathetosis, Spasti... |
OMIM:618238 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic... |
OMIM:617270 |
Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia, Falls, Bradykine... |
OMIM:601104 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression |
OMIM:159900 |
Pontocerebellar Hypoplasia, Type 2C |
|
Dystonia, Chorea |
OMIM:612390 |
Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Choreoathetosis, Intention tremor, Dysdiadochokinesis, Emotional lability, Gait at... |
ORPHA:98890 |
Dystonia With Ringbinden |
|
Dystonia, Gait disturbance, Chorea |
OMIM:224550 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Chorea, Bradykinesia, Ataxia, Lethargy |
OMIM:618683 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism, Depression |
OMIM:614307 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity |
OMIM:616981 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Congestive ... |
ORPHA:324588 |
Neuroferritinopathy |
|
Involuntary movements, Dystonia, Arm dystonia, Leg dystonia, Babinski sign, Writer's cramp, Chore... |
ORPHA:157846 |
Striatonigral Degeneration, Infantile |
|
Dystonia, Spasticity, Choreoathetosis |
OMIM:271930 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Growth delay, Ptosis, Choreoathetosis, Self-mutilation, Tremor, Ataxia |
OMIM:619422 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:118800 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Poor eye contact, Ataxia, Inability to walk, Gait ataxia |
OMIM:618501 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Intrauterine growth retardation, Short stature, Ptosis |
OMIM:608747 |
Developmental And Epileptic Encephalopathy 27 |
|
Dystonia, Chorea, Spasticity |
OMIM:616139 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Tremo... |
OMIM:233910 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Dystonia, Babinski sign, Choreoathetosis, Ptosis, Chorea, Poor eye contact, Spasticity |
OMIM:618451 |
Supranuclear Palsy, Progressive, 2 |
|
Postural tremor, Gait imbalance, Axial dystonia, Rigidity, Eyelid apraxia, Frontolimbic dementia,... |
OMIM:609454 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety |
ORPHA:494541 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Babinski sign, Tremor |
OMIM:300660 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Aggressive behavior, Abnormality of e... |
ORPHA:500180 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements |
OMIM:618497 |
Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, F... |
OMIM:612953 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Ptosis, Chorea, Truncal titubati... |
OMIM:607483 |
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Anxiety |
OMIM:602066 |
Spinocerebellar Ataxia 12 |
|
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... |
OMIM:604326 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest, Epicanthus |
OMIM:618951 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Short stature, Frequent falls, Dysmetria, Chorea, Myoclonus, Intention tremor, Ataxia, ... |
ORPHA:251347 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Short stature, Cognitive impairment, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyra... |
OMIM:614947 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cognitive impairment, Tremor, Hypogonadism, Truncal ataxia, Spasticity, Ankle clon... |
OMIM:615768 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Rigidity, Bradykinesia, Hypokinesia, Dysdiadochokinesis |
OMIM:609161 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Growth delay, Atrioventricular block, Bradycardia, Intention tremor, Truncal ataxia, Lo... |
OMIM:614407 |
Myasthenic Syndrome, Congenital, 17 |
|
Difficulty walking, Ptosis |
OMIM:616304 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Tongue fasciculations, Short stature, Akinesia |
OMIM:618822 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Upper limb spasticity, Self-injurious behavior, Chorea, Aggressive behavior, Myoclonus, Lower lim... |
ORPHA:485350 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Short stature, Aggressive behavior, Shuffling gait, Lower... |
ORPHA:3077 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Cognitive impairment, Myocl... |
ORPHA:314632 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity, Epicanthus, Short stature |
ORPHA:85288 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Ataxia, S... |
OMIM:617672 |
African Trypanosomiasis |
|
Impaired proprioception, Abnormal prolactin level, Third degree atrioventricular block, Myocardit... |
ORPHA:3385 |
Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Dystonia, Gait disturbance, Parkinsonism, Rigidity, Writer's cramp, Tortic... |
ORPHA:98759 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... |
OMIM:617225 |
Trisomy X |
|
Upslanted palpebral fissure, Cognitive impairment, Epicanthus, Tremor, Anxiety, Attention deficit... |
ORPHA:3375 |
Sneddon Syndrome |
|
Hypertension, Dementia, Intracranial hemorrhage, Chorea, Hemiparesis, Tremor, Mental deterioratio... |
ORPHA:820 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short stature, Chorea, Spastic tetraplegia, Inability to walk, Hypertonia, Irritability, Spastici... |
OMIM:617864 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Mental deterioratio... |
OMIM:615924 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
Atypical Rett Syndrome |
|
Inappropriate crying, Poor eye contact, Panic attack, Impaired social interactions, Gait disturba... |
ORPHA:3095 |
Pyruvate Dehydrogenase Deficiency |
|
Dystonia, Gait disturbance, Intrauterine growth retardation, Growth delay, Choreoathetosis, Cereb... |
ORPHA:765 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Dystonia, Hypertonia, Intrauterine growth retardation, Bradycardia |
OMIM:614654 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia |
OMIM:618587 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Apathy, Tremor, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Parkinsonism, Chorea, Mental deterioration |
OMIM:616922 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... |
OMIM:300055 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression |
OMIM:605909 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Dystonia, Choreoathetosis, Ptosis, Episodic ataxia, Lethargy |
OMIM:312170 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Dystonia, Babinski sign, Progressive psychomotor deterioration, Orthostatic hypotensi... |
ORPHA:309271 |
Myopathy With Extrapyramidal Signs |
|
Clumsiness, Dystonia, Clonus, Growth delay, Choreoathetosis, Frequent falls, Chorea, Ptosis, Abno... |
OMIM:615673 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Ataxia, Tremor, Frequent falls |
OMIM:615945 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Short stature, Stereotypy |
DECIPHER:8 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Self-injurious behavior, Chore... |
ORPHA:382 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Distal sensory impairment, Ataxia, Tre... |
OMIM:208920 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... |
ORPHA:101 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... |
ORPHA:397946 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Falls, Shuffling gait, Bradykinesia, Apath... |
ORPHA:412066 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Clonus, Irritability, Spastic tetraplegia |
OMIM:613811 |
Lipoyltransferase 1 Deficiency |
|
Dystonia, Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Bradycar... |
OMIM:616299 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Growth delay, Choreoathetosis, Spastic tetraparesis, Hypertonia, Abnormal pyramidal sig... |
OMIM:308350 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Paresthesia, Ptosis, Cognitive impairment, Shuffling gait, Bradykinesia, Cogwheel rigidity, Cardi... |
ORPHA:254886 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... |
OMIM:618917 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Increased circulating T4 level, Decreased circulating free T3, Growth delay, Ptosis, Short statur... |
ORPHA:171706 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Babinski sign, Short stature, Chorea, Hypogonadotropic hypogonadism, Cognitive impairment, Decrea... |
OMIM:604168 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Ptosis, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, Gait ataxia |
OMIM:610246 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Short stature, Ptosis, Chorea, Self-mutilation, Hyperactivity, Ataxia, Hyper... |
ORPHA:52503 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Dental malocclusion |
OMIM:616108 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... |
ORPHA:53583 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Huntington Disease-Like 3 |
|
Dystonia, Chorea, Cognitive impairment, Abnormality of extrapyramidal motor function, Extrapyrami... |
ORPHA:157946 |
Spinocerebellar Ataxia 47 |
|
Short stature, Ptosis, Dysmetria, Chorea, Ataxia, Spasticity |
OMIM:617931 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, B... |
ORPHA:95717 |
Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Intrauterine growth retardation, Growth delay, Ptosis, Hand tremor, Upslanted palpebral... |
OMIM:618947 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Aceruloplasminemia |
|
Dementia, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel rigidity, A... |
OMIM:604290 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
Laryngoonychocutaneous Syndrome |
|
Amelogenesis imperfecta |
OMIM:245660 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... |
OMIM:615528 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Tetraplegia, Dystonia, Spasticity, Choreoathetosis |
OMIM:616034 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Mental deterioration |
OMIM:616187 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Short stature, Hypogonadism, Ataxia, Postnatal growth retardation |
OMIM:616113 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cogn... |
OMIM:608804 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Ptosis, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Ocu... |
OMIM:618049 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Epicanthus, Multiple pterygia, Akinesia |
OMIM:253290 |
Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Ptosis, Emotional lability, Spasticity, Difficulty walking |
ORPHA:101685 |
Gaucher Disease, Perinatal Lethal |
|
Opisthotonus, Intrauterine growth retardation, Neonatal death, Apathy, Progressive neurologic det... |
OMIM:608013 |
Friedreich Ataxia |
|
Impaired proprioception, Dystonia, Babinski sign, Gait imbalance, Impaired visually enhanced vest... |
ORPHA:95 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Dementia, Bilateral ptosis, Cognitive impairment, Ataxia, Depression |
ORPHA:329314 |
Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Arrhythmia... |
OMIM:614860 |
Fetal Akinesia Deformation Sequence |
|
Intrauterine growth retardation, Pterygium, Akinesia, Hypokinesia |
ORPHA:994 |
Xq25 Microduplication Syndrome |
|
Highly arched eyebrow, Short stature, Abnormality of the palpebral fissures, Epicanthus, Sparse e... |
ORPHA:521258 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Gait disturbance, Inappropriate crying, Ptosis, Cognitive impairment, Shuffling gait, T... |
ORPHA:352649 |
Jaberi-Elahi Syndrome |
|
Dystonia, Sparse eyelashes, Choreoathetosis, Dysmetria, Sparse eyebrow, Tremor, Inability to walk... |
OMIM:617988 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait disturbance, Babinski sign, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... |
ORPHA:225154 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... |
OMIM:615157 |
Coffin-Siris Syndrome 8 |
|
Ptosis, Self-injurious behavior, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow |
OMIM:618362 |
Gabriele-De Vries Syndrome |
|
Dystonia, Intrauterine growth retardation, Downslanted palpebral fissures, Tremor, Waddling gait |
OMIM:617557 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... |
OMIM:619191 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Vocal cord paralysis, Tach... |
OMIM:605373 |
Chromosome Xq25 Duplication Syndrome |
|
Highly arched eyebrow, Short stature, Epicanthus, Sparse eyebrow, Hyperactivity, Thick eyebrow, A... |
OMIM:300979 |
Mental Retardation, Autosomal Recessive 48 |
|
Narrow palpebral fissure, Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk... |
OMIM:616269 |
Dystonia 9 |
|
Dystonia, Paresthesia, Choreoathetosis, Cognitive impairment, Episodic ataxia, Spastic paraplegia... |
OMIM:601042 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Chorea, Progressive neurologic deterioration, Ataxia, Inability to w... |
ORPHA:70472 |
Otodental Dysplasia |
|
Hypodontia, Pulp calcification, Taurodontia, Long philtrum |
OMIM:166750 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Ptosis, Choreoathetosis, Oculomotor apraxia, Ataxia |
OMIM:245348 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairmen... |
ORPHA:363400 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... |
OMIM:610217 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Athetosis, Dystonia, Involuntary movements, Self-injurious behavior, Chorea, Hyperkinetic movemen... |
OMIM:617493 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... |
OMIM:168000 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Spastic tetraplegia, Hypertonia, Hypothyroidism, Akinesia |
OMIM:619147 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Irritability, Tongue fasciculations, Hypokinesia |
ORPHA:238329 |
Pelizaeus-Merzbacher Disease |
|
Dystonia, Head titubation, Short stature, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, ... |
OMIM:312080 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
Choreoacanthocytosis |
|
Dystonia, Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involu... |
OMIM:200150 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Short stature, Stereotypy |
OMIM:617862 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Choreoathetosis, Torticollis, Frequent falls, Ataxia, Limb dystonia |
OMIM:619054 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... |
OMIM:273050 |
Folinic Acid-Responsive Seizures |
|
Dystonia, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, Irritability, Broad-based gait, Diffi... |
ORPHA:79097 |
Developmental And Epileptic Encephalopathy 84 |
|
Dystonia, Babinski sign, Opisthotonus, Ptosis, Chorea, Epicanthus, Short palpebral fissure, Spast... |
OMIM:618792 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Limb hypertonia, Choreoathetosis, Ptosis, Cognitive impairment, Ataxia, Oculomotor apra... |
OMIM:617595 |
Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... |
OMIM:619317 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dementia, Anxiety, Dysmetria, Bradykinesia, Impaired tandem gait, Intention trem... |
OMIM:300623 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Akinesia |
OMIM:619334 |
Parkinson Disease 1, Autosomal Dominant |
|
Dystonia, Gait disturbance, Dementia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Hypokine... |
OMIM:168601 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Progressive neurologic deterioration, Tachycardia, Tremor, Pancrea... |
ORPHA:276608 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Goiter, Ventricular arrhythmia, Diabetes mellitus, Anxiety, Lethargy, Gai... |
ORPHA:254892 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Falls, Shuffling gait, Bradykinesia, Apathy, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Ptosis, Chorea, Upslanted palpebral fissure, Epicanthus, Lower ... |
OMIM:300260 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Limb hypertonia, Rigidity, Ptosis, Short stature, Myoclonus, Downslanted p... |
ORPHA:442835 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Chorea, Poor eye contact, Inability to walk, Spasticity |
OMIM:618557 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Arm dystonia, Clonus, Opisthotonus, Axial dystonia, Head titubation, Upper limb spastic... |
ORPHA:300605 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Unsteady gait... |
OMIM:604802 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, D... |
ORPHA:96 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... |
OMIM:300894 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Laryngeal dystonia, In... |
ORPHA:101110 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Short stature, Aggressive behavior, Stereotypy, Hyperactivity, Synophrys |
OMIM:615541 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Dementia, Inappropriate behavior, Tremor by anatomical site, Rigidity, Falls, Brady... |
ORPHA:99750 |
Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Dementia, Chorea, Apathy, Exaggerated startle response, Spastic tetraparesis... |
OMIM:272750 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature, Hypogonadism |
OMIM:312910 |
Pettigrew Syndrome |
|
Self-injurious behavior, Gait ataxia, Spasticity, Choreoathetosis |
OMIM:304340 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Paresthesia, Palpitations, Hyperinsulinem... |
ORPHA:97279 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
Oculomotor-Levator Synkinesis |
|
Abnormal eyelid morphology, Eyelid retraction, Ptosis |
OMIM:151610 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Short stature, Tremor, Ataxia, Hypogonadism, Irritability, Emotional lability, Decrease... |
OMIM:201100 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Intrauterine growth retardation, Akinesia |
OMIM:225790 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Positive perchlorate discharge test, Increased radioactive iod... |
ORPHA:95716 |
Mental Retardation, Autosomal Dominant 57 |
|
Short stature, Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus, Tip-toe gait, Anxiet... |
OMIM:618050 |
Atrial Standstill |
|
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... |
ORPHA:1344 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Ptosis, Abnormality of extrapyrami... |
ORPHA:275872 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... |
ORPHA:98763 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Poor eye contact, Thick eyebrow, Abnormal social behavior, Anxiety, Attention... |
ORPHA:444002 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Dystonia, Gait disturbance, Babinski sign, Inappropriate crying, Chorea, Bradykinesia, Resting tr... |
ORPHA:225147 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... |
OMIM:260300 |
Caribbean Parkinsonism |
|
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypoten... |
ORPHA:97355 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Postural hypotension with compensatory tachycardia, Attention deficit hyper... |
ORPHA:369873 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Riboflavin Transporter Deficiency |
|
Hypertension, Diabetes insipidus, Ptosis, Aggressive behavior, Myoclonus, Tremor, Ataxia, Hypogon... |
ORPHA:97229 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Tetraplegia, Fasciculations, Hypokinesia |
OMIM:300816 |
Wernicke-Korsakoff Syndrome |
|
Ataxia, Memory impairment, Ptosis |
OMIM:277730 |
Paroxysmal Kinesigenic Dyskinesia |
|
Athetosis, Dystonia, Involuntary movements, Writer's cramp, Chorea |
ORPHA:98809 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Clumsiness, Aggressive behavior, Hypokinesia, Ataxia, Tongue fasciculations |
OMIM:614707 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Limb hypertonia, Growth delay, Rigidity, Ptosis, Cerebral palsy, Cognitive impairment, ... |
ORPHA:70594 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Upslanted palpebral fissure, Aggressive behavior, Epicanthus, Telecanthus, Hyperac... |
OMIM:615286 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Ptosis, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Ptosis, Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal... |
OMIM:614831 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Ptosis |
OMIM:618637 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Choreoathetosis, Dysmetria, Ataxia, Spasticity |
OMIM:618088 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Ptosis, Frequent falls |
OMIM:618197 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia |
OMIM:614564 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Hypokinesia |
OMIM:618184 |
Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior, Short stature |
OMIM:276880 |
Alexander Disease |
|
Gait disturbance, Clonus, Hypertension, Ptosis, Self-injurious behavior, Chorea, Depression, Trem... |
ORPHA:58 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Clumsiness, Growth delay, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid... |
ORPHA:90674 |
Developmental And Epileptic Encephalopathy 64 |
|
Dystonia, Limb hypertonia, Chorea, Epicanthus, Hemiparesis, Inability to walk |
OMIM:618004 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Impaired distal proprioception, Rigidity, Ptosis, Steppage gait, Mitral regurgitation, Bradykines... |
OMIM:258450 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
X-Linked Adrenoleukodystrophy |
|
Clumsiness, Gait disturbance, Paralysis, Adrenal insufficiency, Dementia, Aggressive behavior, Co... |
ORPHA:43 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Involuntary movements, Babinski sign, Limb hypertonia, Intrauterine growth retardation, Lower lim... |
ORPHA:565624 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Deficit in phonologic short-term memory, Gait imbalance, Bilateral ptosis, Cardiomyopathy, Limb d... |
ORPHA:329336 |
Salt And Pepper Developmental Regression Syndrome |
|
Myoclonus, Irritability, Choreoathetosis |
OMIM:609056 |
Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Syncope, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia, Somatic sens... |
OMIM:603472 |
Infantile Convulsions And Choreoathetosis |
|
Athetosis, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Paroxysmal dyskinesia |
ORPHA:31709 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Abnormal T-wave, Thin eyebrow, Rigidity, Choreoathetosis, Cardiac conduction abnormalit... |
ORPHA:2131 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Cardiomyopath... |
OMIM:212138 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Spastic gait, Cognitive impairment, Spasti... |
OMIM:616795 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Dystonia, Babinski sign, Hypertrophic cardiomyopathy, Short stature, Ptos... |
OMIM:252011 |
4H Leukodystrophy |
|
Dystonia, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyramidal ... |
ORPHA:289494 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Gait disturbance, Choreoathetosis, Steppage gait, Frequent falls, Positive Romberg sign, Distal s... |
ORPHA:206594 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy, Dystonia, Growth delay, Choreoathetosis, Chorea, Hemiplegia/hemiparesis |
ORPHA:289916 |
Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Spasticity, Choreoathetosis |
OMIM:617065 |
Ptosis-Vocal Cord Paralysis Syndrome |
|
Severe short stature, Ptosis, Hemiplegia |
ORPHA:2997 |
Progressive Supranuclear Palsy |
|
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synapti... |
ORPHA:683 |
Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Ptosis, Dysmetria, Hand tremor, Fasciculations, Intention tremor, ... |
ORPHA:276198 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Dystonia, Growth delay, Choreoathetosis |
OMIM:614932 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia, Impulsivity |
OMIM:619028 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Babinski sign, Ptosis, Frontal lobe dementia, Ataxia, Frontotemporal dementia, Parkinsonism |
OMIM:615911 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Dystonia, Telangiectasia, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, Dysd... |
OMIM:604391 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... |
OMIM:619580 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Ataxia, Ptosis |
OMIM:615917 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Hyperactivity,... |
ORPHA:228360 |
Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... |
ORPHA:726 |
Oculopharyngeal Muscular Dystrophy |
|
Progressive ptosis, Gait disturbance |
OMIM:164300 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Babinski sign, Ptosis, Cognitive impairment, Ataxia, Right bundle branch block, Unsteady gait, Ab... |
OMIM:616479 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Dystonia, Short stature, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticit... |
ORPHA:178469 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Bradycardia, Hypertonia |
OMIM:614498 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia,... |
OMIM:213200 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Inability ... |
OMIM:618877 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Bilateral ptosis, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Diffi... |
ORPHA:330050 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Impaired distal proprioception, Ptosis, Loss o... |
ORPHA:137898 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... |
OMIM:617145 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Ptosis |
OMIM:614750 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Dementia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinsonism, Spastic pa... |
ORPHA:329284 |
Spinocerebellar Ataxia 1 |
|
Impaired proprioception, Babinski sign, Paresthesia, Impaired distal tactile sensation, Impaired ... |
OMIM:164400 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia, Stereotypy |
OMIM:239500 |
Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:98933 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Growth delay, Short stature, Ptosis, Spastic tetraparesis, Inability to walk |
ORPHA:438178 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Choreoathetosis, Aggressive behavior, Progressive neurologic deterio... |
OMIM:300438 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Babinski sign, Growth delay, Progressive truncal ataxia, Ptosis, Dysmetria, Short stature, Spasti... |
ORPHA:363429 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ptosis, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
Classic Phenylketonuria |
|
Growth delay, Paraplegia, Self-injurious behavior, Tremor, Hypertonia, Hemiplegia, Mental deterio... |
ORPHA:79254 |
Hypermanganesemia With Dystonia 2 |
|
Dystonia, Gait disturbance, Babinski sign, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
Myopathy, Congenital, Compton-North |
|
Akinesia |
OMIM:612540 |
Glycine Encephalopathy |
|
Aggressive behavior, Myoclonus, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Lower limb spa... |
ORPHA:206443 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia, Hypokinesia |
OMIM:619063 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Ptosis, Choreoathetosis, Inability to walk, Spasticity |
OMIM:617664 |
Metachromatic Leukodystrophy |
|
Dystonia, Gait disturbance, Babinski sign, Chorea, Spastic tetraplegia, Tetraplegia, Ataxia, Emot... |
OMIM:250100 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Opisthotonus, Choreoathetosis, Spastic tetraparesis, Inability to walk, Generalized dys... |
OMIM:619653 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Gait disturbance, Dementia, Choreoathetosis, Intention tremor, Slurred speech, Attention deficit ... |
ORPHA:157850 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
Nasu-Hakola Disease |
|
Chorea, Frontal lobe dementia, Oculomotor apraxia, Irritability, Disinhibition, Spasticity, Memor... |
ORPHA:2770 |
Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Incoor... |
ORPHA:209905 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Waddling gait, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity, Mental d... |
OMIM:609260 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus, Ptosis |
OMIM:617235 |
Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Axial dyston... |
ORPHA:227510 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Abnormality of extrapyramidal motor function, Choreoathetosis |
OMIM:301020 |
Landau-Kleffner Syndrome |
|
Frequent falls, Steppage gait, Aggressive behavior, Social and occupational deterioration, Speech... |
ORPHA:98818 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Short stature, Self-mutilation, Stereotypy, Tremor, Myoc... |
ORPHA:457240 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Ptosis, Dysmetria, Cognitive impairment, Myoclonus, Spastic ataxia, Ataxia, Oculomotor ... |
OMIM:614487 |
Marcus Gunn Phenomenon |
|
Congenital ptosis, Unilateral ptosis |
OMIM:154600 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Classic Galactosemia |
|
Clumsiness, Dystonia, Gait disturbance, Postural tremor, Gait imbalance, Decreased serum insulin-... |
ORPHA:79239 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Lichtenstein-Knorr Syndrome |
|
Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Schimke X-Linked Mental Retardation Syndrome |
|
Growth delay, Spasticity, Choreoathetosis |
OMIM:312840 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
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Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Highly arched eyebrow, Short stature, Cerebral palsy, Bilateral ptosis, Upslanted palpebral fissu... |
ORPHA:352490 |
Parkinsonism With Spasticity, X-Linked |
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Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
Combined Oxidative Phosphorylation Deficiency 1 |
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Intrauterine growth retardation, Poor eye contact, Hypokinesia, Hypertonia, Spasticity |
OMIM:609060 |
Leukodystrophy, Hypomyelinating, 4 |
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Progressive spasticity, Babinski sign, Choreoathetosis |
OMIM:612233 |
Jalili Syndrome |
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Carious teeth, Amelogenesis imperfecta |
OMIM:217080 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Gait disturbance, Hypertension, Dementia, Inertia, Rigidity, Anxiety, Dysmetria, Bradykinesia, In... |
ORPHA:93256 |
Late-Onset Junctional Epidermolysis Bullosa |
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Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
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Dystonia, Babinski sign, Ptosis, Ataxia, Irritability, Lethargy |
OMIM:618226 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Dysmetria, Unsteady gait, Truncal ataxia, Tremor |
OMIM:616127 |
Pediatric-Onset Graves Disease |
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Mood swings, Hypertension, Increased circulating T4 level, Intrauterine growth retardation, Atria... |
ORPHA:525731 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Depression, Difficulty walking |
ORPHA:306669 |
Poliomyelitis |
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Paralysis, Hypertension, Hypovolemic shock, Paresthesia, Low self esteem, Diminished movement, Fa... |
ORPHA:2912 |
Pontocerebellar Hypoplasia, Type 2B |
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Dystonia, Clonus, Babinski sign, Limb hypertonia, Opisthotonus, Chorea, Extrapyramidal dyskinesia... |
OMIM:612389 |
Leigh Syndrome With Leukodystrophy |
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Hypertrophic cardiomyopathy, Dystonia, Ptosis, Progressive cerebellar ataxia, Emotional lability,... |
ORPHA:255241 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Oromotor apraxia, Ptosis, Pulmonary arterial hypertension, Downslanted palpebral fissures, Repeti... |
ORPHA:391372 |
Behr Syndrome |
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Progressive spasticity, Gait disturbance, Babinski sign, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
Xeroderma Pigmentosum, Complementation Group G |
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Tremor, Ataxia, Growth delay, Spasticity |
OMIM:278780 |
Spinocerebellar Ataxia 23 |
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Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... |
OMIM:610245 |
Cleft Lip/Palate |
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Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Dpagt1-Cdg |
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Intracranial hemorrhage, Prolonged QT interval, Aggressive behavior, Tremor, Stereotypical body r... |
ORPHA:86309 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Gait disturbance, Hypertension, Short stature, Progressive neurologic deterioration, Tremor, Hype... |
ORPHA:1192 |
Choreoacanthocytosis |
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Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Phonic tics, Irr... |
ORPHA:2388 |
Gand Syndrome |
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Narrow palpebral fissure, Inappropriate laughter, Tics, Hyperactivity, Blepharophimosis |
OMIM:615074 |
Paroxysmal Extreme Pain Disorder |
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Tachycardia, Bradycardia, Impaired pain sensation |
OMIM:167400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Impaired proprioception, Dystonia, Impaired distal tactile sensation, Chorea, Conjunctival telang... |
OMIM:606002 |
Atrial Fibrillation, Familial, 18 |
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Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
Pycnodysostosis |
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Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu... |
OMIM:265800 |