Auditory Neuropathy, Autosomal Dominant 3 |
|
Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
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 Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
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 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
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 25 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Facial Paresis, Hereditary Congenital, 2 |
|
Facial palsy, Hearing impairment |
OMIM:604185 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Usher Syndrome, Type Id |
|
Abnormal vestibular function, Hearing impairment |
OMIM:601067 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
Ataxia-Deafness-Retardation Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia |
OMIM:208850 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
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 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Abnormal vestibular function, Hearing impairment |
OMIM:614934 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm... |
ORPHA:101007 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Hearing impairment, Gait ataxia, Tremor |
ORPHA:217012 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Episodic Ataxia Type 5 |
|
Vertigo, Truncal ataxia, Ataxia |
ORPHA:211067 |
Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait, Dysphagia |
OMIM:615945 |
Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Sensorineural hearing impairment, Scissor gait, Clonus |
ORPHA:101004 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Developmental And Epileptic Encephalopathy 92 |
|
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Lethargy, EEG abnormality, Ataxia, ... |
OMIM:617829 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Adult onset sensorineural hearing impairment, Distal sensory impairment, Ataxia |
OMIM:212710 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... |
OMIM:619565 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... |
OMIM:606777 |
Dystonia 11, Myoclonic |
|
Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors |
OMIM:159900 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia |
OMIM:213000 |
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 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Impaired pain sensation, Hand tremor, Sensorineural hearing impairment, Steppage gait, Impaired d... |
OMIM:300905 |
Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
Deafness, Autosomal Recessive 55 |
|
Abnormal vestibular function, Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Abnormal vestibular function, Hearing impairment |
OMIM:609946 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
Episodic Ataxia, Type 8 |
|
Ataxia, Slurred speech, Intention tremor, Episodic ataxia |
OMIM:616055 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300425 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... |
ORPHA:94122 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... |
ORPHA:464440 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
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 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
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 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
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 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, 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 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
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 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 |
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 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 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Head tremor, Impair... |
ORPHA:95433 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Hearing impairment, Distal sensory impairment |
OMIM:614369 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... |
ORPHA:401901 |
Dystonia 22, Adult-Onset |
|
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... |
OMIM:620456 |
Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia |
OMIM:276880 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait |
ORPHA:401840 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Hearing impairment, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Myoclonus, Progressive gait ataxia, Bilateral sensorineural hearing impairment, Intention tremor,... |
ORPHA:2589 |
Autism |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, EEG abnormality, Truncal ataxia, Motor st... |
OMIM:608636 |
Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... |
OMIM:615625 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Mohr-Tranebjaerg Syndrome |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal pyramidal... |
ORPHA:52368 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Self-biting, Unsteady gait |
OMIM:619988 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy |
OMIM:605388 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... |
OMIM:615127 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... |
ORPHA:320401 |
Spinocerebellar Ataxia Type 5 |
|
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech |
ORPHA:98766 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Hearing impairment, Tremor |
OMIM:312910 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Limb ataxia, Gait ataxia, Ataxia |
OMIM:117210 |
Deafness, Autosomal Recessive 12 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment |
OMIM:601386 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Olivopontocerebellar atrophy, EEG abnormality, Hypertonia, Ataxia |
ORPHA:2732 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Hearing impairment, Tremor, Abnormality of extrapyramidal motor function, Optic di... |
OMIM:165300 |
Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... |
ORPHA:284332 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Depression, Focal dystonia, Violent behavior, Chorea, Limb dystonia, T... |
ORPHA:216873 |
Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, EEG abnormality, Hypert... |
ORPHA:71277 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Dystonia 16 |
|
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... |
ORPHA:210571 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... |
OMIM:613608 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di... |
OMIM:617270 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... |
ORPHA:101108 |
Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
Dystonia With Cerebellar Atrophy |
|
Craniofacial dystonia, Torticollis, Dystonia, Dysphagia, Progressive cerebellar ataxia |
OMIM:611694 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... |
ORPHA:314978 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Hypertonia... |
ORPHA:1368 |
Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... |
OMIM:616948 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Deafness, Autosomal Dominant 76 |
|
Abnormal vestibular function, Positive Romberg sign, Sensorineural hearing impairment |
OMIM:618787 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Abnormal head movements, Chorea, Abnormality of extrapyramidal motor fun... |
ORPHA:382 |
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... |
OMIM:620482 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Myoclonus, Lethargy, Hypsarrhythmia, Spastic tetraparesis, Choreoathetosis |
OMIM:617065 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... |
ORPHA:101110 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar ataxia associated with quadrupedal gait, Cerebellar... |
OMIM:615268 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria... |
ORPHA:98762 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, T... |
ORPHA:98811 |
Episodic Kinesigenic Dyskinesia 2 |
|
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism, Myoclonus |
OMIM:606840 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... |
OMIM:611302 |
Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Impaired pain sensation, Hypogonadism, Hemiplegia/hemiparesis, Sensorineural... |
ORPHA:2815 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Hearing impairment, Impaired pain sensation, Tremor, Gait dis... |
ORPHA:101075 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation |
OMIM:141500 |
Central Neurocytoma |
|
Pain insensitivity, Depression, Paresthesia, Tinnitus, Babinski sign, Lethargy, Ataxia |
ORPHA:73256 |
Hyperprolinemia, Type I |
|
Aggressive behavior, EEG abnormality, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
Dystonia 23 |
|
Cerebellar atrophy, Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Tort... |
OMIM:614860 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Inappropriate laughter, Chorea, Dystonia, Aggressive behavior, Paroxysmal dyskine... |
OMIM:619150 |
Brunner Syndrome |
|
Self-injurious behavior, Aggressive behavior, Kinetic tremor, Impulsivity |
OMIM:300615 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Aplasia/Hyp... |
ORPHA:231169 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... |
OMIM:619742 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Apathy, Torticollis, Ataxia |
ORPHA:71518 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:618224 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... |
ORPHA:423275 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia, Abnormal brainstem morphology, Atrophy/Degeneratio... |
ORPHA:99852 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Gait disturbance, Anorexia |
ORPHA:79283 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Hypsarrhythmia, Tremor, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... |
ORPHA:101150 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... |
OMIM:604326 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Hearing impairment, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait di... |
ORPHA:101078 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In... |
OMIM:302500 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
Autosomal Spastic Paraplegia Type 72 |
|
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity |
ORPHA:401849 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, EEG abnormality, Agitation |
OMIM:617171 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... |
OMIM:616710 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... |
ORPHA:98763 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the eleventh cranial nerve, Functional abnormality of the inner ear, Somatic senso... |
ORPHA:268882 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Episodic Kinesigenic Dyskinesia 3 |
|
Dystonia, Involuntary movements, Choreoathetosis, Torticollis |
OMIM:620245 |
Dystonia 12 |
|
Depression, Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Dysphagia |
OMIM:128235 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... |
OMIM:607317 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Hearing impairment, Sensorineural hearing impairment, Profound sensorineural hearing impairment, ... |
OMIM:619196 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr... |
OMIM:617145 |
Spinocerebellar Ataxia 29 |
|
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... |
OMIM:117360 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Superficial Siderosis |
|
Cerebellar atrophy, Impaired pain sensation, Vertigo, Abnormality of the vestibulocochlear nerve,... |
ORPHA:247245 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor |
OMIM:608029 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Inappropriate laughter, Self-mutilation, Tremor, Aggressive behavior, Macrotia... |
OMIM:616269 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Paralysis, Lethargy, Distal sensory impairment |
OMIM:613710 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia |
OMIM:617584 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation |
OMIM:619651 |
Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... |
OMIM:615924 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Ataxia, Sensorineural hearing impairment |
ORPHA:231183 |
Chudley-Mccullough Syndrome |
|
Polymicrogyria, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Gray mat... |
OMIM:604213 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... |
OMIM:613641 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Hype... |
ORPHA:599373 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis |
OMIM:125370 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Recurr... |
OMIM:617862 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,... |
OMIM:608984 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... |
OMIM:158580 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... |
OMIM:613074 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
Huntington Disease-Like 1 |
|
Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoordination, Chorea, Gait ataxi... |
ORPHA:157941 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Apat... |
ORPHA:306692 |
Classic Galactosemia |
|
Depression, Incoordination, Speech apraxia, Postural tremor, Gait imbalance, Action tremor, Prima... |
ORPHA:79239 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T... |
OMIM:128100 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t... |
ORPHA:705 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations |
OMIM:615048 |
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Cerebellar atrophy, Spastic tetraparesis, Gait disturbance, Dystonia |
OMIM:620515 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Ataxia |
ORPHA:622 |
Susac Syndrome |
|
Somatic sensory dysfunction, Vertigo, Gait ataxia, Sensorineural hearing impairment, Tinnitus, Le... |
ORPHA:838 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... |
OMIM:125250 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia |
OMIM:224500 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... |
ORPHA:401820 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... |
OMIM:616127 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... |
OMIM:609425 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Sensory axonal neuropathy, Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear ... |
OMIM:300614 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Motor stereotypy, Self-mutilation |
OMIM:614063 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent... |
OMIM:615386 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, Gait... |
OMIM:610185 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Dysphagia, Se... |
OMIM:620221 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, EEG abnormality, Inflexible adherence to routines |
OMIM:300495 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... |
ORPHA:100973 |
Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Difficulty walking, Impaired tactile sensation, Loss of ambulation, Tetraple... |
ORPHA:206443 |
Spinocerebellar Ataxia 50 |
|
Froment sign, Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Postural tremor,... |
OMIM:620158 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system, Hearing impairment, Ataxia |
ORPHA:1186 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Oppositional defiant disorder, Dysmetria, Tremor, Impaired tandem gait, Lower limb spa... |
OMIM:619028 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Hearing impairment, T... |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Hearing impairment, Tremor,... |
OMIM:609260 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis |
ORPHA:228169 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... |
ORPHA:352641 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... |
ORPHA:276435 |
Early Myoclonic Encephalopathy |
|
Myoclonus, Lethargy, Hypsarrhythmia, EEG abnormality, Dysphagia |
ORPHA:1935 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, EEG abnormality, D... |
OMIM:617820 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... |
OMIM:604432 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Motor axonal neuropathy, Sensorineural hearin... |
OMIM:617519 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... |
OMIM:601596 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... |
ORPHA:284324 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Decreased nerv... |
OMIM:238970 |
Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... |
OMIM:620453 |
Glycine Encephalopathy 1 |
|
Myoclonus, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Spinocerebellar Ataxia Type 27 |
|
Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressi... |
ORPHA:98764 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturban... |
ORPHA:314632 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Myoclonus, Dysmetria, Lethargy, Head titubation, Ataxia, Truncal ataxia, Dystonia |
OMIM:250620 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
Cyclic Vomiting Syndrome |
|
Ataxia, Hearing impairment, Lethargy, Attention deficit hyperactivity disorder, Anorexia |
OMIM:500007 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Res... |
OMIM:615159 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia |
OMIM:618387 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinso... |
ORPHA:521406 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... |
OMIM:607483 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... |
OMIM:303110 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Hypsarrhythmia, Motor stereotypy |
OMIM:617830 |
Spinocerebellar Ataxia Type 28 |
|
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... |
ORPHA:101109 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... |
OMIM:618090 |
Severe Canavan Disease |
|
Optic atrophy, Spasticity, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Lethargy,... |
ORPHA:314911 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Hearing impairment, Progressive spastic paraplegia, Hand tremor, Lower... |
ORPHA:401830 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, Gait ataxia,... |
ORPHA:512260 |
Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Spasticity, Poor fine motor coordination, Inferior ce... |
ORPHA:96148 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Gait ataxia, Dystonia, Cerebellar hypoplasia, Ataxia, Trunc... |
OMIM:601238 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal ... |
OMIM:213600 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Spasticity, Broad-based gait, Acropar... |
ORPHA:206448 |
Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Depression, Resting tremor, Hearing impairment, Postural tremor, Ga... |
OMIM:300623 |
Huntington Disease-Like 1 |
|
Depression, Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Unsteady gait, Rest... |
OMIM:603218 |
Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi... |
OMIM:615157 |
Spinocerebellar Ataxia Type 11 |
|
Difficulty walking, Gait imbalance, Abnormal pyramidal sign, Dystonia, Dysphagia, Progressive cer... |
ORPHA:98767 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Depression, Falls, Neuromuscular dysphagia, Tremor, Rigidity, Dystonia, Parkinsonism with favorab... |
ORPHA:240085 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi... |
OMIM:607346 |
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... |
OMIM:607565 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Tort... |
ORPHA:71517 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... |
ORPHA:2590 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Spasticity, Falls, Hearing impairment, Difficulty walking, Distal sensory impairment, Sensorineur... |
OMIM:617882 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, Spasticity, Lethargy, Gait disturbance, Primary amenorrhea, Premature ovarian insu... |
OMIM:603896 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Truncal at... |
OMIM:616230 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... |
ORPHA:1175 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Cerebellar atrophy, Incoord... |
OMIM:302800 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Cerebellar atrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia... |
ORPHA:397946 |
Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function,... |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Action tremor, Obsessive-compulsive trait, EEG with polyspike wave complexes, A... |
OMIM:617665 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Hearing impairment, Hand tremor, Impaired vibra... |
OMIM:614409 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis... |
OMIM:619470 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Failure to thrive, Inability t... |
OMIM:617954 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic paraplegia, Optic atrophy, Abnormal circulating cholesterol concentration, Impaired vibra... |
OMIM:270800 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hearing impairment, Head... |
OMIM:613724 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spasticity, Gait ataxia, Dysmetria, Cerebellar hypoplasia, Spastic ataxia, Bilateral sensorineura... |
ORPHA:314603 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Chorea, EEG abnormality, Stereotypical hand wringing |
OMIM:618760 |
Episodic Ataxia Type 4 |
|
Incoordination, Frequent falls, Abnormal head movements, Ataxia |
ORPHA:79136 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculom... |
ORPHA:453521 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... |
OMIM:300423 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Attention deficit hyperactivity d... |
OMIM:619725 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Depression, Hand tremor, Vertigo, Postural tremor, Chorea, Parkinsonism, Apathy, Motor tics, Athe... |
OMIM:615483 |
Huntington Disease-Like 3 |
|
Spasticity, Broad-based gait, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, ... |
ORPHA:157946 |
Dystonia 37, Early-Onset, With Striatal Lesions |
|
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Dysph... |
OMIM:620427 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Ba... |
OMIM:619054 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:614322 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna mor... |
OMIM:300983 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Ataxia |
OMIM:619191 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... |
ORPHA:216866 |
Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Depression, Neuromuscular dysphagia, Resting tremor, Autonomic bladder dysfunct... |
ORPHA:227510 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
Atypical Rett Syndrome |
|
Spasticity, Loss of ambulation, Involuntary movements, Limb myoclonus, Inability to walk, Stereot... |
ORPHA:3095 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... |
ORPHA:53583 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... |
OMIM:610357 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Dysphagia, Choreoa... |
OMIM:233910 |
Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, EEG with spike-wave complexes, Myoclonus, Tremor, Loss of ambulation, Ataxia |
OMIM:614018 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Gait disturbance |
ORPHA:26 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Tremor, Ataxia |
OMIM:278780 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto... |
OMIM:619738 |
Deafness, Autosomal Recessive 77 |
|
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:613079 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Intenti... |
OMIM:224050 |
Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... |
OMIM:612067 |
Spinocerebellar Ataxia 44 |
|
Spasticity, Gait ataxia, Dysmetria, Tinnitus, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, A... |
OMIM:600795 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... |
ORPHA:99027 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, EEG with continuous slow activity, Abulia, Inappropriate behavior, Fascicul... |
ORPHA:275864 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:620174 |
Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Sensorineural hearing impairment, Decreased... |
OMIM:614559 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dy... |
OMIM:256731 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Lethargy, Tetraplegia, Hypertonia, Hyperactivity |
OMIM:274270 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Pro... |
ORPHA:139485 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... |
OMIM:609270 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis |
OMIM:261630 |
Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... |
OMIM:616719 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Low-set ears, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal... |
OMIM:618718 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, EEG abnormality, Hemiparesis |
OMIM:617900 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... |
OMIM:615528 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's ... |
OMIM:608105 |
Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Hearing i... |
ORPHA:276198 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Interictal epileptiform activity, Myoclonus, Tremor |
OMIM:615400 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Limb myoclonus, Somatic sensory dysfunction, Postural tremor,... |
OMIM:619862 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Focal EEG disch... |
ORPHA:3077 |
Roussy-Lévy Syndrome |
|