Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Dominant 56 |
|
Hearing impairment |
OMIM:615629 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Dominant 65 |
|
Vestibular dysfunction, Progressive hearing impairment |
OMIM:616044 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Progressive sensorineural hearing impairment |
OMIM:208850 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Usher Syndrome, Type Id |
|
Vestibular dysfunction, Hearing impairment |
OMIM:601067 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Episodic Ataxia Type 5 |
|
Vertigo, Ataxia, Truncal ataxia |
ORPHA:211067 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Motor deterioration, Impaired propriocept... |
ORPHA:98765 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Vertigo, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Deafness, Autosomal Recessive 12 |
|
Prelingual sensorineural hearing impairment |
OMIM:601386 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Hand tremor, Steppage gait |
OMIM:300905 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... |
ORPHA:101007 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Ataxia, Cognitive impairment, Mental deterioration, Spastic paraplegia, Upper motor neuron dysfun... |
ORPHA:306617 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment, Adult onset sensorineural hearing impairment |
OMIM:212710 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
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 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Myoclonus, Ataxia |
OMIM:159800 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Hearing impairment, Gait ataxia, Spasticity |
ORPHA:217012 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity |
DECIPHER:8 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia |
OMIM:615945 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Apathy, Vomiting, Abnormal head movements, Vertigo, Irritability |
ORPHA:71518 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Inability to walk |
OMIM:606053 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic paraparesis, Babinski sign, Optic atrophy, Emotional lability, Spastic ataxia |
OMIM:613672 |
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 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Irritability, Emotional lability, Abnormal pyramidal sign, Pa... |
ORPHA:216873 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait, Self-mutilation |
OMIM:614063 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Unsteady gait, Self-biting |
OMIM:619988 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional lability, Dysp... |
OMIM:128235 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... |
ORPHA:2589 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Attention deficit hyperactivity disorder, Motor tics |
OMIM:137580 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Parkinson Disease 22, Autosomal Dominant |
|
Constipation, Bradykinesia, Resting tremor, Gait disturbance, Tremor |
OMIM:616710 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... |
ORPHA:251282 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Apathy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short steppe... |
ORPHA:306692 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Attention deficit hyperactivity disorder |
OMIM:617863 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... |
ORPHA:363710 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Aggressive behavior, Paroxysmal dyski... |
OMIM:619150 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Anxiety, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunctio... |
ORPHA:401901 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... |
OMIM:612526 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Anxiety, Hemiparesis, Tremor |
OMIM:141500 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Polymyoclonus, Infantile |
|
Ataxia, Irritability, Myoclonus |
OMIM:263550 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, D... |
ORPHA:210571 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity |
ORPHA:356996 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Mental deterioration, M... |
OMIM:254800 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea, Dystonia |
OMIM:618760 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Involuntary movements, Spasticity, ... |
OMIM:617820 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Emotional lability, Abnormality of extrapyramidal motor... |
OMIM:615362 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Frontotemporal dementia, Abulia, Mental deterioration, Memory impairmen... |
ORPHA:275864 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Cognitive impairment, Jerk-locked premy... |
OMIM:607876 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Epilepsy, Progressive Myoclonic, 8 |
|
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... |
OMIM:616230 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Ataxia, Hyperlysinemia, Recurrent hand flapping, Tip-toe gait, Hyperammonemia,... |
ORPHA:3008 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials |
OMIM:618876 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Poor eye contact, Optic atrophy, Tremor, Spasti... |
OMIM:300983 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Gastroesophageal reflux, Self-injurious behavior, Hy... |
OMIM:618218 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus, Dementia |
OMIM:208700 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Anxiety, Parkinsonism, Craniofacial dystonia, Gait ata... |
ORPHA:71517 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Self-mutilation, Kinetic tremor, Waddling gait, Aggressive behavior, Macrotia |
OMIM:616269 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Brunner Syndrome |
|
Self-injurious behavior, Diarrhea, Kinetic tremor, Aggressive behavior, Low frustration tolerance |
OMIM:300615 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic tetany, Hyperphosphatemia, Pares... |
ORPHA:94090 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture, Falls |
OMIM:615883 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Chorea, Progressive extrapyramidal movement disorder, Athetosis,... |
ORPHA:382 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Hearing impairment, Ataxia |
ORPHA:1186 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia |
OMIM:616657 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Myoclonus, Anxiety, Tremor, Writer's cramp |
OMIM:159900 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Aggressive behavi... |
OMIM:600795 |
Usher Syndrome, Type Iiib |
|
Hearing impairment, Ataxia, Optic disc pallor, Truncal ataxia |
OMIM:614504 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Fragile X Syndrome |
|
Poor eye contact, Hyperactivity, Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Mental deterioration, Tremor, Difficulty walking, Emotional lability, Lower l... |
ORPHA:206443 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Hearing impairment, Ataxia |
ORPHA:101075 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Apathy,... |
ORPHA:240085 |
Hypocalcemia, Autosomal Dominant 2 |
|
Paresthesia, Hypocalcemia |
OMIM:615361 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dysphagia, Dystonia, Irritability |
OMIM:261630 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Tremor, Adult onset sensorineural hearing i... |
ORPHA:1368 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Anxi... |
OMIM:604326 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Anxiety, Chorea, Tremor, Gait ataxia, Dysphagia, ... |
OMIM:618093 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dementia |
OMIM:125370 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Hearing impairment, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Gait dist... |
OMIM:125250 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Par... |
OMIM:619725 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Myopathy, Spheroid Body |
|
Dysphagia, Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly ... |
OMIM:609425 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cognitive impairment, EEG abno... |
ORPHA:157941 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Extrapyramidal muscular rigidity, Leukocytosis, Oculogyric crisis, ... |
ORPHA:94093 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... |
OMIM:617145 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Happy demeanor, Limb ataxia, Poor ... |
OMIM:617695 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Myoclonus, Truncal ataxia, Cogw... |
OMIM:607346 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Hearing impairment, Ataxia |
ORPHA:101078 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... |
ORPHA:2590 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Aggressive behavior, Paresthesia, Paroxys... |
ORPHA:98811 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Constipation, Abnormality of extrapyramidal motor function, Vomit... |
ORPHA:255 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... |
OMIM:601098 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Dysphagia, Dys... |
OMIM:261640 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hypocalcemia |
ORPHA:163693 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Anxiety, Rigidity, Chorea, Dystonia, Irritability |
OMIM:606438 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Abnormal nervous system electrophysiology, Dysmetria, Dysdiadochokinesis, Myo... |
OMIM:256731 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity |
OMIM:615924 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Anxiety,... |
OMIM:615157 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Acute Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Neonatal hyperbilir... |
ORPHA:529808 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination |
OMIM:617182 |
Huntington Disease-Like 1 |
|
Dysmetria, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination, Dementia |
OMIM:603218 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Cognitive impairment, Babinski sign, Chorea, Optic atrophy, Spasticity, Abnormality of ex... |
OMIM:258501 |
Spinocerebellar Ataxia, X-Linked 1 |
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Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Impaired social interactions, Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Chorea, Benign Familial |
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Chorea |
OMIM:215450 |
Primary Dystonia, Dyt2 Type |
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Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Spinocerebellar Ataxia 44 |
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Ataxia, Dysmetria, Dysdiadochokinesis, Tinnitus, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hypertonia, Ataxia, Failure to thrive, Myoclonus, Spasticity, Hyponatremia |
OMIM:618426 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Distal sensory impa... |
OMIM:601455 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Mental deterioration, Myoclonus, Anxiety, Difficulty walking |
OMIM:619191 |
Urocanase Deficiency |
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Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Deafness, Autosomal Dominant 80 |
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Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
Spinocerebellar Ataxia, X-Linked 4 |
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Tremor, Ataxia, Abnormal pyramidal sign, Dementia |
OMIM:301840 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Adult Krabbe Disease |
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Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... |
ORPHA:206448 |
Dystonia 27 |
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Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Huntington Disease-Like 3 |
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Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ext... |
ORPHA:157946 |
Usher Syndrome Type 3 |
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Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Inability to walk, Fasciculations, Gait disturbance, Tremor, Dysphagia, Tongue fasciculations |
ORPHA:276435 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... |
ORPHA:95433 |
Developmental And Epileptic Encephalopathy 30 |
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Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
Parkinson Disease 17 |
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Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Autism, Susceptibility To, X-Linked 2 |
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Motor stereotypy, EEG abnormality |
OMIM:300495 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Ataxia, Constipation, Bradykinesia, Irritability, Myoclonus, Babinski sign, Parkinsonism, Rigidit... |
ORPHA:101150 |
Dystonia 3, Torsion, X-Linked |
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Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Pick Disease Of Brain |
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Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Diminished motivation, Irr... |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
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Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia |
OMIM:615541 |
Deafness, Autosomal Dominant 64 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
Deafness, Autosomal Dominant 72 |
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Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
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Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
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Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Cho... |
OMIM:618317 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Branchiootic Syndrome 1 |
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Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Myoclonic-Atonic Epilepsy |
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Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Parkinson Disease 19A, Juvenile-Onset |
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Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
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Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Spinocerebellar Ataxia 23 |
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Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia |
OMIM:610245 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
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Motor stereotypy, Anxiety, Chronic constipation, Spastic ataxia |
OMIM:618906 |
Tremor, Hereditary Essential, 1 |
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Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Dystonia 16 |
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Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... |
OMIM:612067 |
Intellectual Developmental Disorder, X-Linked 101 |
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Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
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Progressive cerebellar ataxia, Spastic paraparesis, Emotional lability, Myoclonus, Babinski sign,... |
ORPHA:254343 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... |
ORPHA:79299 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
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Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears, ... |
OMIM:619717 |
Spinocerebellar Ataxia Type 28 |
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Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Usher Syndrome Type 1 |
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Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231169 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, S... |
ORPHA:3077 |
Episodic Ataxia, Type 5 |
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Ataxia, EEG with spike-wave complexes, Myoclonus, Truncal ataxia, EEG with generalized spikes, Ve... |
OMIM:613855 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Myoclonic... |
ORPHA:94089 |
Deafness, Autosomal Dominant 16 |
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Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
Gabriele-De Vries Syndrome |
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Abnormal pinna morphology, Tremor, Waddling gait, Posteriorly rotated ears, Dystonia |
OMIM:617557 |
Nystagmus, Hereditary Vertical |
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Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
Alpha-Heavy Chain Disease |
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Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
X-Linked Spinocerebellar Ataxia Type 3 |
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Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
Childhood Disintegrative Disorder |
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Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... |
ORPHA:168782 |
Atypical Rett Syndrome |
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Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotyp... |
ORPHA:3095 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Xq28 (MECP2) duplication |
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Motor stereotypy, Inability to walk, Constipation, Gastroesophageal reflux, Anxiety, Progressive ... |
DECIPHER:45 |
Pseudohypoaldosteronism, Type Iib |
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Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Developmental And Epileptic Encephalopathy 107 |
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Motor stereotypy |
OMIM:620033 |
Autoimmune Hypoparathyroidism |
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Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Myoclonic spasms, Hypocalcemic ... |
ORPHA:36913 |
Spinocerebellar Ataxia Type 14 |
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Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
Encephalopathy, Recurrent, Of Childhood |
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Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Bradykinesia, Resting tremor, Anxiety, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal adipose tissue morphology, Osteomalacia, Abno... |
ORPHA:93160 |
Lopes-Maciel-Rodan Syndrome |
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Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
Hyperphenylalaninemia, Bh4-Deficient, B |
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Irritability, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dysphag... |
OMIM:233910 |
Vitamin D-Dependent Rickets, Type 3 |
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Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hemiplegia, Hypertonia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, ... |
OMIM:267700 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Apathy, Babinski sign, Spasticity, Emotional lability, Dysphagia |
OMIM:612069 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Optic Atrophy 11 |
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Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements, Optic atrophy, Macroti... |
OMIM:617302 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... |
OMIM:619738 |
Spastic Paraplegia 78, Autosomal Recessive |
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Ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Babinski sign, Parkinsonism, Falls... |
OMIM:617225 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Paraparesis, Ataxia, Gait disturbance, Tremor, Optic atrophy, Impaired pain sensation, Hearing im... |
ORPHA:99014 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
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Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Obesity, Hyperphagia, And Developmental Delay |
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Motor stereotypy, Obesity |
OMIM:613886 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Ataxia, Tremor, Choreoathetosis, Spasticity, Aggressive behavior, Oculomotor apraxia, Dystonia |
OMIM:612716 |
Abcd Syndrome |
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Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Epilepsy, Progressive Myoclonic, 6 |
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Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
|