Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Urinary... |
OMIM:615625 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... |
OMIM:607152 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... |
OMIM:604805 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait... |
OMIM:611945 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Abnormal pyramidal sign, U... |
ORPHA:100994 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:605280 |
Deafness, Autosomal Recessive 2 |
|
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600060 |
Deafness, Autosomal Dominant 11 |
|
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Impaired vibration sensation at ankles, Sensorineural hearing impairment, Dysdiadochokinesis, Spa... |
ORPHA:101007 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Gait ataxia, Paresthesia, Urinary urgency, Spastic paraplegia, Myalgia, Babinski sign, Unsteady gait |
OMIM:619027 |
Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
Deafness, Autosomal Dominant 74 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618094 |
Deafness, Autosomal Dominant 56 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:619500 |
Deafness, Autosomal Recessive 94 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:618434 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:600974 |
Deafness, Autosomal Recessive 48 |
|
Abnormal vestibular function, Profound sensorineural hearing impairment |
OMIM:609439 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... |
OMIM:607565 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... |
OMIM:604187 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:600363 |
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 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia, Urinary bladder sphincter dysfunction |
ORPHA:284282 |
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 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:603563 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Spastic gait, Urinary urge... |
OMIM:613096 |
Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
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 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Gait ataxia, Ankle clonus, Limb ataxia, Ataxia, Babinski sign, Lower limb spasticity, Functional ... |
ORPHA:488594 |
Usher Syndrome, Type Ic |
|
Vestibular hypofunction, Congenital sensorineural hearing impairment |
OMIM:276904 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Spasticity, Impaired vibration sensation at ankles, Ankle clonus, Urinary bladder sphincter dysfu... |
ORPHA:100985 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Gait ataxia, Urinary incontinence, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Difficul... |
OMIM:616907 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
Deafness, Autosomal Recessive 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Abnormal pyramidal sign, S... |
ORPHA:447753 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Urinary incontinence, Tip-toe gait, Spastic gait, Parkinsonism, Ataxia, Spastic paraplegia, Spast... |
OMIM:613647 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:182600 |
Deafness, Autosomal Dominant 4B |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:614614 |
Deafness, Autosomal Recessive 101 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:615837 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Urinary incontinence, Postural tremor, Gait disturbance, Spastic paraplegia, Babinski sign, Lower... |
ORPHA:100988 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Progressive spastic paraplegia, Urinary incontinence, Urinary bladder sphincter dysfunction, Spas... |
ORPHA:306511 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Urinary bladder sphincter dysfunction, Postural tremor, S... |
ORPHA:401849 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Hypotension, Pollakisuria, Urinary bladder sphincter dysfunction, Parkinsonism, Rigi... |
ORPHA:93256 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... |
ORPHA:100989 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Urinary incontinence, Sensorineural hearing impairment, Spastic gait, Upper limb spasticity, Spas... |
OMIM:613206 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Spastic/hyperactive bl... |
OMIM:609041 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... |
ORPHA:444099 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Spastic gait... |
OMIM:614409 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Abnormal pyramidal sign, ... |
OMIM:616688 |
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 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 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency, Spastic gait, Spastic paraplegia |
OMIM:613364 |
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 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 Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
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 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Urinary incontinence, Spastic ataxi... |
OMIM:607259 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Progressive spastic paraplegia, Urinary incontinence, Impaired distal vibration sensation, Spasti... |
ORPHA:320365 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Truncal at... |
ORPHA:320391 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Impaired vibration sensation at ankles, Spasticity, Tip-toe gait, Pollakisuria, Spastic gait, Uri... |
ORPHA:447760 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:182601 |
Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Abnormality of the menstrual cycle, Nocturia, Abnormality of the b... |
ORPHA:37202 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Impaired distal vibration ... |
OMIM:604360 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Abnormal vestibular function |
OMIM:607821 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity... |
OMIM:213600 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Ankle clonus, Spastic gait, Urinary urgency, Spastic paraplegia, Babinski sign, Lower limb spasti... |
OMIM:610250 |
Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic at... |
OMIM:616795 |
Adult Polyglucosan Body Disease |
|
Urinary incontinence, Spasticity, Abnormal pyramidal sign, Urinary bladder sphincter dysfunction,... |
ORPHA:206583 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Urinary incontinence, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetr... |
OMIM:618093 |
Perineural Cyst |
|
Somatic sensory dysfunction, Impotence, Inability to walk, Low back pain, Anal pain, Male sexual ... |
ORPHA:65250 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Ankle clonus, Cognitive impairment, Pollakisuria, Dysdiadochokinesis, Enure... |
ORPHA:171629 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Female sexual dysfunction,... |
ORPHA:100993 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Sensorineural hearing impa... |
OMIM:270800 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Fragile X Tremor/Ataxia Syndrome |
|
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Poor fine motor coordinat... |
OMIM:300623 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Spinocerebellar Ataxia Type 19/22 |
|
Urinary incontinence, Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, ... |
ORPHA:98772 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Sandhoff Disease, Juvenile Form |
|
Urinary incontinence, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait... |
ORPHA:309162 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Urinary incontinence, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxi... |
OMIM:607136 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary incontinence, Ankle clonus, Dysdiadochokinesis, Urinary urgency, Ataxia, Spastic parapleg... |
OMIM:612319 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Ankle clonus, Tip-toe gait, Spastic gait, Rigidity, Urinary urgency, Gait disturbance, Babinski s... |
ORPHA:100984 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Urinary incontinence, Impaired tactile sensation, Torticollis, Upper limb spasticity, Spastic par... |
OMIM:619686 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Impotence, Impaired tacti... |
ORPHA:98 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Shuffling gait, Urinary bladder sphincter dysfunction, Urinary urgency, Spa... |
OMIM:300266 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Glutathionuria |
|
Urinary incontinence, Gray matter heterotopia, Dysdiadochokinesis, Glutathionuria, Tremor, Action... |
OMIM:231950 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor, Hearing impairment |
ORPHA:217012 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Gait ataxia, Spasticity, Spastic ataxia, Spastic dysarthria, Urinary urgency, Dysmetria, Bilatera... |
ORPHA:314603 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Urinary incontinence, Spasticity, S... |
ORPHA:352641 |
Syringomyelia, Noncommunicating Isolated |
|
Gait ataxia, Urinary incontinence, Paresthesia, Babinski sign, Neck pain, Lower limb spasticity, ... |
OMIM:186700 |
Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Difficulty walking, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence, Somatic sensory dysfunction, Rigidity, Gait disturbance, Ataxia, Tremor |
OMIM:603472 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
Spinocerebellar Ataxia 10 |
|
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Urinary urgency, ... |
OMIM:603516 |
Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Episodic abdominal pain, Spastic dysarthria, Urinary urgency, Babinski sign, Impaire... |
ORPHA:101111 |
Polyglucosan Body Neuropathy, Adult Form |
|
Urinary incontinence, Paresthesia, Neurogenic bladder, Gait disturbance, Spastic paraplegia, Tetr... |
OMIM:263570 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Abnormal pyramidal sign, Postural tremor, Dementia, Difficulty walking, Progressive cerebellar at... |
ORPHA:85292 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Upper limb spasticity, N... |
OMIM:609727 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
3-Methylglutaconic Aciduria, Type I |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Spastic tetraplegia, Ataxia, Failu... |
OMIM:250950 |
Intellectual Developmental Disorder, X-Linked 29 |
|
Urinary incontinence, Sensorineural hearing impairment, Babinski sign |
OMIM:300419 |
Huntington Disease-Like 3 |
|
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal ... |
OMIM:604802 |
Adult Krabbe Disease |
|
Hoffmann sign, Somatic sensory dysfunction, Urinary incontinence, Progressive spastic paraparesis... |
ORPHA:206448 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Resting tremor, Spastic tetraplegia, Parkinsonism, U... |
OMIM:617225 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Urinary bladder sphincter dysfunction, Spastic gait, Ataxia, Spastic paraplegia, Ba... |
OMIM:610357 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... |
OMIM:618612 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Hearing impairment, Mildly elevated creatine kinase |
OMIM:614369 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency, Upper limb spasticity, Gait disturbance, Limb ataxia, Spastic paraplegia, Babins... |
OMIM:618418 |
Huntington Disease-Like 3 |
|
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Pro... |
ORPHA:157946 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post... |
OMIM:183090 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Urinary incontinence, Spasticity, Myoclonus, Ataxia, Pachygyria |
OMIM:620094 |
Roussy-Lévy Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Postural tremor,... |
ORPHA:3115 |
Adrenoleukodystrophy |
|
Urinary incontinence, Impaired vibration sensation at ankles, Impotence, Hypogonadism, Urinary bl... |
OMIM:300100 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Chorea, Right bundle branch block, Tip-toe gait, Pollakisuria, Inability to walk, Reduced left ve... |
ORPHA:268 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Urinary incontinence, Spasticity, Fasciculations, Sensorineural h... |
ORPHA:464282 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Chiari Malformation Type I |
|
Gait ataxia, Urinary incontinence, Paresthesia, Babinski sign, Neck pain, Tinnitus, Lower limb sp... |
OMIM:118420 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Multiple Sclerosis, Susceptibility To |
|
Urinary incontinence, Spasticity, Paresthesia, Incoordination, Urinary hesitancy |
OMIM:126200 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... |
ORPHA:79262 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Spastic gait, Urinary urgency, Ataxi... |
OMIM:270700 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Urinary incontinence, Impaired distal vibration sensation, Urinary urgency, Titubati... |
ORPHA:98768 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Urinary incontinence, Spastic tetraparesis, Babinski sign |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence, Loss of ambulation, Distal sensory impairment, Gait disturbance |
OMIM:615284 |
Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait dist... |
ORPHA:363710 |
Hydrocephalus, Normal-Pressure, 1 |
|
Bowel incontinence, Urinary incontinence, Gait disturbance |
OMIM:236690 |
Foix-Alajouanine Syndrome |
|
Somatic sensory dysfunction, Female sexual dysfunction, Urinary incontinence, Paresthesia, Back p... |
ORPHA:79093 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Urinary incontinence, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Tr... |
OMIM:618877 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Impaired distal vibration sensation, Spasticity, Urinary retention, Pseudob... |
OMIM:616586 |
Pudendal Neuralgia |
|
Episodic abdominal pain, Somatic sensory dysfunction, Back pain, Paresthesia, Impotence, Pollakis... |
ORPHA:60039 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Female sexual dy... |
ORPHA:100999 |
3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Choreoathetosis, Failure to thrive... |
OMIM:617698 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... |
ORPHA:2589 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder, Tetraplegia |
ORPHA:100997 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... |
ORPHA:87884 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Epilepsy, Progressive Myoclonic 7 |
|
EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Tremor, Mental deterioration |
OMIM:616187 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Urinary incontinence, Gait apraxia, Spasticity, Abnormal pyramidal sign, Rigidity, Low back pain,... |
OMIM:600142 |
Spinocerebellar Ataxia Type 8 |
|
Gait ataxia, Urinary incontinence, Spasticity, Impotence, Rigidity, Spastic dysarthria, Limb atax... |
ORPHA:98760 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Myoclonus, Limb ataxia, Morning myoclonic jerks, Dementia, Ata... |
ORPHA:308 |
Siddiqi Syndrome |
|
Urinary incontinence, Sensorineural hearing impairment |
OMIM:618635 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Urinary incontinence, Spasticity, Shuffling gait, Parkinsonism, Rigidity, Gait disturbance, Hand ... |
ORPHA:289560 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Cognitive impairment, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, ... |
ORPHA:401901 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Myotonia, A... |
OMIM:615491 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Failure to thrive, Clonus, Slender... |
ORPHA:505216 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Progressive spastic parapl... |
ORPHA:171617 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Spasticity, Obesity, Inability to walk |
OMIM:619255 |
Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
Myopathy, spheroid body |
|
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration |
OMIM:182920 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Urinary incontinence, Hoffmann sign, Spastic gait, Resting tremor, Urinary urgency, ... |
OMIM:601162 |
Dopa-Responsive Dystonia |
|
Urinary incontinence, Inability to walk, Parkinsonism, Rigidity, Poor coordination, Abnormality o... |
ORPHA:255 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Rigidity, Myoclonus, Gait disturbance, Babinski sign |
OMIM:600795 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Frontotemporal dementia, Spasticity, Cognitive impairment, Pseudobulbar paralysis, Upper limb spa... |
ORPHA:100996 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of a... |
ORPHA:521406 |
Spinocerebellar Ataxia Type 42 |
|
Gait ataxia, Urinary incontinence, Impaired vibration sensation at ankles, Impotence, Spastic gai... |
ORPHA:458803 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremo... |
OMIM:615768 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... |
OMIM:614018 |
Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia, Hypertonia |
OMIM:264070 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... |
ORPHA:247234 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Urinary incontinence, Paresthesia, Sensorineural hearin... |
ORPHA:101085 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Elevated circulating creatin... |
ORPHA:276435 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Hyper... |
OMIM:615924 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Impaired vibration sensation in the lower limbs, Progressive spastic paraplegia, Spastic gait, Ur... |
ORPHA:171612 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Urinary incontinence, Spasticity, Tip-toe gait, Spasticity of facial muscles, Spasti... |
OMIM:205100 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dy... |
OMIM:612126 |
Autosomal Recessive Ataxia, Beauce Type |
|
Urinary incontinence, Spasticity, Ankle clonus, Clumsiness, Gait disturbance, Upper motor neuron ... |
ORPHA:88644 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Recurrent urinary tract in... |
OMIM:609033 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Parkinsonism, Rigidity, Limb d... |
ORPHA:216873 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Tip-toe gait, Spastic gait, Urinary urgency, Upper limb spasticity, Ataxia, Spastic paraplegia, B... |
OMIM:609195 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Urinary incontinence, Retrocollis, Tip-toe gait, Inability to walk, Spastic diplegia, Par... |
ORPHA:300605 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Spasticity, Impotence, Hemiparesis, Ataxia, Paraplegia, Tremor, Hearing imp... |
OMIM:105210 |
Spastic Ataxia 3, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Neurogenic bladder, Urinary urgency, Ataxia, Dysmetria, ... |
OMIM:611390 |
Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Abnormal circulating histidine concentration,... |
ORPHA:210128 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary incontinence, Urinary urgency |
OMIM:156310 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancement of the C-reflex, Difficulty walki... |
OMIM:613608 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Urinary bladder sphincter dysfunct... |
ORPHA:320401 |
Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Urinary incontinence, Pachygyria |
ORPHA:329329 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Poor fine motor coordination, EEG with generalized slow activity grade 4, Spasticity, Cog... |
ORPHA:79263 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Urinary incontinence, Spasticity, Abnormal pyramidal sign, Babinski sign, Fasciculations |
OMIM:602099 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
Primary Progressive Freezing Gait |
|
Urinary incontinence, Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Babinski sign, D... |
ORPHA:75567 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Impaired vibration sensation in the lower limbs, Percussion-induced rapid rolling muscle contract... |
ORPHA:324442 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Urinary urgency, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxi... |
OMIM:609270 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Hand tremor, Elevated circulating creatine kinase concentration... |
ORPHA:352675 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,... |
ORPHA:98763 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Increa... |
OMIM:619405 |
Marchiafava-Bignami Disease |
|
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Limb hypertonia, Hemiparesis, Rigidit... |
ORPHA:221074 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... |
ORPHA:101109 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor, Hearing impairment |
OMIM:312910 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Stepp... |
OMIM:618387 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Hoffmann sign, Crohn's disease, Cognitive impairment, Tip-toe gait, Ankle clonus, Urinary urgency... |
OMIM:619621 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Urinary incontinence, Spastic tetraplegia, Babinski sign, Spastic paraplegia, Tetraplegia |
OMIM:607225 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Babinski sign, Clonus, Bowel incontinence, Progressive cerebellar ataxia |
OMIM:618868 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Urinary incontinence, Spasticity, Tip-toe gait, Progressive gait ataxia, Clumsiness,... |
ORPHA:309256 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Spasticity, Apraxia, Myoclonus, Gait disturbance, Babinski sign |
OMIM:221770 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Dementia, Ataxia, Babinski ... |
OMIM:615362 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Urinary incontinence, Chorea, Resting tremor, Parkinsonism, Titubation, Gait disturb... |
ORPHA:225147 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired vibration sensation in the lower limbs, Poor fine motor coordination, Spastic ataxia, Pr... |
ORPHA:137898 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss of ambula... |
OMIM:256731 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Myotonia, Myotonia of the upper limb, Periodic hypokalemic paresis, Cold-se... |
ORPHA:684 |
Epilepsy, Progressive Myoclonic, 10 |
|
Urinary incontinence, Spasticity, Spastic ataxia, Spastic tetraplegia, Myoclonus, Ataxia, Progres... |
OMIM:616640 |
Spinocerebellar Ataxia 25 |
|
Abolished vibration sense, Urinary urgency, Oculomotor apraxia, Ataxia, Babinski sign, Impaired p... |
OMIM:608703 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... |
ORPHA:3216 |
Apnea, Central Sleep |
|
Urinary incontinence |
OMIM:207720 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Impaired distal vibration sensation, Ankle clonus, Paresthesia, Parkinsonism, Urinary urgency, Up... |
ORPHA:100991 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic ... |
ORPHA:466722 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dementia, Dysmetria, Head tremor, Axial dystonia, Action tremor... |
OMIM:604326 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... |
OMIM:601068 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor, Inability to walk |
OMIM:619561 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Gait ataxia, Sensorineural hearing impairment, Truncal ataxia, Urinary urgency, Hemiparesis, Epis... |
OMIM:601338 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Decreased motor nerve conduction velocity, Babinski sign, Decreased sensory nerve con... |
OMIM:609260 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... |
ORPHA:391417 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with... |
OMIM:607876 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Urinary bladder sphincter dysfunction, Paraparesis, Pain, Impaired distal proprioception, Sciatica |
ORPHA:231445 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Paresthesia, Impaired tactile sensation, Impaired proprioception, Pain inse... |
OMIM:243000 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Friedreich Ataxia |
|
Gait ataxia, Chorea, Poor fine motor coordination, Spasticity, Gait imbalance, Falls, Inability t... |
ORPHA:95 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Dysphagia, ... |
OMIM:261630 |
Spastic Paraplegia Type 2 |
|
Spasticity, Spastic gait, Abnormality of extrapyramidal motor function, Ataxia, Spastic/hyperacti... |
ORPHA:99015 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Female sexual dysfunction, Back pain, Progressive spastic paraparesis, Urin... |
ORPHA:139399 |
Unilateral Focal Polymicrogyria |
|
Poor fine motor coordination, Urinary incontinence, Hemiparesis, Spastic hemiparesis |
ORPHA:268947 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Functional abnormality of the bladder, Spastic paraplegia |
OMIM:300076 |
Episodic Ataxia Type 1 |
|
Tip-toe gait, Clumsiness, Poor coordination, Choreoathetosis, Myotonia, Nausea, Hypertonia |
ORPHA:37612 |
Metachromatic Leukodystrophy |
|
Chorea, Urinary incontinence, Spastic tetraplegia, Gait disturbance, Ataxia, Babinski sign, Tetra... |
OMIM:250100 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor |
ORPHA:101075 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Dementia, Dystonia, Bradykinesia |
OMIM:605909 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Upper motor neuron dysfunction, Babinski sign, Action tremor... |
ORPHA:99027 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Macrotia, Inability to walk, Waddling gait |
OMIM:616269 |
Amyotrophic Dystonic Paraplegia |
|
Bowel incontinence, Urinary incontinence, Spastic paraplegia |
OMIM:105300 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Urinary incontinence, Loss of ability to walk in first decade, Macrotia, Decreased body weight, H... |
OMIM:300243 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Limb myoclonus, Sensorineural hearing impairment... |
ORPHA:2590 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor, Hearing impairment |
OMIM:165300 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Hepatomegaly, Thrombocytopenia, Dystonia,... |
OMIM:615010 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Hypermanganesemia, Cirrhosis, Increased total iron binding capacity... |
OMIM:613280 |
Spinocerebellar Ataxia Type 10 |
|
Gait ataxia, Gait imbalance, EEG with generalized epileptiform discharges, Dysdiadochokinesis, Ur... |
ORPHA:98761 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Macrotia, Inability to walk, Progressive spasticity, Failure to thrive, Functional a... |
DECIPHER:45 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Back pain, Parkinsonism, Myalgia, Tremor, Difficulty walking, Frequent fall... |
ORPHA:329478 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Spasticity |
OMIM:613115 |
Spastic Paraplegia Type 7 |
|
Impaired vibration sensation in the lower limbs, Somatic sensory dysfunction, Abnormal pyramidal ... |
ORPHA:99013 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity |
ORPHA:101078 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Frequent fa... |
ORPHA:309263 |
Deafness, Autosomal Dominant 41 |
|
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Menorrhagia, Oligomenorrhea, Abnormality of the... |
ORPHA:2795 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Tremor, Freque... |
OMIM:616719 |
Cataract-Ataxia-Deafness Syndrome |
|
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor, H... |
ORPHA:1368 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... |
ORPHA:240094 |
Sneddon Syndrome |
|
Chorea, Hemiparesis, Hypertension, Intracranial hemorrhage, Dementia, Nephropathy, Tremor, Mental... |
ORPHA:820 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Ataxia, Dysmetria, Loss of ambula... |
OMIM:617916 |
Episodic Ataxia, Type 2 |
|
Paresthesia, Myotonia, Episodic ataxia, Progressive cerebellar ataxia, Dystonia |
OMIM:108500 |
Childhood Disintegrative Disorder |
|
Bowel incontinence, Urinary incontinence, Abnormal repetitive mannerisms |
ORPHA:168782 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, EEG with polyspike wave complexes, Truncal ataxia, Myoclonus, Tremor, EEG wi... |
OMIM:618587 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Urinary incontinence, Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Pro... |
ORPHA:309271 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Saccharopinuria |
|
Gait ataxia, Hyperlysinemia, Spastic diplegia, Abnormality of circulating enzyme level, Hyperammo... |
ORPHA:3124 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Tip-toe gait, Progressive spasticity, Gait disturbance, Impaired continence... |
ORPHA:512 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Tremor, Neo... |
ORPHA:79234 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... |
ORPHA:397946 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Gait d... |
ORPHA:101077 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary incontinence, Impotence, Parkinsonism, Rigidity, Urinary urgency, Ataxia, Babinski sign, ... |
OMIM:146500 |
Spinocerebellar Ataxia 1 |
|
Truncal ataxia, Babinski sign, Dysphagia, Spasticity, Decreased motor nerve conduction velocity, ... |
OMIM:164400 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Cognitive impairment, Inability to walk, Writer's cramp, Urinary urgency... |
OMIM:312080 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Memory impairment, Falls, Rigidity, Parkinsonism with favorable response... |
ORPHA:240085 |
Late-Infantile/Juvenile Krabbe Disease |
|
Upper motor neuron dysfunction, Difficulty walking, Frequent falls, Acroparesthesia, Neuromuscula... |
ORPHA:206443 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Intention tremor, Hypochromic microcytic... |
OMIM:301310 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Cardiac arrest, Tremor, Ataxia |
OMIM:618951 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Abnormality of the liver, Elevated circulating phytanic acid concentration, Hemipares... |
OMIM:614307 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Bowel incontinen... |
ORPHA:2704 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Paresthesia, Cerebral palsy, Gait disturbance, Congestive heart ... |
ORPHA:682 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Gait disturbance, Limb ataxia, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
Machado-Joseph Disease |
|
Spasticity, Urinary bladder sphincter dysfunction, Parkinsonism, Truncal ataxia, Rigidity, Abnorm... |
OMIM:109150 |
Peroxisome Biogenesis Disorder 14B |
|
Urinary incontinence, Progressive hearing impairment |
OMIM:614920 |
Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Hearing impairment |
OMIM:620158 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Sensorineural hearing impairment, Urinary urgency, Vocal cord paresis, Dist... |
OMIM:606071 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Spasticity, Spastic ataxia, Falls, Spastic gait,... |
OMIM:270550 |
Cln5 Disease |
|
Spasticity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Multifo... |
ORPHA:228360 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Tremor, Enhancemen... |
OMIM:615127 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Sandhoff Disease |
|
Episodic abdominal pain, Urinary incontinence, Spasticity, Exaggerated startle response, Impotenc... |
OMIM:268800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Urinary bladder sphincter d... |
ORPHA:64753 |
Acetazolamide-Responsive Myotonia |
|
Gait disturbance, Myotonia, Hypertonia, Dysphagia |
ORPHA:99736 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor,... |
OMIM:612716 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O... |
OMIM:208920 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... |
ORPHA:206594 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Poor fine motor coordination, Gastroesophageal reflux, Diarrhea, Bundle branch block, Myotonia, C... |
ORPHA:589821 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... |
OMIM:612067 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Myoclonus, Gait disturba... |
OMIM:168601 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Decreased motor nerve conduction velocity, Paraparesis, Gait disturbance, Hand trem... |
OMIM:302800 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Spasticity, Tip-toe gait, Ankle clonus, Inability to walk, Parkinsonism, Limb ... |
OMIM:617013 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Hy... |
ORPHA:96 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Spasticity, Blepharospasm, Bradykinesia, Abnormal pyramidal sign, Akinesia,... |
OMIM:234200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:213200 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia, EEG abnormality |
OMIM:617831 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Ataxia, Mildly elevated creatine kinase, Progressive extrapyramidal movem... |
ORPHA:401768 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Urinary incontinence |
OMIM:618402 |
Brody Disease |
|
Somatic sensory dysfunction, Myotonia, Percussion myotonia, Fasciculations |
OMIM:601003 |
Acute Transverse Myelitis |
|
Somatic sensory dysfunction, Urinary incontinence, Back pain, Paresthesia, Urinary bladder sphinc... |
ORPHA:139417 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Recurrent singultus, Paraplegia, Functional abnormality of the bladd... |
ORPHA:71211 |
Myotonia Fluctuans |
|
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Spasticity of facial muscles, Myoto... |
ORPHA:99734 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Cerebral hemorrhage, Gait disturbance,... |
ORPHA:542310 |
Spinocerebellar Ataxia Type 1 |
|
Chorea, Abnormal nerve conduction velocity, Gait imbalance, Abnormality of somatosensory evoked p... |
ORPHA:98755 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Freque... |
OMIM:159950 |
Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Chronic constipation, Gait disturbance, Ataxia, Babinski ... |
OMIM:210000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Cognitive impairment, Dysdiadochokinesis, Resting tremor, Apraxia, Par... |
OMIM:615157 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Paresthesia, Urinary retention, Respiratory paralysis, Dysuria, Abdominal p... |
OMIM:176000 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Urinary incontinence, Spasticity, Macrotia, Neurogenic bladder, Progressive spasticity, Cataplexy... |
ORPHA:496641 |
Cln3 Disease |
|
Memory impairment, Shuffling gait, Urinary bladder sphincter dysfunction, T-wave inversion, Ataxi... |
ORPHA:228346 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Gait disturbance, Hypertension, Nephropathy, Tremor, Progressive neurologic d... |
ORPHA:1192 |
Deafness, Autosomal Recessive 103 |
|