Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal auditory evoked potent... |
ORPHA:99852 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... |
ORPHA:231169 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... |
ORPHA:320401 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Apnea, Myoclonus, Cyanotic episode, Death in infancy, Secondary microcephaly |
OMIM:610992 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Tremor, Hemiballismus, Chorea |
ORPHA:494526 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Hemiparesis, Chorea, Central ... |
ORPHA:71277 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... |
OMIM:613162 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Abnormal corpus callos... |
OMIM:618709 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... |
OMIM:604213 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... |
ORPHA:240103 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:600116 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Leukoencephalopathy, Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Abnormal cerebr... |
OMIM:300660 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria,... |
ORPHA:251282 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... |
ORPHA:95433 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia |
OMIM:617830 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... |
OMIM:601596 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor |
ORPHA:210571 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Hydrocephalus, Microcephaly, Optic atrophy, Tremor, Spastic tetraparesis, Simpl... |
OMIM:619470 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Dysplastic corpus callosum, Microcephaly, Tetraparesis, Spasticity, Tongue fasciculations... |
OMIM:618276 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... |
OMIM:601455 |
Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Respiratory distress, Death in infancy |
OMIM:616341 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Cyanosis, Inspiratory stridor, Syringomyel... |
OMIM:207950 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, P... |
OMIM:617862 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Apnea, Aqueductal stenosis, Opisthotonus, C... |
ORPHA:1136 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Small basal ganglia, Hypertonia, Frontal cortical atrophy, Microcephal... |
ORPHA:621 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Upper motor ... |
ORPHA:206443 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology, Involuntary... |
ORPHA:238329 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Dystonia 7, Torsion |
|
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... |
OMIM:602124 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... |
ORPHA:65684 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity |
OMIM:615768 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... |
OMIM:270500 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Respiratory insuffici... |
OMIM:612069 |
Huntington Disease-Like 1 |
|
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Clumsiness, Poor fine motor coordin... |
ORPHA:157941 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Death in infancy, Pneumonia |
OMIM:254120 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Microcephaly, Acrocyanosis |
OMIM:302000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Microcephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the... |
OMIM:615282 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressive extrapyramid... |
ORPHA:382 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, C... |
ORPHA:101085 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Macrotia |
OMIM:615541 |
Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign, Babinski sign, T... |
ORPHA:206448 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology, Tremor, Frequent f... |
ORPHA:2590 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Tremor, Ataxia |
OMIM:619099 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Spasticity, Subcortical band heterotopia, Agenesis of corpus callosum |
OMIM:600348 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations, Frequent fal... |
OMIM:159950 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Cerebral atrophy, Microcephaly, Stereotypical hand wringing, Apneic episodes in infancy, Spastici... |
ORPHA:500545 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity |
ORPHA:363710 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... |
ORPHA:500166 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia |
OMIM:617695 |
Christianson Syndrome |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... |
ORPHA:85278 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity |
OMIM:600363 |
Gorham-Stout Disease |
|
Torticollis, Hearing impairment, Abnormality of the internal auditory canal |
ORPHA:73 |
Huntington Disease-Like 3 |
|
Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormali... |
ORPHA:157946 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking, Optic disc drusen |
OMIM:204000 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia |
OMIM:128235 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal mucociliary clearance, Lissence... |
OMIM:619466 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia |
OMIM:615010 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears, Abnormalit... |
ORPHA:544254 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria |
OMIM:606053 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... |
ORPHA:1145 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy |
OMIM:619690 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... |
OMIM:619150 |
Foxg1 Syndrome |
|
Motor stereotypy, Myoclonus, Abnormal respiratory system physiology, Hyperkinetic movements, Ster... |
ORPHA:561854 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hypertonia, Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Death in... |
OMIM:619302 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... |
ORPHA:1435 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor |
OMIM:210000 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Microcephaly, Cerebral atrophy, Spasticity |
OMIM:617393 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Involuntary movem... |
OMIM:617820 |
Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal |
ORPHA:207 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism |
OMIM:616361 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Cerebral atrophy, Large basal ganglia, Microcephaly, Cortical dysplasia, Polymi... |
ORPHA:88616 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity, Dystonia |
OMIM:617807 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... |
ORPHA:240085 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination |
OMIM:213200 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Facial palsy, Respiratory insufficiency, Abnormal motor nerve conduction ve... |
OMIM:614399 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... |
ORPHA:411986 |
Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Macrotia |
OMIM:617268 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Low-set ears, Speech apraxia |
OMIM:618205 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Cerebral cortical atrophy, Stereotypical han... |
OMIM:614104 |
Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Developmental And Epileptic Encephalopathy 107 |
|
Progressive microcephaly, Microcephaly, Motor stereotypy |
OMIM:620033 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Brain atrophy, Tremor, Low-se... |
OMIM:618342 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Brain atrophy, Cerebral atrophy, Tetraparesis, Optic di... |
OMIM:619260 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... |
ORPHA:87 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia |
OMIM:606438 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping |
OMIM:620021 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... |
ORPHA:90117 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypertonia, Microcephaly, Optic atrophy, Dystonia |
ORPHA:26792 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Gait ataxia, Motor stereotypy, Macrotia |
DECIPHER:45 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... |
ORPHA:352490 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Diffuse cerebral atro... |
ORPHA:3240 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Basal ganglia gliosis, Death in infancy, Neuronal loss in basal ganglia |
OMIM:604377 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Impaired pain sensation, Morphological abnormality of the midd... |
OMIM:182290 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia |
ORPHA:324588 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... |
OMIM:618218 |
Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Optic atr... |
ORPHA:33445 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia |
OMIM:261640 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Optic atrophy, ... |
OMIM:252650 |
Benign Familial Infantile Epilepsy |
|
Hypertonia, Cyanosis, Apnea, Limb myoclonus |
ORPHA:306 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism, Bradykinesia, Resting tremor |
OMIM:614251 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Hypertonia, Ataxia, Apnea, Chorea, Optic atrophy, Spastic tetraparesis, Fro... |
ORPHA:79097 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Microcephaly, Abnormal pyramidal sign, Optic atrophy, Abnormal cerebral white matter morp... |
OMIM:614947 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cough, Spasticity, Abnormal pattern of respiration, Dystonia |
ORPHA:77260 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Hearing impairment, Low-set ears, Tremor |
ORPHA:238750 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... |
OMIM:617145 |
Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Leukoencephalopathy, Intention tremor, Abnormal motor neuron morphology, Head tremor |
OMIM:613724 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping |
OMIM:615032 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Apnea, Cerebral atrophy, Hypoplasia of the corpus callosum, Tremor, Death in infancy,... |
OMIM:617248 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Cerebral cortical atrophy, Cerebral atrophy, Bilateral conductive hearing impai... |
OMIM:617802 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity |
OMIM:619028 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Synotia, Low-set, posteriorly rotated ears, Narrow internal au... |
ORPHA:990 |
Atypical Rett Syndrome |
|
Episodic tachypnea, Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrust... |
ORPHA:3095 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Microcephaly, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia |
OMIM:245348 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Microcephaly, Respiratory failure |
ORPHA:1832 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
Hsd10 Disease, Infantile Type |
|
Abnormal basal ganglia morphology, Cerebral atrophy, Poor coordination, Spastic diplegia, Microce... |
ORPHA:391428 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Microcephaly, Truncal ataxia |
OMIM:614063 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Babinski sign, Hypoplasia of the corpu... |
ORPHA:280763 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
Urocanic Aciduria |
|
Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Opisthotonus, Microcephaly, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Japanese Encephalitis |
|
Respiratory distress, Abnormal substantia nigra morphology, Tremor, Cogwheel rigidity, Dystonia, ... |
ORPHA:79139 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia |
OMIM:617435 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears |
OMIM:617808 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Ataxia, Clumsiness, Ankle clonus, Knee clonus, Facial palsy, Respiratory in... |
OMIM:211530 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hypertonia, Ataxia, Cerebral atrophy, Microcephaly, Myoclonus, Spasticity |
OMIM:618426 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Apnea, Dysplastic corpus callosum, Babinski sign, Abnormal cortical gyration... |
ORPHA:2524 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Dystonia, EEG abnormality, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Cerebral white matter atrophy, Optic atrophy, Death in infancy, Neonatal re... |
OMIM:615042 |
Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Apnea, Ataxia, Recurrent hand flapping, Opisthotonus, Microcephaly, Limb hypert... |
OMIM:619580 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Dysmetria |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Optic atrophy, Tremor, Spas... |
OMIM:300983 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Incoordination, Dystonia |
OMIM:618049 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality |
OMIM:239500 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity, Myoclonus |
OMIM:616494 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis, Limb myoclonus, Clonus |
ORPHA:1949 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Ataxia, Gait ataxia, Dysmetria |
OMIM:618387 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
Laryngeal Abductor Paralysis |
|
Microcephaly, Stridor, Vocal cord paralysis, Cyanosis |
OMIM:150260 |
Tick-Borne Encephalitis |
|
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Facial palsy, ... |
ORPHA:297 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Epis... |
OMIM:301790 |
Hsd10 Disease |
|
Ataxia, Focal white matter lesions, Spastic paraparesis, Microcephaly, Myoclonus, Rigidity, Optic... |
ORPHA:391417 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypertonia, Myoclonus, Hypoplasia of the corpus callosum, Cyanotic episode, Lateral ventricle dil... |
ORPHA:284417 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... |
OMIM:300580 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Spasticity, Rep... |
ORPHA:401777 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Hearing impairment |
OMIM:616351 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Intention tremor, Microcephaly, Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal cereb... |
OMIM:614407 |
D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Opisthotonus, Optic nerve hypoplasia... |
OMIM:220120 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... |
OMIM:619317 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia |
ORPHA:329284 |
Myopathy And Diabetes Mellitus |
|
Frequent falls, Babinski sign, Progressive cerebellar ataxia, Respiratory distress |
ORPHA:2596 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... |
OMIM:618877 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Microcephaly, Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:300934 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, B... |
ORPHA:794 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... |
OMIM:610921 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Apnea, Clumsiness, Episodic tachypnea, Cerebral atrophy, Poor fine motor coordi... |
ORPHA:79264 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Hemiparesis, Tremor, Optic disc pallor, Secondary microce... |
OMIM:619737 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment, Posteriorly... |
OMIM:618027 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media |
OMIM:617751 |
Nipah Virus Disease |
|
Respiratory distress, Tremor, Myoclonus, Cough |
ORPHA:99825 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Cerebral cortical atrophy, Exaggerated startle response, Microcephaly, Myoc... |
OMIM:618201 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ventricle dilatat... |
ORPHA:306669 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Clumsiness, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Postural tremor, Dystonia |
OMIM:619911 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypoplastic helices, Spasticity, Repet... |
ORPHA:391372 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... |
ORPHA:99750 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Hearing impairment, EEG abnormality |
OMIM:610883 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... |
ORPHA:250972 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Brain atrophy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears |
OMIM:616579 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia |
OMIM:233910 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... |
OMIM:613454 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
Encephalopathy, Ethylmalonic |
|
Ataxia, Petechiae, Babinski sign, Focal T2 hyperintense basal ganglia lesion, Death in infancy, A... |
OMIM:602473 |
Joubert Syndrome 23 |
|
Apnea, Dysplastic corpus callosum, Tachypnea |
OMIM:616490 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... |
ORPHA:89844 |
Atypical Juvenile Parkinsonism |
|
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... |
ORPHA:391411 |
Dravet Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cya... |
ORPHA:33069 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Optic atrophy, Tremor, Telangiectasia, Secondary microcephaly |
OMIM:608799 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Hypertonia, Ataxia, Apnea, Central hypoventilation, Basal ganglia gliosis, ... |
ORPHA:70474 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Pain insensitivity, Rigidity, Chorea, Progressive spasticity, Repetitiv... |
OMIM:300260 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Blepharospasm, Laryngeal dystonia, Dysdiadochokinesis, Upper l... |
ORPHA:98805 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia |
ORPHA:101075 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity,... |
OMIM:618917 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia |
ORPHA:289916 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle clonus, Pill-rolling... |
OMIM:612953 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Abnormal pyramidal sign, Polymi... |
OMIM:614833 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Microcephaly, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictiv... |
ORPHA:2257 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Cerebral atrophy, Death in childhood, Optic atrophy, Tremor, Choreoathetosis, Posterior a... |
OMIM:619422 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus |
OMIM:614018 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Cerebral atrophy, Respiratory insufficiency, Death in adolescence, Tremor, ... |
OMIM:615512 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Ataxia, Asthma, Crackles, Tachypnea, Wheez... |
OMIM:610978 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Leukoencephalopathy, Ataxia, Death in childhood, Myelopathy, Rigidity, Bradypnea, Te... |
OMIM:617186 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity |
OMIM:614307 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... |
ORPHA:261197 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Ataxia, Clumsiness, Cavum septum pellucidum, Intention tremor, Micr... |
ORPHA:209905 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Macrotia |
ORPHA:391307 |
Alazami Syndrome |
|
Motor stereotypy, Low-set ears, Stereotypical hand wringing |
ORPHA:319671 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment |
ORPHA:79155 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Eye poking |
OMIM:204100 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... |
OMIM:610913 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Craniofacial dystonia, Frequent falls, Diaphragmat... |
OMIM:620011 |
Tetanus |
|
Respiratory distress, Hypertonia, Opisthotonus, Abnormal autonomic nervous system physiology, Rig... |
ORPHA:3299 |
4H Leukodystrophy |
|
Striatal T2 hyperintensity, Ataxia, Dysmetria, Dysdiadochokinesis, Hypoplasia of the corpus callo... |
ORPHA:289494 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Repetitive co... |
ORPHA:66634 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Hearing impairment, Anterior creases of earlobe |
ORPHA:1727 |
Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... |
OMIM:123450 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
Noonan Syndrome |
|
Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... |
ORPHA:648 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, EEG abnormality, Ataxia |
ORPHA:2479 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebral cortical atrophy, Dysmetria, Babinski sign, Hypoplasia of the corpus callosum, D... |
OMIM:607694 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia |
ORPHA:70594 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Ataxia, Spastic paraparesis, Tachypnea, Optic atrophy, Spinal cord posterio... |
ORPHA:148 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal sign... |
ORPHA:363400 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary microcephaly, Spa... |
ORPHA:300570 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Abnormal lo... |
OMIM:614298 |
Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination |
OMIM:608768 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, EEG with frontal sharp slow ... |
ORPHA:457351 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
Oromandibular Dystonia |
|
Torticollis, Respiratory distress, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkine... |
ORPHA:93958 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia |
OMIM:614831 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Macrotia, Abnormality of peri... |
ORPHA:90321 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Axonal degeneration, Abnormality of extrapyramidal motor function, Babinski ... |
ORPHA:909 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hea... |
OMIM:619312 |
Riboflavin Transporter Deficiency |
|
Sleep apnea, Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Myo... |
ORPHA:97229 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Cerebral cortical atrophy, Optic atrophy, Progressive spasti... |
ORPHA:496641 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears |
OMIM:613174 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Ataxia, Intention tremor, Microcephaly, Abnormal pyramidal sign, Progres... |
OMIM:312080 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia |
ORPHA:101078 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Microcephaly, Oculogyric crisis, Hypopla... |
ORPHA:178469 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Spinocerebellar Ataxia 42 |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Spastic gait, Spastic ataxia |
OMIM:616795 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Titubation, Dysmetria |
OMIM:619405 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia |
OMIM:619435 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Protruding ear, Motor stereotypy |
ORPHA:261144 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Low-set, posteriorly rotated ears |
ORPHA:3306 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... |
ORPHA:454836 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Acute Interstitial Pneumonia |
|
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... |
ORPHA:79126 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Respiratory distress |
ORPHA:66637 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Cerebral atrophy, Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypertonia, Cerebral cortical atrophy, Cerebral atrophy, Opisthotonus, Micr... |
OMIM:619272 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia |
ORPHA:1170 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|