Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Babinski sign, Spastic paraplegia, Unsteady gait, Gait ataxia, Urinary urgency, Paresthesia, Myal... |
OMIM:619027 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:607152 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:604805 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:611945 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
ORPHA:100994 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:605280 |
Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
Deafness, Autosomal Dominant 11 |
|
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder,... |
ORPHA:101007 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear |
ORPHA:3230 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Lower limb spasticity, Low back pain, Urinary incontinence, Babinski sign, Impaired vibration sen... |
OMIM:603563 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Recessive 89 |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:613916 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Deafness, Autosomal Recessive 18B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614945 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
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 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 94 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:618434 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Parkinsonism, Babinski sign, Impaired vibrat... |
OMIM:604187 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impaired vibration sensa... |
OMIM:607565 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction, Limb ataxia, Gait ataxia |
ORPHA:284282 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Impaired vibrati... |
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 |
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 36, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:613096 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Lower limb spasticity, Low back pain, Urinary incontinence, Aggressive behavior, Babinski sign, I... |
OMIM:182601 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency 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 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Lower limb spasticity, Ataxia, Functional abnormality of the bladder, Babinski sign, Limb ataxia,... |
ORPHA:488594 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Usher Syndrome, Type Ic |
|
Congenital sensorineural hearing impairment, Vestibular hypofunction |
OMIM:276904 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Urinary urgency, Ankle clonus, Spasticity, Urinary ... |
ORPHA:100985 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spastic paraplegia, Dysmetria... |
OMIM:616907 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dy... |
OMIM:617145 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Urinary incontinence, Tremor, Sensorineural hearing impairment, Babinski sign, Imp... |
ORPHA:447753 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Spastic para... |
OMIM:613647 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Impaired vibration sensation in the l... |
OMIM:182600 |
Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Bowel incontinence, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykin... |
ORPHA:93256 |
Deafness, Autosomal Recessive 101 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:615837 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Myoclonus, U... |
ORPHA:306511 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Rigidity, Memory impairment, Urinary bladder sphincter dysfunction, Spastic gait... |
ORPHA:401849 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Urinary incontinence, Spast... |
ORPHA:100988 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Lower limb spasticity, Urinary incontinence, Babinski sign, Impair... |
OMIM:607259 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Distal sensory impairment, Urinary urge... |
OMIM:610250 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Urinary incontinence, Clonus, Babinski sign, Impaired vibration sensation ... |
ORPHA:100989 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Spastic/hyperactive bladder, Impaired v... |
OMIM:609041 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Babinski sign, Impaire... |
OMIM:614409 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Lower limb spasticity, Urinary incontinence, Progressive spastic paraparesis, Babinski sign, Impa... |
ORPHA:444099 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Unsteady gait, Abnormal pyramidal sign, Bab... |
OMIM:616795 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Impaired distal vib... |
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 Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
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 paraplegia, Spastic gait |
OMIM:613364 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Impaired distal vibration sensation, Impaire... |
OMIM:604360 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Lower limb spasticity, Broad-based gait, Abnormal sperm morphology, Ataxia, Urinary incontinence,... |
ORPHA:320391 |
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 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 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, Impaired Intellectual Development, 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 Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Urinary incontinence, Impaired distal proprioception, Impaired temperature... |
ORPHA:320365 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary retention, Impai... |
ORPHA:447760 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Aggressive behavior, Rigidity, Chor... |
OMIM:607136 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... |
ORPHA:37202 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Restlessness, Urinary incontinence, Babinski sign, Spastic paraplegia, Tet... |
OMIM:300266 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Distal sensory impairm... |
ORPHA:206583 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary incontinence, Parkinson... |
OMIM:300623 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Urinary incontinence, Abnormal pyramidal sign, Gait disturbance, Fascicul... |
ORPHA:309162 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Urinary incontinence, Spastic tetraparesis, Bowel in... |
ORPHA:171629 |
Perineural Cyst |
|
Urinary incontinence, Dissociated sensory loss, Neurogenic claudication, Retrograde ejaculation, ... |
ORPHA:65250 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Inappropriate b... |
OMIM:600795 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Urinary incontinence, Impaired ... |
OMIM:619686 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Urinary incontinence, Impaired distal proprioception, Sen... |
OMIM:270800 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, Impaired ... |
ORPHA:100993 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Unsteady gait,... |
ORPHA:98 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysphagia, Limb ata... |
OMIM:603516 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Urinary incontinence, Poor coordination, Slurred speech, Limb ataxia, C... |
ORPHA:98772 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Sensorineural hearing impairment, Babinski s... |
OMIM:613206 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Br... |
ORPHA:100984 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Spastic tetraparesis, Babinski sign, Spastic... |
OMIM:612319 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Hyperactivity, Urinary incontinence, Clonus,... |
OMIM:609727 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Urinary incontinence, Spastic tetraplegia, Athetosis, 3-Methylglutaconic aciduria, Spasti... |
OMIM:250950 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Intellectual Developmental Disorder, X-Linked 29 |
|
Sensorineural hearing impairment, Babinski sign, Testicular dysgenesis, Urinary incontinence |
OMIM:300419 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Urinary incontinence, Sensorineural hearing impairment, Babinski sign, Imp... |
ORPHA:352641 |
Huntington Disease-Like 3 |
|
Ataxia, Urinary incontinence, Bowel incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign,... |
OMIM:604802 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Spastic tetraparesis, Babinski sign, Gait ataxia, Dysphagia, Loss of ambula... |
OMIM:249900 |
Glutathionuria |
|
Urinary incontinence, Tremor, Gray matter heterotopia, Dysdiadochokinesis, Glutathionuria, Action... |
OMIM:231950 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Hearing impairment, Gait ataxia |
ORPHA:217012 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Urinary urgency, Progressive cerebellar ataxia, Spastic d... |
ORPHA:314603 |
Syringomyelia, Noncommunicating Isolated |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Unsteady gait, Gait ataxia, Paresthes... |
OMIM:186700 |
Chiari Malformation Type I |
|
Lower limb spasticity, Urinary incontinence, Neck pain, Unsteady gait, Babinski sign, Gait ataxia... |
OMIM:118420 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations |
OMIM:615048 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Adrenoleukodystrophy |
|
Incoordination, Urinary incontinence, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurre... |
OMIM:300100 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidi... |
OMIM:183090 |
3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, Clonus, Aggressive behavior, Choreoathetosis, 3-Methylglutaric aciduria, 3-... |
OMIM:617698 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Babinski sign, Gait ataxia, Urinary urgency, Progressive cerebellar atax... |
ORPHA:101111 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Polyglucosan Body Neuropathy, Adult Form |
|
Neurogenic bladder, Urinary incontinence, Spastic paraplegia, Distal sensory impairment, Gait dis... |
OMIM:263570 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Gait ataxia,... |
ORPHA:98768 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Myoclonus, Spasticity, Pachygyria |
OMIM:620094 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Inability to walk, Urinary incontinence |
OMIM:620368 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, Ankle clonus, Urinar... |
OMIM:610357 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Bowel incontinence, Cho... |
ORPHA:157946 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Urinary urgency, Bradykine... |
OMIM:618418 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Hearing impairment |
OMIM:614369 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... |
ORPHA:3115 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraple... |
OMIM:616586 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Urinary incontinence, Sensorineural hearing impairm... |
ORPHA:464282 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Inability to walk, Chorea, Right bundle branch block, Pollakisuria, Tip-toe gait, R... |
ORPHA:268 |
3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, Clonus, Aggressive behavior, 3-Methylglutaconic aciduria, Spasticity, Failu... |
ORPHA:505216 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Urinary incontinence, Babinski sign, Spastic paraplegia, Spastic tetraplegia, Tetraplegia, Dysphagia |
OMIM:607225 |
Multiple Sclerosis, Susceptibility To |
|
Incoordination, Urinary incontinence, Paresthesia, Spasticity, Urinary hesitancy |
OMIM:126200 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, S... |
OMIM:270700 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,... |
ORPHA:98760 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Hand tremor, Dys... |
ORPHA:289560 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... |
ORPHA:206448 |
Hydrocephalus, Normal-Pressure, 1 |
|
Gait disturbance, Urinary incontinence, Bowel incontinence |
OMIM:236690 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Loss of ambulation, Gait disturbance, Urinary incontinence, Distal sensory impairment |
OMIM:615284 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Urinary incontinence, Parkinsonism, Bowel incontinence, Tremor, Inability to walk, Rigidity, Head... |
OMIM:618877 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance... |
ORPHA:363710 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Neurogenic bladder, Somatic sensory dysfunction, Urinary incontinence, ... |
ORPHA:79093 |
Pudendal Neuralgia |
|
Back pain, Dyspareunia, Somatic sensory dysfunction, Abdominal colic, Dysuria, Vulvodynia, Episod... |
ORPHA:60039 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Low back pain, Ataxia, Urinary incontinence, Bowel incontinence, Rigidity, Gait apraxia, Abnormal... |
OMIM:600142 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder, Tetraplegia |
ORPHA:100997 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... |
ORPHA:100999 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin... |
ORPHA:2589 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... |
ORPHA:401901 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Urinary incontinence, Rigidity, Babinski sign, Dysphagia,... |
ORPHA:75567 |
Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus, Mental deterioration |
OMIM:616187 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G... |
ORPHA:458803 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
Siddiqi Syndrome |
|
Sensorineural hearing impairment, Urinary incontinence |
OMIM:618635 |
Baralle-Macken Syndrome |
|
Inability to walk, Spasticity, Urinary incontinence, Obesity |
OMIM:619255 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic je... |
ORPHA:308 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Aggressive behavior, Babinski sign, Inappropriate behavior, Gait disturbanc... |
OMIM:221770 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu... |
OMIM:615491 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Pachygyria, Abnormal repetitive mannerisms |
OMIM:606053 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Urinary incontinence, Babinski sign, Impaired vibration sensation in the l... |
ORPHA:171617 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffma... |
OMIM:601162 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnor... |
OMIM:239500 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Spastic tetraparesis, Head titubatio... |
OMIM:205100 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Frontotemporal dementia, Functional abnormal... |
ORPHA:100996 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal... |
OMIM:276880 |
Marchiafava-Bignami Disease |
|
Ataxia, Urinary incontinence, Aggressive behavior, Rigidity, Abnormal pyramidal sign, Gait ataxia... |
ORPHA:221074 |
Unilateral Focal Polymicrogyria |
|
Urinary incontinence, Aggressive behavior, Spastic hemiparesis, Hemiparesis, Poor fine motor coor... |
ORPHA:268947 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Clonus, Parkinsonism, Head titubation, Inabi... |
ORPHA:300605 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Inability to walk, Functional abnormality of the bladder, Gait ataxia, Progres... |
DECIPHER:45 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injuri... |
OMIM:613670 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Urinary incontinence, Clonus, Bowel incontinence, Babinski sign, Progressive cerebellar ataxia, D... |
OMIM:618868 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Enuresis, Nocturnal, 1 |
|
Enuresis nocturna |
OMIM:600631 |
Enuresis, Nocturnal, 2 |
|
Enuresis nocturna |
OMIM:600808 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifocal epileptiform ... |
ORPHA:599373 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Clumsiness, Focal dys... |
ORPHA:216873 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:171612 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Broad-based gait, Ataxia, Urinary incontinence, Impaired vibr... |
OMIM:609033 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... |
OMIM:609195 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder, Ataxia, Spastic paraplegia |
OMIM:620379 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Neurogenic bladder, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Loss of ambu... |
OMIM:611390 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, Bruxism, A... |
OMIM:619150 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign,... |
ORPHA:88644 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, ... |
ORPHA:466722 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Pachygyria, Urinary incontinence |
ORPHA:329329 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity |
OMIM:602099 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality of extrapyramidal mo... |
OMIM:615362 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsines... |
ORPHA:79263 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... |
ORPHA:90117 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Hand tremor... |
ORPHA:352675 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Myotonia, Writer's cramp, Fatigable weakness of distal limb muscles, Impaired ... |
ORPHA:324442 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Dementia, Gait disturbance, Cons... |
OMIM:616710 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... |
OMIM:618709 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Decreased body weight, Ataxia, Urinary incontinence, Bowel incontinence, Loss of ability to walk ... |
OMIM:300243 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, ... |
OMIM:105210 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Urinary urgency... |
OMIM:601338 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait... |
ORPHA:101109 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Severe temper tantrums, Urinary incontinence, Attention deficit hyperactivity disorder |
OMIM:618402 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Short attention span, Ataxia, Tremor, Rigidity, Postnatal... |
ORPHA:391417 |
Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp... |
OMIM:618387 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Limb dystonia, Intermittent diarrhea, Hypertrophic cardiomyopathy |
OMIM:620270 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Impaired vibratory sensation, Hoffmann sign, Babinski sign, Spastic paraplegia, Urinary urgency, ... |
OMIM:619621 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Encopresis, Clumsiness, Enuresis, ... |
ORPHA:66624 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Somatic sensory dysfunction, Hyperactivity, Paralysis, Aggres... |
ORPHA:43 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Myotonia, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Spastic/hyperactive bladde... |
ORPHA:137898 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... |
OMIM:609425 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe ga... |
ORPHA:309256 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Demen... |
OMIM:604326 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency, Lower limb spasticity, Bradykinesia, Attention deficit hyperactivity disorder |
OMIM:618878 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Step... |
OMIM:609260 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Spastic tetraplegia, Progressive cerebellar ataxia,... |
OMIM:616640 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Macrotia, Waddling gait |
OMIM:616269 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Spinocerebellar Ataxia 25 |
|
Ataxia, Impaired pain sensation, Babinski sign, Abolished vibration sense, Urinary urgency, Oculo... |
OMIM:608703 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph... |
OMIM:256731 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Spastic Paraplegia Type 7 |
|
Somatic sensory dysfunction, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation... |
ORPHA:99013 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Lower limb spasticity, Parkinsonism, Spastic paraparetic gait, Impaired distal vibration sensatio... |
ORPHA:100991 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Sensorineural hearing impairment, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis... |
OMIM:616291 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Addictive behavior, Lim... |
ORPHA:512 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Urinary incontinence, Impaired temperature sensation, Impaired proprioception... |
OMIM:243000 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Impaired pro... |
ORPHA:95 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Episodic Ataxia Type 1 |
|
Myotonia, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia, Nausea |
ORPHA:37612 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Paraparesis, Urinary bladder sphincter dysfunction, Pain, Sciatica |
ORPHA:231445 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Failure to thrive, Steroid-dependent nephrotic syndrome, Ur... |
OMIM:300912 |
Spastic Paraplegia Type 2 |
|
Ataxia, Bowel incontinence, Babinski sign, Spastic/hyperactive bladder, Abnormality of extrapyram... |
ORPHA:99015 |
Peroxisome Biogenesis Disorder 14B |
|
Hydrocele testis, Progressive hearing impairment, Urinary incontinence |
OMIM:614920 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Small for gestational age, Spastic paraplegia |
OMIM:300076 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Babinski sign, Dysmetr... |
ORPHA:98761 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, ... |
OMIM:261630 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... |
ORPHA:2590 |
Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Urinary incontinence, Bowel incontinence |
OMIM:105300 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Myalgia, Fasciculation... |
ORPHA:329478 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Dysesthe... |
ORPHA:139399 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... |
OMIM:617665 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Urinary incontinence, Bowel incontinence |
ORPHA:168782 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function, Hearing impairment |
OMIM:165300 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait distu... |
OMIM:250100 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... |
OMIM:619028 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Menorrhagia, Urinary retention, Oligom... |
ORPHA:2795 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Mental deterioration, M... |
ORPHA:240085 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Neuromuscular dysphagia, Loss of ambulati... |
ORPHA:206443 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... |
ORPHA:1368 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Dysp... |
OMIM:607346 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... |
OMIM:619470 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... |
ORPHA:240103 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... |
OMIM:616719 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Sneddon Syndrome |
|
Tremor, Chorea, Nephropathy, Hemiparesis, Intracranial hemorrhage, Hypertension, Dementia, Mental... |
ORPHA:820 |
Episodic Ataxia, Type 2 |
|
Myotonia, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia |
OMIM:108500 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Spasticity, Urinary incontinence |
OMIM:613115 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Impaired vibratory sensation, Low back pain, Pain insensitivity, Urinary incontinence, Impaired t... |
OMIM:608654 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Urinary bl... |
OMIM:164400 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, B... |
ORPHA:309263 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Poor coordination, Limb ataxi... |
OMIM:617695 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest |
OMIM:618951 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Chorea, Babinski sign, Clumsiness, Progressive spastic ... |
ORPHA:309271 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... |
OMIM:301310 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Abnormality of the... |
OMIM:614307 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Short attention span, Speech apraxia, Myotonia, Bundle branch block, First degree a... |
ORPHA:589821 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function |
OMIM:619553 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Tremor, Rigi... |
OMIM:234200 |
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 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
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 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:617830 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Ba... |
OMIM:270550 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Myotonia, Bowel incontinence, Congestive heart f... |
ORPHA:682 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Sensorineural hearing impairment, Distal sensory impairment, Urinary urgenc... |
OMIM:606071 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Urinary urgency, Bradykinesia, Dementia, Gait ... |
OMIM:168601 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Myopathy, Myofibrillar, 7 |
|
Urinary incontinence, Bowel incontinence, Enuresis nocturna, Myalgia, Difficulty walking, Dysphagia |
OMIM:617114 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Spastic paraplegia, Upper limb... |
OMIM:615033 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Urinary incontinence, Dysesthesia, Neck pain, Babinski sign, Vocal c... |
ORPHA:268882 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Urinary incontinence, Impaired temperature sensation, Episo... |
OMIM:268800 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Dys... |
ORPHA:64753 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Acetazolamide-Responsive Myotonia |
|
Myotonia, Hypertonia, Gait disturbance, Dysphagia |
ORPHA:99736 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Posteriorly rotated ears, Urinary incontinence, Inability to walk, Low-set ears, Dysphagia, Oculo... |
OMIM:301041 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Hemiparesis, Pseudobulbar paralysis, Gait disturbance, Urinary incontinence |
OMIM:125310 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... |
OMIM:610185 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... |
OMIM:302800 |
Nijmegen Breakage Syndrome |
|
Cachexia, Abnormality of neuronal migration, Pollakisuria, Attention deficit hyperactivity disord... |
ORPHA:647 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Large for gestational age, Cryptorchidism, Exercise-induced myalgia, Diffic... |
ORPHA:169189 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... |
OMIM:208920 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Abdominal pain, Respiratory paralysis, Urinary retentio... |
OMIM:176000 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Ataxia, Urinary incontinence, Bowel incontinence, Tetraplegia, Fasciculations... |
ORPHA:496641 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Parkinsonism, Stress urinary incontinence, Gait disturbance, Dysphagia, Hemiplegia, Spasticity |
ORPHA:136 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Loss of ambulation, Bradykinesia, Dementia, T-wave inve... |
ORPHA:228346 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Urinary incontinence, Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention d... |
ORPHA:476126 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive... |
ORPHA:284324 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Ocular pain, Functional abnormality of the bladder, Paraplegia, Recu... |
ORPHA:71211 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Cryptorchidism, Pollakisuria, Microtia, Hearing impairment |
OMIM:227330 |
Brody Disease |
|
Percussion myotonia, Somatic sensory dysfunction, Myotonia, Fasciculations |
OMIM:601003 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar atax... |
ORPHA:254881 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Urinary urgency, Bradykinesia, Dementi... |
OMIM:168600 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking |
ORPHA:477673 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm... |
ORPHA:542310 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Chronic constipation, Gait di... |
OMIM:210000 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Dysphagia, Urinary urgency, ... |
OMIM:275900 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis, Attention deficit hyperactivity disorder |
OMIM:300850 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dif... |
OMIM:159950 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... |
OMIM:615157 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behav... |
OMIM:618917 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
East Syndrome |
|
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Sensorineur... |
ORPHA:199343 |
Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... |
ORPHA:99734 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Fatigue, Urinary incontinen... |
ORPHA:139417 |
Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Dysphagia,... |
ORPHA:98755 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Abnormal nerve conduction... |
ORPHA:99014 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Progressive neurologic deterioration, Tremor, Nephrotic syndrome, Hypertension, Hype... |
ORPHA:1192 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity |
OMIM:617810 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Dystonic gait, Abno... |
ORPHA:280219 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Flank pain, Functional abnormality of the ... |
ORPHA:93108 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Spasticity, Abnormal repetitiv... |
OMIM:617820 |
Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Oromandibular dystonia, Dysm... |
ORPHA:101 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Spastic paraparesis, Palatal tremor, Urin... |
ORPHA:363722 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hy... |
ORPHA:98784 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Spasticity, Frequent falls, Tinnitus |
OMIM:617691 |
X-Linked Immunoneurologic Disorder |
|
Hypertonia, Hemiplegia/hemiparesis, Functional abnormality of the bladder |
ORPHA:2571 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Hyps... |
ORPHA:442835 |
Foxg1 Syndrome |
|
Pachygyria, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty wal... |
ORPHA:561854 |
Acute Intermittent Porphyria |
|
Dark urine, Restlessness, Renal insufficiency, Somatic sensory dysfunction, Back pain, Dysuria, U... |
ORPHA:79276 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency, Lower limb spasticity, Spastic gait, Progressive spastic paraplegia |
ORPHA:320355 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus |
OMIM:616366 |
Arachnoid Cyst |
|
Back pain, Urinary incontinence, Abdominal pain, Inability to walk, Paraparesis, Slurred speech, ... |
ORPHA:2356 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior |
OMIM:617171 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
Cog5-Cdg |
|
Neurogenic bladder, Posteriorly rotated ears, Urinary incontinence, Cryptorchidism, Sensorineural... |
ORPHA:263487 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... |
ORPHA:139485 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Diaphragmatic paralysis, Small for gestational age, Urinary incontinence |
OMIM:604320 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Urinary incontinence, Sensorineural hearing impairment, Babinski sign, He... |
ORPHA:314404 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Raynau... |
ORPHA:227510 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Small for gestational age, Fail... |
OMIM:614104 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Bowel incontinence, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand tremor, D... |
ORPHA:276198 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Bowel incontinence, Inability to walk, Retra... |
OMIM:617193 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoat... |
OMIM:261640 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Fatigue, Somatic sensory dysfunction, Urinary incontinence, Tremor,... |
ORPHA:466768 |
Pure Autonomic Failure |
|
Dysuria, Impotence, Constitutional symptom, Urinary incontinence |
ORPHA:441 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence |
OMIM:617927 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:102 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Percussion myotonia, Dysphagia |
ORPHA:34516 |
Paganini-Miozzo Syndrome |
|
Microtia, Posteriorly rotated ears, Urinary incontinence, Low-set ears |
OMIM:301025 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Abnormal pinna morphology, Ataxia |
OMIM:300983 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... |
OMIM:618718 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Superficial Siderosis |
|
Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyramidal sign, D... |
ORPHA:247245 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Myotonia Permanens |
|
Myotonia, Hypertonia, Gait disturbance, Dysphagia |
ORPHA:99735 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with per... |
ORPHA:282166 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of... |
ORPHA:289494 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Elevated circulating phytanic ac... |
OMIM:614867 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Urinary incontinence, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonus, Bradykinesia, Hypertonia... |
OMIM:617435 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Ab... |
ORPHA:363400 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Tremor, Diarrhea, Gait disturbance, Arrhythmia |
ORPHA:29822 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Raynaud phenomenon, Abno... |
ORPHA:98933 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia |
ORPHA:330050 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Dysphagia, Bradyki... |
ORPHA:411602 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Polymicrogyria, Abnormal repetitive man... |
OMIM:615282 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares... |
OMIM:607483 |
Secondary Syringomyelia |
|
Back pain, Somatic sensory dysfunction, Dysuria, Paraplegia, Sensory ataxia, Progressive cerebell... |
ORPHA:99857 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Rigidity, Tremor, Dysphagia, Choreoathetosis, Hyperkinetic ... |
OMIM:233910 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Fatigue, Urinary incontinence, Parkinsonism, Bowel incontinence, Rigidity, Babins... |
ORPHA:306674 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co... |
OMIM:615673 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hypokalemic Periodic Paralysis |
|
Myotonia, Paralysis, Impaired myocardial contractility, Respiratory paralysis, Fatigable weakness... |
ORPHA:681 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity |
ORPHA:33445 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Dysphagia, Abnormal synaptic transmission, Blepharospasm, Bradyk... |
ORPHA:683 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... |
OMIM:619092 |
Zebra Body Myopathy |
|
Waddling gait, Handgrip myotonia, Torticollis |
ORPHA:97240 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Distal Myopathy, Tateyama Type |
|
Clumsiness, Percussion-induced rapid rolling muscle contractions, Palpitations, Distal sensory im... |
ORPHA:488650 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, Dysphagia, EMG: myotonic runs |
OMIM:255700 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Urinary incontinence, Spastic tetraplegia, Limb hypertonia |
OMIM:620070 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence |
OMIM:182940 |
Arachnoiditis |
|
Fatigue, Arthralgia, Paresthesia, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impair... |
ORPHA:137817 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhyt... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhyt... |
ORPHA:98853 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... |
ORPHA:240071 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Spasticity, Abn... |
ORPHA:280763 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Tip-toe gait, Left ventricular systolic dysfunction, Frequent fa... |
ORPHA:353 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... |
OMIM:620065 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Sudden une... |
OMIM:619317 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Focal EEG discharges with secondary gene... |
ORPHA:3077 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhyt... |
ORPHA:98863 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Abdominal colic, F... |
ORPHA:976 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio... |
OMIM:607694 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ... |
OMIM:618060 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Self-mutilation, Hyperkinetic movements, Gait disturbance, Upper limb spastic... |
ORPHA:457240 |
Cystathioninuria |
|
Cystathioninemia, External ear malformation, Tremor |
ORPHA:212 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Urinary incontinence, Hair-pulling, Dysphagia, Prot... |
ORPHA:447997 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhyt... |
ORPHA:98855 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Decreased body weight, Hypospadias, Ataxia, Rigidity, ... |
OMIM:300260 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Urinary retention, Myoclonus, Dysphagia |
OMIM:600072 |
Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... |
ORPHA:157846 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Gait ataxia, Spastic dysarthria, Progressiv... |
ORPHA:95433 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Sensorineural hearing impairm... |
OMIM:619473 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Dysphagia, Distal sensory impairment |
OMIM:607734 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Vesicouret... |
ORPHA:84085 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Handgrip myotonia, ... |
ORPHA:438216 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Myotonia, Decreased urinary potassium, Tremor, Paralysis, Shortened PR int... |
ORPHA:79102 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Dementia, Myoclonus, Trun... |
OMIM:137440 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Horseshoe kidney, Dysphagia, Choreoathetosis, Gastroesophageal reflux,... |
OMIM:617664 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea |
OMIM:602481 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, D... |
OMIM:612780 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Christianson Syndrome |
|
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrotia, Abnormal repe... |
ORPHA:85278 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
Distal Deletion 10Q |
|
Abnormal morphology of the vestibule of the inner ear, Failure to thrive, Ataxia, Clonus, Aggress... |
ORPHA:96148 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Diarrhea, Hypertonia, Con... |
ORPHA:99745 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chronic kidney dise... |
ORPHA:25 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... |
ORPHA:228402 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait, ... |
OMIM:616505 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Decreased nerve conduction velocity, In... |
ORPHA:812 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Posteriorly rotated ears, Urinary incontinence, Low-set ears |
OMIM:618885 |
Encephalitis Lethargica |
|
Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Limb pain, Myalgia |
ORPHA:83600 |
Glycogen Storage Disease Ii |
|
Exercise intolerance, Urinary incontinence, Diaphragmatic paralysis, Difficulty walking, Hearing ... |
OMIM:232300 |
Gitelman Syndrome |
|
Fatigue, Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Abdominal pain, Enur... |
OMIM:263800 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Riboflavin Transporter Deficiency |
|
Ataxia, Tremor, Hypertension, Myoclonus, Dysphagia |
ORPHA:97229 |
Ataxia-Telangiectasia |
|
Ataxia, Telangiectasia of the skin, Tremor, Gait disturbance, Cognitive impairment, Spasticity, M... |
ORPHA:100 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:313200 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, EEG... |
ORPHA:1942 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ... |
OMIM:254900 |
Young-Onset Parkinson Disease |
|
Short attention span, Gastroparesis, Tremor, Rigidity, Diarrhea, Frontal lobe dementia, Bradykine... |
ORPHA:2828 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Dystonia, Tremor, Chorea,... |
OMIM:606002 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Arthralgia, Fatigue, Abno... |
ORPHA:3385 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu... |
ORPHA:223 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremor, Congestive... |
ORPHA:94080 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia, Periodic paralysis |
OMIM:170600 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Attention deficit hyperactivity d... |
ORPHA:3375 |
Gitelman Syndrome |
|
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Abdomina... |
ORPHA:358 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb, Inability to walk, Falls, Dysphagia |
ORPHA:3101 |
Cystinosis |
|
Fatigue, Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Am... |
ORPHA:213 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ... |
OMIM:300894 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cryptorchidi... |
ORPHA:191 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormal renal morphology, Self hugging, Increased body w... |
OMIM:182290 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Urinary incontinence, Bowel incontinence, Hearing impairment |
OMIM:616482 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Recurrent myoglobinuria, Proteinuria, Tremor, Nephrotic syndrome, Focal segmental glomeru... |
OMIM:607426 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Frontotemporal dementia, Congestive heart failure, Cardiomyopathy, Fasciculations,... |
ORPHA:52430 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal tactile sensation, Me... |
OMIM:182410 |
Camptobrachydactyly |
|
Urinary incontinence |
OMIM:114150 |
Meningioma |
|
Back pain, Hemifacial spasm, Abnormal central motor function, Ataxia, Urinary incontinence, Hypog... |
ORPHA:2495 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hearing impairment |
ORPHA:87876 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Simplified gyral pattern, Hypertonia, Macrotia, Abnormal repetitive mannerisms... |
OMIM:619877 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... |
OMIM:614381 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Urinary incontinence, Oral-pharyngeal dysphagia, Aggressive b... |
ORPHA:404448 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Serotonin Syndrome |
|
Tachycardia, Confusion, Clonus, Nausea, Tremor, Rigidity, Diarrhea, Hypertension, Hypertonia, Myo... |
ORPHA:43116 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia, Periodic paralysis |
OMIM:170400 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, Spa... |
OMIM:618527 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis |
ORPHA:329284 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, EEG... |
ORPHA:98794 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Involuntary movements, Dysphagia, Spasticity, Pachygyria, Abnormal repetitive... |
ORPHA:572013 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Nephrotic syndrome, Head tremor, Glomerular... |
OMIM:619428 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Ataxia, Hypergonadotropic hypogonadism, Tremor, Cryptorchidism, Obesity, Azo... |
ORPHA:10 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Hypertonia, Gastroesophageal reflux, Ataxia, Dilated cardiomyopathy, Gait di... |
ORPHA:254892 |
Neuroleptic Malignant Syndrome |
|
Fatigue, Rigors, Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Tremor, Cho... |
ORPHA:94093 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Speech apraxia, Dysuria, Babinski sign, Slurred speech, Dysphagia, ... |
ORPHA:101000 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Cardiomyopathy, Dysphagia, Hydronephrosis |
OMIM:222300 |
Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Arg... |
ORPHA:2203 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Poor coordination, Obesity,... |
OMIM:618430 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Myotonia |
OMIM:170500 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... |
OMIM:612164 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... |
OMIM:618342 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Hypospadias, Abnormality of the kidney, Abnormal pinna morpholog... |
OMIM:123450 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Perisylvian pol... |
OMIM:619121 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Tetanus |
|
Tachycardia, Bowel incontinence, Elevated urinary norepinephrine level, Tremor, Rigidity, Elevate... |
ORPHA:3299 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, EE... |
OMIM:615356 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Abnormality of the kidney, Paraparesis, Bone pain, Arthralgia, Gangrene, Urinary bladder... |
ORPHA:53721 |
Perry Syndrome |
|
Parkinsonism, Tremor, Dementia, Abnormality of extrapyramidal motor function, Hypotension |
ORPHA:178509 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Dysphagia |
OMIM:160900 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Decreased body weight, Abnor... |
OMIM:618347 |
Mercury Poisoning |
|
Tachycardia, Confusion, Tremor, Hypertension, Hypotension, Dystonia, Acute kidney injury, Episodi... |
ORPHA:330021 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturb... |
OMIM:300986 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
EEG abnormality |
OMIM:617643 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability t... |
ORPHA:845 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Cardiomyopathy, Hypertonia, Dystonia, ... |
OMIM:617710 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ... |
OMIM:617600 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Spasticity, Abnormal repe... |
OMIM:617807 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Methylmalonic aciduria, Dysmetria |
OMIM:615578 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Impaired toileting ability, Ath... |
OMIM:619435 |
Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, Bruxism, Macrotia, Abnormal repe... |
OMIM:618004 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine concentration,... |
OMIM:613179 |
Idiopathic Camptocormia |
|
Myotonia, Parkinsonism, Fatigable weakness of skeletal muscles, Frontotemporal dementia, Abnormal... |
ORPHA:1320 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... |
OMIM:600430 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity |
OMIM:304700 |
Alternating Hemiplegia Of Childhood |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramid... |
ORPHA:2131 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Spasticity, Gait ataxia, Microphallus, Micropenis, Macrotia, Abnor... |
OMIM:300486 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Ataxia, Paraplegia, Agitation, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
Myofibrillar Myopathy 10 |
|
Percussion myotonia, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, F... |
ORPHA:778 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal morphology, F... |
OMIM:610883 |
Tenorio Syndrome |
|
Cerebral palsy, Raynaud phenomenon, Clumsiness, Enuresis, Syncope, Gastroesophageal reflux, Gait ... |
OMIM:616260 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Aggressive behavior, Tremor, Obesity, Enur... |
OMIM:619680 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Abnormality of extrapyramidal motor function, Macr... |
ORPHA:79233 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Hematochezia, Mental deterioration, Memory impairment |
ORPHA:79095 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Dyspepsia, Renal insufficiency, Primary testicular failure, Proteinuria, Abdomi... |
ORPHA:85450 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Difficulty walking, Dysphagia |
OMIM:619482 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... |
OMIM:619522 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Urinary urgency, Spasticity, Simplified gyral pattern, Low-set ears |
OMIM:619286 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Progressive neurologic deterioration, Tre... |
OMIM:614947 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Multicystic kidney dysplasia, Sensorineural hearing impairment, Obesity, Choreoat... |
ORPHA:261197 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Lower limb spasticity, Ataxia, Proteinu... |
ORPHA:90321 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gray matter heterotopia... |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... |
OMIM:618504 |
Joubert Syndrome 6 |
|
Ataxia, Stage 5 chronic kidney disease, Nephronophthisis, Oculomotor apraxia, Abnormal repetitive... |
OMIM:610688 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... |
ORPHA:168491 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... |
ORPHA:530983 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremo... |
ORPHA:276621 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia |
OMIM:278760 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... |
OMIM:610042 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis, Xerostomia, Constipation, Urina... |
ORPHA:254509 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... |
OMIM:606995 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder, Mental dete... |
ORPHA:79254 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Enures... |
OMIM:619293 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Diarrhea, Diaphragmatic paralysis, Xerostomia, Urinary retention, Cons... |
ORPHA:228371 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Renal hypoplasia/aplasia, Impaired pain sensation, Abnormality of t... |
ORPHA:819 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... |
OMIM:617988 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Aggressive behavior, Underfolded superior helices, Hypertonia, ... |
OMIM:300352 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Focal polymicrogyria, Cryptorchidism, Horseshoe ... |
OMIM:619103 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Recurrent urinary tract infections, EEG with focal spike waves, Ataxia, Low... |
OMIM:619229 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive... |
ORPHA:369950 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ... |
OMIM:208900 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria, Abdominal pain |
ORPHA:284400 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... |
OMIM:602668 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
Alexander Disease |
|
Ataxia, Clonus, Bowel incontinence, Sudden cardiac death, Tremor, Chorea, Abnormal pyramidal sign... |
ORPHA:58 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Absent earlobe, Posteriorly rotated ears, Urinary incontinence, Attention deficit hyperactivity d... |
OMIM:619934 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Abnormality of the kidney, Impaired pain sensation, Aggressive behavior, Unstea... |
OMIM:606232 |
Split Cord Malformation |
|
Back pain, Low back pain, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphinct... |
ORPHA:573278 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Small for gestational age, Self-injurious behavior, Compulsive behavior... |
OMIM:613174 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Ataxia, Dysuria, Sensorineural hearing impairment, Male hypog... |
ORPHA:3463 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Hypospadias, Gastroparesis, Tremor, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia... |
OMIM:614052 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Percussion myotonia |
OMIM:255800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Congestive heart failure, Opisthotonus, Choreoathetosis, 3-Methylglutaconic acidu... |
OMIM:616271 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:1727 |
Botulism |
|
Cerebral palsy, Diarrhea, Diaphragmatic paralysis, Xerostomia, Urinary retention, Constipation, D... |
ORPHA:1267 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
Wound Botulism |
|
Cerebral palsy, Cardiac arrest, Diaphragmatic paralysis, Constipation, Urinary retention, Dysphagia |
ORPHA:178475 |
Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia... |
ORPHA:273 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Hypospadias, Unilateral renal ag... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Small for gestational age, Aggressive behavior, Inability to walk,... |
OMIM:617799 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Bruxism, Simplified gyral pattern, Protruding ear, Athetosis, Apraxia, ... |
OMIM:613454 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... |
OMIM:176450 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Nephropathy |
ORPHA:220497 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Aggressive behavior, Tremor, Abnormal eating behavior, Night sweats,... |
ORPHA:247585 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... |
ORPHA:99956 |
Scorpion Envenomation |
|
Bundle branch block, Tremor, Vomiting, Prominent U wave, Hemifacial spasm, Ketonuria, Ataxia, Myo... |
ORPHA:466677 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Flank pain, Retrograde ejaculation, Fatigue, Abdominal pain, Unilateral renal hypoplasi... |
ORPHA:49041 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Uplifted earlobe, Conductive hearing impairment, Vesicoureteral reflux, Web... |
ORPHA:2152 |
Schwartz-Jampel Syndrome |
|
Myotonia, Abnormality of the ureter, Nephrolithiasis, Blepharospasm, Abnormality of the urinary s... |
ORPHA:800 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerism... |
OMIM:616579 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Small earlobe, Ataxia, Posteriorly rotated ears, Pain insensiti... |
OMIM:617330 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Bilateral sensorineural hearing im... |
ORPHA:397744 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria, Abdominal pain |
ORPHA:293807 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261537 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... |
OMIM:615512 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious be... |
OMIM:618914 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Sinus tachycardia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Tremo... |
ORPHA:29072 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tremor, Bloody diarrhea, Tubulointerstitial nephrit... |
ORPHA:90068 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Postnatal growth retardation, Abnormal pyramidal sign, Ga... |
OMIM:612199 |
Erdheim-Chester Disease |
|
Fatigue, Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Abdominal pain, Bon... |
ORPHA:35687 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Low-set ears, Attention defici... |
ORPHA:459061 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Secondary amenorrhea, Renal cyst, Self-injurious behavior, Co... |
ORPHA:488618 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Dysphagia, Athetosis, Cardiomyopathy, Difficulty ... |
ORPHA:572798 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... |
OMIM:620242 |
Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Abnormal renal morph... |
OMIM:610253 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal repetitive mannerisms, Hypertonia, Congenital sensorineural hear... |
ORPHA:79155 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Progressive neurologic deterioration, Tremor, Diarrhea, Renal Fanconi s... |
ORPHA:263455 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... |
ORPHA:556 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Dysesthesia, Cryptorchidism, Functi... |
ORPHA:2953 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen, Low-set ears |
ORPHA:89844 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Ataxia, Proteinuria, Tremor, Diarrhea, Renal cyst, Dysmetria, Nephrotic syndrome, C... |
OMIM:212065 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Rigidity, Percussion myotonia, Gastroesophageal reflux |
OMIM:620275 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... |
OMIM:214500 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Bowel incontinence, Agg... |
ORPHA:261494 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Mild postnatal growth retardation, Progress... |
ORPHA:90324 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Decreased serum zinc |
OMIM:201100 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairmen... |
OMIM:212066 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k... |
ORPHA:261552 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy |
ORPHA:69076 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Seve... |
ORPHA:64 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... |
OMIM:616393 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Wilson Disease |
|
Tremor, Hand tremor, Aminoaciduria, Vomiting, Limb dystonia, Hypoesthesia, Renal tubular dysfunct... |
OMIM:277900 |
Isolated Posterior Meningocele |
|
Bowel incontinence, Paraplegia, Enuresis, Hypertonia, Upper limb spasticity, Difficulty walking |
ORPHA:268810 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, EEG with burst suppression, Spasticity, Hypsarrhythmia, Choreoathetosis, EEG abnormality,... |
ORPHA:1934 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Confusion, Myocardial infarction, Transient ischemic attack, Hemolytic-uremic syndro... |
OMIM:274150 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepatic fibrosis, Splenomegaly, Neo... |
ORPHA:1454 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Myotonia, Dysphagia, Impaired pain sensation |
OMIM:601559 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bilateral renal hy... |
OMIM:619695 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Micropenis, Abnormal r... |
OMIM:619475 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Tremor, Choreo... |
OMIM:614080 |
Inhalational Botulism |
|
Paralysis, Diarrhea, Xerostomia, Constipation, Urinary retention |
ORPHA:254504 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal pyramidal sign, Simplified gyral pattern, Hypertonia, Microphallus, Pachygyria, Pelvic k... |
ORPHA:468631 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... |
ORPHA:464311 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Anorexia, Cachexia, Bone pain, Hypogonadism, Urinary retention, Slender bu... |
ORPHA:1328 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Overfolded helix, Obesity, Difficulty walking, Low-set ears, Vesicoureteral reflu... |
OMIM:618653 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Confusion, Hemolytic-uremic syndrome, Cystathioninuria, Tremor,... |
OMIM:277400 |
Liang-Wang Syndrome |
|
Ataxia, Dystonia |
OMIM:618729 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Intraventricular hemorrhage, Diarrhea, Clumsiness, Enuresis ... |
ORPHA:420741 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Nausea, Paralysis, Tremor, Dysphagia... |
ORPHA:297 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Amelogenesis Imperfecta, Type Ig |
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Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Syncope, Vomiti... |
ORPHA:230 |
Okamoto Syndrome |
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Urinary incontinence, Unilateral renal hypoplasia, Low-set ears, Abnormal helix morphology, Urete... |
ORPHA:2729 |
Mirage Syndrome |
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Hyponatremia, Thrombocytopenia, Hyperkalemia, Paraplegia, Leukopenia, Hypoplastic spleen, Lymphop... |
OMIM:617053 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Pearson Syndrome |
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Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Listeriosis |
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Somatic sensory dysfunction, Pericarditis, Ataxia, Tremor, Congestive heart failure, Diarrhea, Pe... |
ORPHA:533 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Prolonged QT interval, Tachycardia, Atrial fibrillation, Ileus, Muscle mounding, Constipation, Br... |
OMIM:613327 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenes... |
ORPHA:464306 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
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Chorea, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) |
ORPHA:79137 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Overweight, Sensorineural hearing impairment, Head-banging, Renal tubular acidosis, Self-injuriou... |
OMIM:619575 |
Cockayne Syndrome A |
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Renal insufficiency, Ataxia, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve co... |
OMIM:216400 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Cardiomyopathy, Myoglobinuria, EMG: myotonic runs |
ORPHA:206549 |
Orthostatic Hypotension 1 |
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Retrograde ejaculation, Nocturia |
OMIM:223360 |
Stevens-Johnson Syndrome |
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Fatigue, Dyspareunia, Renal insufficiency, Dysuria, Sudden cardiac death, Abdominal pain, Abnorma... |
ORPHA:36426 |
Niemann-Pick Disease, Type C2 |
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Ataxia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
Oculopharyngodistal Myopathy 1 |
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Paroxysmal atrial fibrillation, Ataxia, Tremor, Dilated cardiomyopathy, Difficulty walking, Dysph... |
OMIM:164310 |
Williams-Beuren Syndrome |
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Vocal cord paralysis, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Micropeni... |
OMIM:194050 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior... |
OMIM:614756 |
Urachal Cyst |
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Dysuria, Abdominal pain, Pyuria, Urachus fistula, Hematuria, Chills |
ORPHA:488 |
Enamel-Renal Syndrome |
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Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Visceral Myopathy 1 |
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Abdominal pain, Megacystis, Urinary retention, Dysphagia, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Pachygyria, Repetitive compulsive behavior, Abnormal Eustachian tube morphology... |
ORPHA:513456 |
1P36 Deletion Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, H... |
ORPHA:1606 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Hypospadias, Ataxia, Dystonia, Tremor, Dysmetria, Dysphagia, Hypertension, Mitral regu... |
OMIM:220111 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Proteinuria, Cryptorchidism, Encopresis, Unsteady gait, Loss of ambulation, Abnormal repetitive m... |
OMIM:616682 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... |
ORPHA:353281 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
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Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) |
OMIM:609446 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Aggressive behavior, Impaired pain sensation, Sensorineural hearing impairment, Obesity, Enuresis... |
ORPHA:293987 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Congestive heart failure, Diarrhea, Functional abnormality of the bladder, Enterocolitis, Renovas... |
ORPHA:391487 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,... |
OMIM:620330 |
Zimmermann-Laband Syndrome |
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Large fleshy ears, Thickened ears, Sensorineural hearing impairment |
ORPHA:3473 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen, Low-set ears |
OMIM:601186 |
Nmda Receptor Encephalitis |
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Involuntary movements, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoathetosis, Agitation... |
ORPHA:217253 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Broad-based gait, Failure to thrive, Unilateral renal agenesis, Impulsivity, Cryptorchidism, Macr... |
OMIM:619503 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox... |
OMIM:309000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Chronic pain... |
ORPHA:79408 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
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Multifocal epileptiform discharges |
OMIM:618596 |