| Auditory Neuropathy, Autosomal Dominant 3 |
|
Hearing impairment, Abnormal speech discrimination |
OMIM:619832 |
| Deafness, Autosomal Recessive 1B |
|
Hearing impairment, Abnormal vestibular function |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Hearing impairment, Abnormal vestibular function |
OMIM:613391 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
| Deafness, Autosomal Dominant 65 |
|
Progressive hearing impairment, Abnormal vestibular function |
OMIM:616044 |
| Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
| Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
| Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
| Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
| Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses |
OMIM:601071 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
| Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
| Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
| Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
| Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
| Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
| Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
| Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
| Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
| Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
| Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment |
OMIM:613285 |
| Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment, Facial palsy |
OMIM:604185 |
| Deafness, Autosomal Recessive 104 |
|
Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,... |
OMIM:616515 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology |
OMIM:618778 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Usher Syndrome, Type Id |
|
Hearing impairment, Abnormal vestibular function |
OMIM:601067 |
| Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
| Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
| Deafness, Autosomal Dominant 9 |
|
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... |
OMIM:601369 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Progressive sensorineural hearing impairment |
OMIM:208850 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Dominant 87 |
|
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Hearing impairment, Abnormal vestibular function |
OMIM:614934 |
| Primary Dystonia, Dyt13 Type |
|
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... |
ORPHA:98807 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech |
OMIM:160120 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Babinski sign, Impaired vibration sensation at ankles, Sensorineural hearing impairment, Dysdiado... |
ORPHA:101007 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Tremor, Gait ataxia, Hearing impairment, Impaired vibratory sensation |
ORPHA:217012 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia, Vertigo |
ORPHA:211067 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, Abnormal speech discrimination |
OMIM:620384 |
| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia |
OMIM:615945 |
| Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... |
ORPHA:98769 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... |
OMIM:616053 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Tip-toe gait, Scissor gait, Sensorineural hearing impairment, Spasticity, Clonus, Spastic paraplegia |
ORPHA:101004 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... |
OMIM:617018 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment, Ataxia |
OMIM:136600 |
| Developmental And Epileptic Encephalopathy 92 |
|
Difficulty walking, Inability to walk, Spasticity, Dystonia, Ataxia, Myoclonus, EEG abnormality, ... |
OMIM:617829 |
| Tremor, Hereditary Essential, 1 |
|
Action tremor, Hand tremor, Postural tremor |
OMIM:190300 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Adult onset sensorineural hearing impairment, Distal sensory impairment, Ataxia |
OMIM:212710 |
| Spinocerebellar Ataxia 20 |
|
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor |
OMIM:608687 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Impaired proprioception, Ataxia |
OMIM:176250 |
| Dystonia 31 |
|
Abnormal posturing, Difficulty walking, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm ... |
OMIM:619565 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Glut1 Deficiency Syndrome 1 |
|
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG ab... |
OMIM:606777 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia |
OMIM:213000 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibrati... |
OMIM:300905 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus |
OMIM:614937 |
| Deafness, Autosomal Recessive 55 |
|
Hearing impairment, Abnormal vestibular function |
OMIM:609952 |
| Deafness, Autosomal Recessive 47 |
|
Hearing impairment, Abnormal vestibular function |
OMIM:609946 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... |
OMIM:601068 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
| Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor |
ORPHA:85292 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:314250 |
| Dystonia 27 |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... |
OMIM:616411 |
| Autism, Susceptibility To, X-Linked 3 |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:300425 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... |
OMIM:614561 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... |
ORPHA:94122 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... |
ORPHA:464440 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic gait, Jerky head movements, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, L... |
ORPHA:251282 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Spinocerebe... |
ORPHA:95433 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Hearing impairment, Tremor, Distal sensory impairment |
OMIM:614369 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxi... |
ORPHA:401901 |
| Dystonia 22, Adult-Onset |
|
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... |
OMIM:620456 |
| Urocanase Deficiency |
|
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior |
OMIM:276880 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Ataxia, Myoclonus |
OMIM:159800 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... |
ORPHA:363710 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Myoclonus, Intention t... |
ORPHA:2589 |
| Autism |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:607373 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Motor stereotypy, EEG abn... |
OMIM:608636 |
| Spastic Paraplegia 72A, Autosomal Dominant |
|
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... |
OMIM:615625 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
| Mohr-Tranebjaerg Syndrome |
|
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal vestibula... |
ORPHA:52368 |
| Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Self-biting, Head tremor |
OMIM:619988 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... |
OMIM:615127 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... |
OMIM:618013 |
| Spinocerebellar Ataxia Type 5 |
|
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech |
ORPHA:98766 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory ev... |
ORPHA:320401 |
| Spastic Paraparesis And Deafness |
|
Hearing impairment, Spastic paraparesis, Tremor |
OMIM:312910 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:612437 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Sensorineural hearing impairment, Ataxia, Gait ataxia |
OMIM:117210 |
| Deafness, Autosomal Recessive 12 |
|
Prelingual sensorineural hearing impairment, Abnormal vestibular function |
OMIM:601386 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy |
OMIM:608631 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... |
OMIM:615768 |
| Tremor, Hereditary Essential, 5 |
|
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia |
OMIM:618425 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Hypertonia, Hearing impairment, Olivopontocerebellar atrophy, Ataxia, EEG abnormality |
ORPHA:2732 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Hearing impairment, Optic di... |
OMIM:165300 |
| Autosomal Spastic Paraplegia Type 30 |
|
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... |
ORPHA:101010 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria |
OMIM:617917 |
| Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... |
ORPHA:284332 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Spinocerebellar Ataxia Type 35 |
|
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... |
ORPHA:276193 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron... |
ORPHA:216873 |
| Sandhoff Disease, Adult Form |
|
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia |
ORPHA:309169 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615957 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... |
ORPHA:71277 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor |
OMIM:618866 |
| Dystonia 16 |
|
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Dysphagia, Unste... |
ORPHA:210571 |
| Spinocerebellar Ataxia 35 |
|
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... |
OMIM:613908 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus |
ORPHA:308 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor |
OMIM:611092 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, Myoclonus, Jerk-locke... |
OMIM:613608 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait |
OMIM:616921 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia, Aggressive be... |
OMIM:617270 |
| Segawa Syndrome, Autosomal Recessive |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... |
OMIM:605407 |
| Spinocerebellar Ataxia Type 23 |
|
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... |
ORPHA:101108 |
| Deafness, Autosomal Dominant 44 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... |
OMIM:620280 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism |
OMIM:300911 |
| Dystonia With Cerebellar Atrophy |
|
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia, Dysphagia |
OMIM:611694 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... |
ORPHA:314978 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Adult ... |
ORPHA:1368 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... |
OMIM:616948 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment, Positive Romberg sign, Abnormal vestibular function |
OMIM:618787 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Athetosis, Progressive extra... |
ORPHA:382 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... |
OMIM:620482 |
| Developmental And Epileptic Encephalopathy 40 |
|
Hypsarrhythmia, Spasticity, Spastic tetraparesis, Myoclonus, Choreoathetosis, Lethargy |
OMIM:617065 |
| Spinocerebellar Ataxia Type 20 |
|
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... |
ORPHA:101110 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar atrophy, Inability... |
OMIM:615268 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... |
ORPHA:98762 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601382 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria |
OMIM:607458 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements |
OMIM:611031 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Paroxysmal dyskinesia, Lower limb spasticity, Paresthesia, Torsion dystonia, Chorea, Involuntary ... |
ORPHA:98811 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism, Myoclonus |
OMIM:606840 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... |
OMIM:611302 |
| Spastic Paraparesis-Deafness Syndrome |
|
Impaired pain sensation, Sensorineural hearing impairment, Gait disturbance, Hemiplegia/hemipares... |
ORPHA:2815 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Hearing im... |
ORPHA:101075 |
| Lichtenstein-Knorr Syndrome |
|
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... |
OMIM:616291 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
| Migraine, Familial Hemiplegic, 1 |
|
Agitation, Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Central Neurocytoma |
|
Babinski sign, Depression, Tinnitus, Ataxia, Pain insensitivity, Lethargy, Paresthesia |
ORPHA:73256 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior |
OMIM:239500 |
| Dystonia 23 |
|
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, L... |
OMIM:614860 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Dystonia, Motor stereotypy,... |
OMIM:619150 |
| Brunner Syndrome |
|
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior |
OMIM:300615 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... |
OMIM:610245 |
| Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... |
ORPHA:231169 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... |
OMIM:619742 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements, Apathy |
ORPHA:71518 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech |
OMIM:609161 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Abnormality of extrapyramidal motor function, Dystonia, Ataxia, Abnormal pyramidal sign, Lethargy |
OMIM:618224 |
| Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns... |
ORPHA:423275 |
| Ravine Syndrome |
|
Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal a... |
ORPHA:99852 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Anorexia, Lethargy, Gait disturbance |
ORPHA:79283 |
| Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617133 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Babinski sign, Oculogyric crisis, Abnormality of extrapyramidal motor function, Lim... |
ORPHA:101150 |
| Meniere Disease |
|
Hearing impairment, Vertigo, Tinnitus |
OMIM:156000 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus |
OMIM:618876 |
| Spinocerebellar Ataxia 12 |
|
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... |
OMIM:604326 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Hearing i... |
ORPHA:101078 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia, Lethargy |
OMIM:618683 |
| Deafness, Autosomal Dominant 77 |
|
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Tremor, Hereditary Essential, 2 |
|
Upper limb postural tremor, Kinetic tremor |
OMIM:602134 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Dysphagia,... |
OMIM:302500 |
| Dystonia, Dopa-Responsive |
|
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... |
OMIM:128230 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior |
OMIM:617171 |
| Autosomal Spastic Paraplegia Type 72 |
|
Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor |
ORPHA:401849 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations, Tremor, Loss of ambulation |
OMIM:182980 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Orthostatic hypotension, Resting tremor, Depression, Parkinsonism with favorable re... |
OMIM:616710 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... |
ORPHA:98763 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner... |
ORPHA:268882 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... |
OMIM:616648 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Dystonia, Torticollis, Involuntary movements |
OMIM:620245 |
| Dystonia 12 |
|
Bradykinesia, Torticollis, Depression, Tremor, Dystonia, Unsteady gait, Dysphagia, Parkinsonism |
OMIM:128235 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... |
OMIM:260300 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Cerebellar atrophy, Inability to walk |
OMIM:619333 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... |
OMIM:607317 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Ataxia, Aggressive behavior |
OMIM:620270 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Peripheral axonal neuropathy, Hearing impairment, Dystonia, Ata... |
OMIM:619196 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Hypergonadotropic ... |
OMIM:617145 |
| Spinocerebellar Ataxia 29 |
|
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
| Superficial Siderosis |
|
Limb ataxia, Abnormality of the vestibulocochlear nerve, Babinski sign, Impaired temperature sens... |
ORPHA:247245 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Dystonia, Frequent falls, Myoclonus |
OMIM:619647 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria |
OMIM:608029 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Self-mutilation, Aggr... |
OMIM:616269 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Difficulty walking, Distal sensory impairment, Lethargy |
OMIM:613710 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Agitation, Tremor, Compulsive behaviors, Dystonia, Myoclonus |
OMIM:619651 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria |
OMIM:617584 |
| Non-Syndromic Genetic Deafness |
|
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... |
ORPHA:87884 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetrapar... |
OMIM:615924 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Cerebellar dysplasia, Severe... |
OMIM:604213 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment, Difficulty walking... |
ORPHA:352675 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Steppage gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, V... |
OMIM:613641 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... |
ORPHA:240103 |
| Stxbp1-Related Encephalopathy |
|
Inability to walk, EEG with abnormally slow frequencies, Hyperactivity, Hypsarrhythmia, Spasticit... |
ORPHA:599373 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis |
OMIM:125370 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Recurrent han... |
OMIM:617862 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... |
OMIM:608984 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Primary Dystonia, Dyt2 Type |
|
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... |
ORPHA:99657 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parki... |
OMIM:618093 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc... |
OMIM:158580 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... |
OMIM:613074 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... |
ORPHA:79262 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... |
OMIM:602588 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebella... |
ORPHA:157941 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... |
OMIM:213200 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Apathy, Short steppe... |
ORPHA:306692 |
| Classic Galactosemia |
|
Premature ovarian insufficiency, Male infertility, Gait imbalance, Depression, Secondary amenorrh... |
ORPHA:79239 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to ... |
OMIM:128100 |
| Pendred Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... |
ORPHA:705 |
| Parkinson Disease 17 |
|
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism |
OMIM:614203 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Tremor, Distal sensory impairment, Difficulty walking |
OMIM:615048 |
| Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Dystonia |
OMIM:620515 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Lethargy |
ORPHA:622 |
| Susac Syndrome |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Vertigo, Upper motor neuron dysfun... |
ORPHA:838 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... |
OMIM:619274 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplit... |
OMIM:125250 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia |
OMIM:224500 |
| Deafness, Autosomal Dominant 2A |
|
Hearing impairment, Tinnitus |
OMIM:600101 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Aplasia/Hypo... |
ORPHA:401820 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... |
OMIM:616127 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... |
OMIM:609425 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus |
OMIM:616494 |
| N-Acetylaspartate Deficiency |
|
Truncal ataxia, Self-mutilation, Motor stereotypy |
OMIM:614063 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Distal sensory impairment, Vertigo, Sensory axonal neuropathy, Cochlear nerve hypoplasia, Hearing... |
OMIM:300614 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... |
OMIM:615386 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... |
OMIM:610185 |
| Autism, Susceptibility To, X-Linked 2 |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:300495 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Dysphagia, Impaired vibrato... |
OMIM:620221 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte... |
OMIM:613728 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... |
ORPHA:100973 |
| Corticobasal Syndrome |
|
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... |
ORPHA:454887 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Difficulty walking, Decreased nerve... |
ORPHA:206443 |
| Spinocerebellar Ataxia 50 |
|
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Hearing impairment, ... |
OMIM:620158 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Hearing impairment, Ataxia, Abnormality of the autonomic nervous system |
ORPHA:1186 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Imp... |
OMIM:619028 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... |
ORPHA:99014 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Babinski sign, Hypertonia, Decreased sensory nerve conduction velocity, Distal sen... |
OMIM:609260 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ... |
ORPHA:352641 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity, Dysphagia |
ORPHA:228169 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... |
ORPHA:276435 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Spasticity, Involuntary movements, Dystonia, Motor stereotypy, Self-injurious ... |
OMIM:617820 |
| Early Myoclonic Encephalopathy |
|
Hypsarrhythmia, Dysphagia, Myoclonus, EEG abnormality, Lethargy |
ORPHA:1935 |
| Spinocerebellar Ataxia 11 |
|
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... |
OMIM:604432 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Peripheral ... |
OMIM:617519 |
| Parkinsonism With Polyneuropathy |
|
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... |
OMIM:619279 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... |
OMIM:601596 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... |
ORPHA:284324 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... |
OMIM:607876 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic gait, Decreased nerve conduction velocity, Impaired vibratory sensation, Truncal ataxia, ... |
OMIM:238970 |
| Dystonia 22, Juvenile-Onset |
|
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Cerebellar atroph... |
OMIM:620453 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Myoclonus, Lethargy, Aggressive behavior |
OMIM:605899 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Akinesia, Difficulty walking, Depression, Truncal ataxia, Tremor, Gait disturbance, ... |
ORPHA:98764 |
| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation |
OMIM:274600 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... |
ORPHA:314632 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Truncal ataxia, Head titubation, Dystonia, Ataxia, Myoclonus, Lethargy, Dysmetria |
OMIM:250620 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... |
OMIM:607671 |
| Cyclic Vomiting Syndrome |
|
Anorexia, Hearing impairment, Ataxia, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia, Ataxia, Res... |
OMIM:615159 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... |
OMIM:614831 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria |
OMIM:618387 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... |
ORPHA:521406 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... |
OMIM:607483 |
| Chromosome Xq21 Deletion Syndrome |
|
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... |
OMIM:303110 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Hypsarrhythmia, Motor stereotypy |
OMIM:617830 |
| Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... |
ORPHA:101109 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... |
OMIM:618090 |
| Severe Canavan Disease |
|
Optic atrophy, Babinski sign, Inability to walk, Oral-pharyngeal dysphagia, Decerebrate rigidity,... |
ORPHA:314911 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Lower limb spasticity, Hearing impairment, Cerebral cortical atrophy, Aplasia... |
ORPHA:401830 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Ce... |
ORPHA:512260 |
| Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Oculomotor apraxia, Poor fine motor... |
ORPHA:96148 |
| Cerebellar Ataxia, Cayman Type |
|
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... |
OMIM:601238 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidi... |
OMIM:213600 |
| Adult Krabbe Disease |
|
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Progres... |
ORPHA:206448 |
| Fragile X Tremor/Ataxia Syndrome |
|
Obsessive-compulsive trait, Bradykinesia, Premature ovarian insufficiency, Resting tremor, Depres... |
OMIM:300623 |
| Huntington Disease-Like 1 |
|
Depression, Chorea, Incoordination, Rigidity, Unsteady gait, Restlessness, Mania, Dysmetria, Aggr... |
OMIM:603218 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Aggressive behavior, Babinski sign,... |
OMIM:615157 |
| Urocanic Aciduria |
|
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia |
ORPHA:210128 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Falls, Depression, Tremor, Parkinsonism with favorable response to dopaminergic med... |
ORPHA:240085 |
| Spinocerebellar Ataxia Type 11 |
|
Difficulty walking, Progressive cerebellar ataxia, Gait imbalance, Dystonia, Dysphagia, Abnormal ... |
ORPHA:98767 |
| Spinocerebellar Ataxia 19 |
|
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Dysph... |
OMIM:607346 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... |
OMIM:607565 |
| Dystonia 28, Childhood-Onset |
|
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... |
OMIM:617284 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Torticollis, Resting tremor, Depression, Craniofacial dystonia, Limb dystonia, Gait... |
ORPHA:71517 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor... |
ORPHA:2590 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Spasticity, Gait disturbanc... |
OMIM:603896 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Falls, Sensorineural... |
OMIM:617882 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Falls, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Action myoclonus, Myocl... |
OMIM:616230 |
| X-Linked Progressive Cerebellar Ataxia |
|
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ... |
ORPHA:1175 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Babinski sign, Peripheral axonal degeneration, Difficulty walking, Distal sensory i... |
OMIM:302800 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... |
ORPHA:397946 |
| Myoclonic-Atonic Epilepsy |
|
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Dystonia 24 |
|
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia |
OMIM:615034 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... |
OMIM:617225 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Impaired ... |
OMIM:614409 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrophy, Gait ata... |
OMIM:615362 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Simplified gyral pa... |
OMIM:619470 |
| Developmental And Epileptic Encephalopathy 56 |
|
Obsessive-compulsive trait, EEG with polyspike wave complexes, Broad-based gait, Action tremor, A... |
OMIM:617665 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy, Inability to walk, Spasticity, Cerebellar atrophy, Hearing impairment, Failure to ... |
OMIM:617954 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic gait, Optic atrophy, Babinski sign, Lower limb spasticity, Impaired distal proprioception... |
OMIM:270800 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Intention tremor, Hearing impairment, Dystonia, Impaired vibratory sens... |
OMIM:613724 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, EEG abnormality, Chorea, Stereotypical hand wringing |
OMIM:618760 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Progressive cerebellar ataxia, Spastic dysarthria, Spasticity, Bilateral sensorineural hearing im... |
ORPHA:314603 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Ataxia, Incoordination |
ORPHA:79136 |
| Spinocerebellar Ataxia 15 |
|
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor |
OMIM:606658 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... |
ORPHA:453521 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... |
OMIM:606324 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... |
OMIM:300423 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Intention tremor, Dystonia, A... |
OMIM:619725 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Depression, Chorea, Vertigo, Athetosis, Parkinsonism, Motor tics, Postural tremor, Hand tremor, A... |
OMIM:615483 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r... |
ORPHA:157946 |
| Dystonia 37, Early-Onset, With Striatal Lesions |
|
Leg dystonia, Oculomotor apraxia, Chorea, Ataxia, Dysphagia, Loss of ambulation, Generalized dyst... |
OMIM:620427 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... |
OMIM:610532 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Torticollis, Cerebellar vermis atrophy, Frequent falls, Limb dystonia, Dilated fou... |
OMIM:619054 |
| Schwannomatosis 1 |
|
Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive b... |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... |
OMIM:614322 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... |
OMIM:164500 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Attention deficit hyperactivity disorder, Dysmetria |
OMIM:619191 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Cerebellar atrophy, Titubation, Unsteady gait, Ataxia, Dysmetria |
OMIM:619405 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance... |
ORPHA:216866 |
| Multiple System Atrophy, Cerebellar Type |
|
Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Rest... |
ORPHA:227510 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance |
ORPHA:67047 |
| Spinocerebellar Ataxia 42 |
|
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... |
OMIM:616795 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism |
OMIM:605909 |
| Atypical Rett Syndrome |
|
Abnormal autonomic nervous system physiology, Gait ataxia, EEG abnormality, Bruxism, Pill-rolling... |
ORPHA:3095 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria |
OMIM:617916 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... |
ORPHA:53583 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Cerebellar atrophy, Spastic paraplegia, Ataxi... |
OMIM:610357 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Choreoathetosis, ... |
OMIM:233910 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, EEG with spike-wave complexes, Tremor, Loss of ambulation, Ataxia, Myoclonus |
OMIM:614018 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Gait disturbance |
ORPHA:26 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia, Small for gestational age |
OMIM:278780 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Dysphagia, P... |
OMIM:619738 |
| Deafness, Autosomal Recessive 77 |
|
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:613079 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru... |
OMIM:224050 |
| Dystonia 16 |
|
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... |
OMIM:612067 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Tinnitus, Ataxia, Dysmetria |
OMIM:617691 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Babinski sign, Myoclonus, Gait disturbance, Rigidity, Dystonia, Disinhibi... |
OMIM:600795 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... |
OMIM:600363 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spastic gait, Sensorineural hearing impairment, Impaired distal vibration sensation, Abnormal aut... |
ORPHA:99027 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... |
ORPHA:275864 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia |
OMIM:620174 |
| Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Sensorineural hearing impairment, Athetosis, Cerebellar atrophy, Decreased body we... |
OMIM:614559 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums... |
OMIM:256731 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Hearing impairment, Dystonia, Myoclonu... |
ORPHA:139485 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Hyperactivity, Tetraplegia, Lethargy |
OMIM:274270 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... |
OMIM:609270 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Tremor, Dystonia, Dysphagia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Juvenile Huntington Disease |
|
Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,... |
ORPHA:248111 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... |
OMIM:616719 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri... |
OMIM:618718 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, EEG abnormality, Lethargy |
OMIM:617900 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... |
OMIM:615528 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... |
OMIM:600116 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Myoclonus, Hand t... |
OMIM:608105 |
| Spinocerebellar Ataxia Type 36 |
|
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... |
ORPHA:276198 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Interictal epileptiform activity, Tremor, Myoclonus |
OMIM:615400 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb ataxia, Bradykinesia, Torticollis, Abnormal nerve conduction velocity, Limb myoclonus, Gait ... |
OMIM:619862 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Low... |
ORPHA:3077 |
| Roussy-Lévy Syndrome |
|
Limb ataxia, Babinski sign, Somatic sensory dysfunction, Difficulty walking, Impaired temperature... |
ORPHA:3115 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality |
OMIM:617836 |
| Baker-Gordon Syndrome |
|
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Dyston... |
OMIM:618218 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment, Ataxia |
ORPHA:85297 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Babinski sign, Abnormal sperm head morphology, Difficulty walking, Spastic dysarthria, Impaired v... |
ORPHA:320391 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia |
OMIM:183050 |
| Spinocerebellar Ataxia Type 29 |
|
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... |
ORPHA:208513 |
| Mast Syndrome |
|
Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetosis, Cerebellar atr... |
OMIM:248900 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... |
ORPHA:1215 |
| Multiple System Atrophy, Parkinsonian Type |
|
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, D... |
ORPHA:98933 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Sensorineural hearing impairment, Tetraplegia, Cerebellar atrophy, Failure to thri... |
OMIM:300475 |
| X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... |
ORPHA:53351 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar atrophy, Gait a... |
OMIM:605361 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... |
ORPHA:420485 |
| Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Cerebral atrophy, Hypertonia, Agitation, Cerebellar vermis atrophy, Spasticity, Tre... |
OMIM:617435 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Ataxia, Aplasia/Hypoplasia... |
ORPHA:1188 |
| Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Motor stereotypy |
OMIM:616341 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... |
ORPHA:352403 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria |
ORPHA:98771 |
| Deafness, X-Linked 2 |
|
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... |
OMIM:304400 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Choreoath... |
OMIM:606159 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Steppage gait, Distal sensory impairment, Sensorineural hearing impairment, Tremor, Gait disturba... |
OMIM:118300 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebral atrophy, Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Compulsive behaviors... |
OMIM:618917 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Lower limb spasticity, Progressive spastic paraplegia |
ORPHA:401835 |
| Benign Adult Familial Myoclonic Epilepsy |
|
EEG abnormality, Hand tremor, Myoclonus |
ORPHA:86814 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp... |
ORPHA:137898 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... |
OMIM:616881 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction... |
ORPHA:101077 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Limb ataxia, Steppage gait, Impaired proprioception, Decreased nerve conduction velocity, Inabili... |
ORPHA:101085 |
| Episodic Ataxia Type 3 |
|
Hemiplegia, Tinnitus, Episodic ataxia, Vertigo |
ORPHA:79135 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Sensorineural hearing impairment, Dy... |
ORPHA:504476 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... |
OMIM:618587 |
| Otosclerosis 7 |
|
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... |
OMIM:611572 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Low-set ears, Gait ataxia, Ataxia,... |
OMIM:619092 |
| Atypical Juvenile Parkinsonism |
|
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... |
ORPHA:391411 |
| Phenylketonuria |
|
Lower limb spasticity, Depression, Tremor, Ataxia, EEG abnormality |
ORPHA:716 |
| Hsd10 Disease |
|
Optic atrophy, Tremor, Gait disturbance, Hearing impairment, Rigidity, Ataxia, Dysphagia, Myoclon... |
ORPHA:391417 |
| Spinocerebellar Ataxia 17 |
|
Bradykinesia, Limb ataxia, Apraxia, Broad-based gait, Depression, Chorea, Positive Romberg sign, ... |
OMIM:607136 |
| Dystonia 7, Torsion |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... |
OMIM:602124 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Dystonia, Ataxia |
ORPHA:1171 |
| Spinocerebellar Ataxia 5 |
|
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... |
OMIM:600224 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch... |
ORPHA:225147 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus |
OMIM:616366 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, EEG abnormality, Lethargy |
OMIM:613002 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... |
ORPHA:1170 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Loss of a... |
OMIM:618088 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Distal sensory impairment, Sensorineural hearing impairment, Gait disturbance, Hea... |
OMIM:311070 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Limb dystonia, Head tit... |
OMIM:617560 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia |
OMIM:618951 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Spasticity, Tremor, Dystonia |
OMIM:304700 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cerebellar hypop... |
OMIM:617810 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Cerebellar at... |
ORPHA:98759 |
| Behr Syndrome |
|
Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Progressive... |
OMIM:210000 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... |
ORPHA:98773 |
| Spinocerebellar Ataxia Type 26 |
|
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
| Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... |
ORPHA:90646 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Bradykinesia, Chorea, Dystonia, Ataxia, Dysphagia, Parkinsonism, Abnormal pyramidal sign, Slurred... |
OMIM:618317 |
| Familial Dyskinesia And Facial Myokymia |
|
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus |
ORPHA:324588 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... |
ORPHA:765 |
| Ocular Motor Apraxia |
|
Jerky head movements, Oculomotor apraxia |
OMIM:257550 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... |
OMIM:616204 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ... |
OMIM:617695 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Lethargy |
OMIM:246900 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, E... |
ORPHA:79263 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Spinocerebellar Ataxia 46 |
|
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria |
OMIM:617770 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Hyperkinetic movements, Inability to walk, Bruxism, Stereotypical hand wringing... |
OMIM:618497 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... |
OMIM:612736 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... |
OMIM:617633 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Bradykinesia, Spastic gait, Babinski sign, Male hypogonadism, Apraxia, Resting tremor, Tremor, Sh... |
OMIM:300055 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased distal sensory nerve action potential, Steppage gait, Difficulty walking, Distal sensor... |
ORPHA:206594 |
| X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... |
ORPHA:93952 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Bradykinesia, Agitation, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Depression... |
ORPHA:13 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Gait at... |
ORPHA:98756 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Dysphagia, Unsteady gait |
ORPHA:284271 |
| Spinocerebellar Ataxia Type 10 |
|
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Depression, ... |
ORPHA:98761 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
EEG abnormality, Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials, Ataxia... |
OMIM:619260 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Tremor |
ORPHA:66633 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Inappropriate behavior, Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra... |
ORPHA:99750 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Hypertonia, Difficulty walking, Broad-based gait, Hypsarrhythmia, Sensorineural he... |
ORPHA:79097 |
| Peroxisome Biogenesis Disorder 8B |
|
Tip-toe gait, Babinski sign, Hypertonia, Lower limb spasticity, Cerebellar vermis atrophy, Spasti... |
OMIM:614877 |
| Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Sensorineural hearing impairment, Tremor, Cerebellar atrophy, Elevated circul... |
OMIM:614867 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Abnormal autonomic... |
OMIM:618049 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Sen... |
OMIM:612674 |
| Multiple System Atrophy |
|
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... |
ORPHA:102 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Frequent falls, Hypoplasia of ... |
OMIM:617523 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical at... |
ORPHA:33445 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Episodic ataxia, Dystonia, Myoclonus, Choreoathetosis, Lethargy |
OMIM:312170 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to... |
ORPHA:90117 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal pyr... |
ORPHA:247815 |
| Huntington Disease-Like 2 |
|
Bradykinesia, Depression, Chorea, Inertia, Action tremor, Rigidity, Dystonia, Apathy |
OMIM:606438 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Bradykinesia, Optic atrophy, Sensorineural hearing impairment, Incoordination, Truncal ataxia, Un... |
OMIM:601338 |
| Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Recurrent hand flapping, Impulsivity, Gait ataxia, Posteriorly rotated ears |
OMIM:619717 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Depression, Tremor, Hemiparesis, Dystonia, Parkinsonism |
ORPHA:306669 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis, Lethargy |
ORPHA:289916 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Abnormal pinna morphology, Gait disturbance, Stereotypical hand wr... |
OMIM:614104 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, EEG with oc... |
ORPHA:254881 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo... |
ORPHA:98 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... |
OMIM:606693 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Impaired vibr... |
OMIM:270685 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Dystonia, Lethargy |
ORPHA:26792 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Babinski sign, Premature ovarian insufficiency, Apraxia, Depression, Spasticity, Dystonia, Ataxia... |
OMIM:615889 |
| Caribbean Parkinsonism |
|
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act... |
ORPHA:97355 |
| Christianson Syndrome |
|
Truncal ataxia, Neuronal loss in central nervous system, Cachexia, Cerebellar atrophy, Gait ataxi... |
ORPHA:85278 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Optic atrophy, Sensorineural hearing impairment, Spasticity, Athetosis, Cerebellar atrophy, Inten... |
OMIM:617951 |
| Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se... |
ORPHA:100988 |
| Spinocerebellar Ataxia 49 |
|
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... |
OMIM:619806 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Babinski sign, Dystonia, Ataxia, Dysphagia, Lethargy |
OMIM:618226 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Lethargy, Myoclonus |
OMIM:618225 |
| Episodic Ataxia, Type 5 |
|
EEG with spike-wave complexes, Truncal ataxia, Vertigo, Episodic ataxia, Ataxia, Myoclonus, EEG w... |
OMIM:613855 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements, Paroxysmal dystonia, Oculomotor apraxia, Dystonia, Ataxia, Generalized dyst... |
OMIM:245348 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... |
OMIM:613670 |
| Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment |
OMIM:608224 |
| Foxg1 Syndrome |
|
Difficulty walking, Hyperkinetic movements, Inability to walk, Bruxism, Spasticity, Decreased bod... |
ORPHA:561854 |
| Spinocerebellar Ataxia 4 |
|
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... |
OMIM:600223 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Incomplete partition of the cochlea type II, Cholesteatoma, Sensorineur... |
OMIM:113650 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Spinocerebellar Ataxia Type 1 |
|
Bradykinesia, Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan... |
ORPHA:98755 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... |
OMIM:613135 |
| Developmental And Epileptic Encephalopathy 41 |
|
Babinski sign, Inability to walk, Hypsarrhythmia, Spasticity, EEG abnormality, Tetraparesis, Leth... |
OMIM:617105 |
| Manganese Poisoning |
|
Bradykinesia, Hypertonia, Akinesia, Decreased male libido, Depression, Abnormality of extrapyrami... |
ORPHA:306682 |
| Spinocerebellar Ataxia 6 |
|
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... |
OMIM:183086 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Sensorineural hearing impairment, Elevated circulating creatine kinase concent... |
OMIM:615350 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Optic atrophy, Sensorineural hearing impairment, Lethargy, Paresthesia |
ORPHA:49827 |
| Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
| Spinocerebellar Ataxia 28 |
|
Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Lower limb hypertonia, D... |
OMIM:610246 |
| Null Syndrome |
|
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Ataxia... |
ORPHA:280234 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebral atrophy, Hyperkinetic movements, Inability to walk, Oculogyric crisis, Polymicrogyria, C... |
OMIM:614254 |
| Epilepsy With Eyelid Myoclonia |
|
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... |
ORPHA:139431 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... |
ORPHA:101 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Dysphagia, Abnormal pyramidal ... |
OMIM:608768 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Limb ataxia, Decreased distal sensory nerve action potential, Hearing abnormality, Impaired pain ... |
OMIM:614575 |
| Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia |
OMIM:616042 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Stereotypical hand wringing, Inappropriate laughter, Multifocal epilepti... |
ORPHA:505652 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Sensorineural hearing impairment, Hearing impairment, Dystonia, Ataxia, Perip... |
OMIM:616684 |
| Isolated Atp Synthase Deficiency |
|
Optic atrophy, Sensorineural hearing impairment, Tetraplegia, Spastic paraplegia, Dystonia, Ataxi... |
ORPHA:254913 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... |
OMIM:603472 |
| Developmental And Epileptic Encephalopathy 67 |
|
Hypsarrhythmia, EEG abnormality, Athetosis, Recurrent hand flapping |
OMIM:618141 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Antalgic... |
OMIM:620546 |
| Spinocerebellar Ataxia 2 |
|
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... |
OMIM:183090 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Ataxia, Abnormal pyramidal sign, Lethargy, Optic disc pallor |
OMIM:618228 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Babinski sign, Torticollis, Oculogyric crisis, Tongue thrusting, Limb hypertonia, Athetosis, Blep... |
OMIM:608643 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Writer's cramp, Inability to walk, Broad-based gait, Depression, Tremor, Intention... |
OMIM:312080 |
| Citrullinemia Type I |
|
Torticollis, Spasticity, Ataxia, Ankle clonus, Lethargy, Slurred speech |
ORPHA:247525 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Bradykinesia, Optic atrophy, Distal sensory impairment, Depression, Parkinsonism with favorable r... |
ORPHA:254886 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Broad-based gait, Sensorineural hearing impairment, Cerebellar atrophy, Elevated circulating crea... |
OMIM:618098 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... |
OMIM:137440 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Depression, Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, At... |
OMIM:614307 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... |
OMIM:606703 |
| Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia |
OMIM:609306 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Autism, Susceptibility To, 3 |
|
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy |
OMIM:608049 |
| Ataxia-Telangiectasia-Like Disorder |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,... |
ORPHA:251347 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Cerebellar atro... |
ORPHA:280763 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Delayed menarche... |
ORPHA:330050 |
| Perrault Syndrome 1 |
|
Sensorineural hearing impairment, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Spas... |
OMIM:233400 |
| Waardenburg Syndrome, Type 2E |
|
Hypertonia, Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morpho... |
OMIM:611584 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Dystonia, Choreoathetosis, Lethargy |
ORPHA:79312 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:618147 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... |
OMIM:618877 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia |
OMIM:614229 |
| Peroxisome Biogenesis Disorder 6B |
|
Limb ataxia, Distal sensory impairment, Sensorineural hearing impairment, Cerebellar atrophy, Imp... |
OMIM:614871 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Difficulty walking, EEG with abnormally slow frequencies, Abnormality of extrapyramidal motor fun... |
ORPHA:280219 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Vertigo, Cerebellar vermis atrophy, Tinnitus, Ataxia, Dystonia, Hemiplegia |
ORPHA:97 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis, Aggressive behavior |
ORPHA:329284 |
| Spinocerebellar Ataxia Type 6 |
|
Babinski sign, Progressive cerebellar ataxia, Incoordination, Blepharospasm, Gait ataxia, Choking... |
ORPHA:98758 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Tremor, Bilateral sensorineural hearing impairment, Dystonia, Ataxia, Dysphagia, C... |
OMIM:619422 |
| Spinocerebellar Ataxia 13 |
|
Limb ataxia, Optic atrophy, Progressive cerebellar ataxia, Spasticity, Cerebellar atrophy, Impair... |
OMIM:605259 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Hyperkinetic movements, Lethargy, Gait disturbance |
OMIM:236270 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Hearing impairment, Dysto... |
OMIM:611390 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Tremor, Lethargy |
ORPHA:276608 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased moto... |
OMIM:180800 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Hypsarrhythmia, Chorea, Bilateral sensorineural hearing impairment, Gait ataxia, Dystonia, Ataxia... |
OMIM:618321 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Sensorineural hea... |
OMIM:614739 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Babinski sign, Intention tremor, Head titubation, Ataxia, Dysmetria |
OMIM:618688 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Progressive hearing impairment, Tremor, Facial palsy, Abnormal... |
ORPHA:97229 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Difficulty walking, Broad-based gait, Tremor, Low-set ears, Spastic paraplegia |
ORPHA:477673 |
| Spinocerebellar Ataxia 21 |
|
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... |
OMIM:607454 |
| Smith-Magenis Syndrome |
|
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperactivity, Head-banging, ... |
OMIM:182290 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Hyperkinetic movements, Sensory axonal neuropathy, Absent internal auditory canal, Gait disturban... |
OMIM:620469 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... |
OMIM:619911 |
| Spinocerebellar Ataxia 34 |
|
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Int... |
OMIM:133190 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Impaired vibrato... |
OMIM:615491 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Broad-based gait... |
OMIM:617854 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Cereb... |
OMIM:208920 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... |
OMIM:612438 |
| Developmental And Epileptic Encephalopathy 6B |
|
Chorea, EEG with spike-wave complexes (>3.5 Hz), Ataxia, Motor stereotypy, Multifocal epileptifor... |
OMIM:619317 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Distal sensory impairment, Progressive sensorineural hearing impairment, Sensorine... |
OMIM:607736 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial... |
ORPHA:420492 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... |
ORPHA:3240 |
| Parkinson Disease 21 |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism |
OMIM:616361 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal proprioce... |
OMIM:162400 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation... |
OMIM:607694 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... |
ORPHA:363654 |
| Gorham-Stout Disease |
|
Hearing impairment, Torticollis, Abnormality of the internal auditory canal, Chiari type I malfor... |
ORPHA:73 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Progressive spasticity, Gait ataxia, Macrotia, Failure to thrive, Dysphagia, M... |
DECIPHER:45 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, Brain atrophy, Tremor, Low-set ears, Decreased b... |
OMIM:618342 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Hyperkinetic movements, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Spasticit... |
OMIM:300957 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Macrotia, Stereotypical hand wringing |
ORPHA:397933 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral hypomyelination, Decreased nerve conduction velocity, Distal sensory impairment, Torti... |
OMIM:609136 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han... |
ORPHA:544254 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... |
OMIM:604391 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Sensorineural hearing impairment, Cerebellar vermis atrophy, Tongue fasciculations... |
OMIM:618170 |
| Typhoid |
|
Hypertonia, Tremor, Ataxia, Lethargy |
ORPHA:99745 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Gait ataxia, Abno... |
OMIM:618800 |
| Crouzon Syndrome |
|
Optic atrophy, Hearing impairment, Conductive hearing impairment, Chiari malformation, Cerebellar... |
ORPHA:207 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Dysphagia, Parkins... |
OMIM:261640 |
| Otosclerosis 8 |
|
Hearing impairment, Otosclerosis |
OMIM:612096 |
| Otosclerosis 3 |
|
Hearing impairment, Otosclerosis |
OMIM:608244 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Babinski sign, Decreased sensory nerve conduction velocity, Sensorineural hearing impairment, Cer... |
OMIM:616192 |
| Medulloblastoma |
|
Progressive cerebellar ataxia, Cerebellar ataxia associated with quadrupedal gait, Abnormal crani... |
ORPHA:616 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O... |
ORPHA:370022 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Oculomotor apraxia, Rigidity, Dysphagia, Hypogonadism, Impaired proprioception, Difficulty walkin... |
ORPHA:412057 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Obsessive-compulsive trait, Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fin... |
ORPHA:36387 |
| Piebald Trait With Neurologic Defects |
|
Hearing impairment, Ataxia |
OMIM:172850 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella... |
OMIM:618598 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ... |
ORPHA:96 |
| Febrile Infection-Related Epilepsy Syndrome |
|
EEG abnormality, Lethargy |
ORPHA:163703 |
| Perry Syndrome |
|
Inappropriate behavior, Bradykinesia, Akinesia, Depression, Tremor, Rigidity, Dystonia, Disinhibi... |
OMIM:168605 |
| 4H Leukodystrophy |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper mo... |
ORPHA:289494 |
| Inherited Creutzfeldt-Jakob Disease |
|
Bradykinesia, Babinski sign, Akinetic mutism, Progressive cerebellar ataxia, Spastic dysarthria, ... |
ORPHA:282166 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic... |
OMIM:614487 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy |
OMIM:172700 |
| Crigler-Najjar Syndrome |
|
Hearing impairment, Vertigo, Lethargy |
ORPHA:205 |
| X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Spasticity, Gait disturb... |
ORPHA:163937 |
| Friedreich Ataxia |
|
Limb ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Gait imbalance, Inability to ... |
ORPHA:95 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... |
ORPHA:352649 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Abnormal cranial nerve... |
ORPHA:247234 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Babinski sign, Spasticity, Spastic tetraparesis, Gait disturbance, Ataxia, Loss of ambulation, Le... |
OMIM:615838 |
| Gaba-Transaminase Deficiency |
|
Lethargy, EEG with burst suppression |
OMIM:613163 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involun... |
ORPHA:401768 |
| Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism |
OMIM:260540 |
| Spinocerebellar Ataxia Type 19/22 |
|
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... |
ORPHA:98772 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Dysphagia, Myocl... |
OMIM:159950 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Bradykinesia, Babinski sign, Generalized dystonia, Torticollis, Depression, Abnormality of extrap... |
ORPHA:98808 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Akinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia,... |
OMIM:300894 |
| Bor Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... |
ORPHA:107 |
| Spinocerebellar Ataxia 27A |
|
Abnormal vestibulo-ocular reflex, Limb ataxia, Depression, Gait ataxia, Postural tremor, Impaired... |
OMIM:193003 |
| Parkinson Disease 14, Autosomal Recessive |
|
Pill-rolling tremor, Bradykinesia, Eyelid myoclonus, Axial dystonia, Resting tremor, Depression, ... |
OMIM:612953 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Cere... |
ORPHA:529665 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Lethargy |
OMIM:602390 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,... |
ORPHA:542310 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... |
OMIM:600430 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment, Dysphagia |
OMIM:607734 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism, Rigidity |
OMIM:614251 |
| Idiopathic Intracranial Hypertension |
|
Depression, Vertigo, Papilledema, Pulsatile tinnitus, Lethargy |
ORPHA:238624 |
| Oculopharyngodistal Myopathy 3 |
|
Sensorineural hearing impairment, Tremor, Conductive hearing impairment, Ataxia, Dysphagia |
OMIM:619473 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Tremor, Athetosis, Ataxia, EEG abnormality |
OMIM:617106 |
| Spinocerebellar Ataxia Type 13 |
|
Bradykinesia, Limb ataxia, Optic atrophy, Difficulty walking, Torticollis, Impaired distal vibrat... |
ORPHA:98768 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Babinski sign, Steppage gait, Distal sensory impairment, Sensorineural hearing impairment, Optic ... |
ORPHA:101076 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Optic atrophy, Steppage gait, Babinski sign, Bradykinesia, Sensory axonal neuropathy... |
OMIM:258450 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Difficulty walking, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow acti... |
ORPHA:442835 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Sensorineural hearing impairment, Cerebellar dysplasia |
OMIM:616490 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Babinski sign, Cerebellar atrophy, Bilateral sensorineural hearing impairment, Sensory ataxia, Ga... |
ORPHA:445062 |
| Myopathy, Mitochondrial, And Ataxia |
|
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Depression, Trunca... |
OMIM:617675 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... |
ORPHA:240071 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Paraplegia, Ataxia, Motor stereotypy, Lethargy |
ORPHA:927 |
| Boucher-Neuhauser Syndrome |
|
Spinocerebellar atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Ataxia |
OMIM:215470 |
| Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Depression, Tremor, Abnormal autonomic nervous system physiology, R... |
OMIM:168600 |
| Crigler-Najjar Syndrome Type 1 |
|
Hearing impairment, Tremor |
ORPHA:79234 |
| Ogden Syndrome |
|
Hypertonia, Torticollis, Low-set ears, Shuffling gait, Macrotia, Abnormal head movements, Lethargy |
ORPHA:276432 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Babinski sign, Optic atrophy, Spasticity, Shuffling gait, Frequent falls, Gait dist... |
ORPHA:289560 |
| Hypermanganesemia With Dystonia 2 |
|
Tip-toe gait, Babinski sign, Bradykinesia, Oromandibular dystonia, Generalized dystonia, Scissor ... |
OMIM:617013 |
| Young-Onset Parkinson Disease |
|
Bradykinesia, Agitation, Gait imbalance, Depression, Spasticity, Tremor, Abnormal autonomic nervo... |
ORPHA:2828 |
| Developmental And Epileptic Encephalopathy 110 |
|
Chorea, Low-set ears, Macrotia, Pain insensitivity, Bruxism, Continuous spike and waves during sl... |
OMIM:620149 |
| Xq21 Microdeletion Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Dysdiadochokinesis,... |
ORPHA:1435 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Agenesis of corpus callosum |
OMIM:109120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Akinesia, Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Hyperalaninem... |
OMIM:618249 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cerebral atrophy, Difficulty walking, Spasticity, Failure to thrive, Motor stereotypy |
OMIM:617393 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy |
OMIM:612069 |
| Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... |
OMIM:615530 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Tremor, Cerebellar atrophy, ... |
OMIM:616505 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab... |
OMIM:618060 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor |
OMIM:619724 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Dysphagia |
OMIM:313200 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Cerebellar hypoplasia |
OMIM:619556 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Babinski sign, Spasticity, Titubation, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibr... |
ORPHA:459056 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Agenesis of corpus... |
ORPHA:990 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormalit... |
OMIM:610042 |
| Spinocerebellar Ataxia Type 42 |
|
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Resting tremor, Depression, ... |
ORPHA:458803 |
| Apert Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Agenesis of corpu... |
ORPHA:87 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... |
ORPHA:909 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Babinski sign, Limb fasciculations, Sensorineural hearing impairment, Facial palsy... |
ORPHA:137867 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Limb hypertonia, Inability to walk, Chorea, Cerebral cortical atrophy, Macro... |
OMIM:618004 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hyperkinetic movements, Tremor, Gait disturbance, Macrotia, Upper limb spasticity, Motor stereoty... |
ORPHA:457240 |
| Insulinoma |
|
Hearing abnormality, Abnormality of pain sensation, Tremor, Polyphagia, Lethargy, Paresthesia |
ORPHA:97279 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Limb hypertonia, Tongue thrusting, Cerebellar atrophy, Recurrent hand flapping... |
OMIM:619580 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Hearing impairment, Macrotia, Hypsarrhythmia, Motor stereotypy |
OMIM:619877 |
| 7Q31 Microdeletion Syndrome |
|
Childhood onset sensorineural hearing impairment, Torticollis, Low-set ears, Speech apraxia, Hypo... |
ORPHA:251061 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus, Lethargy |
OMIM:614299 |
| Spinocerebellar Ataxia Type 8 |
|
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... |
ORPHA:98760 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Limb ataxia, Babinski sign, Lower limb spasticity, Sensorineural hearing impairment, Truncal atax... |
ORPHA:100986 |
| Benign Samaritan Congenital Myopathy |
|
Fasciculations, Lethargy |
ORPHA:324581 |
| Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting |
OMIM:300624 |
| Optic Atrophy 11 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... |
OMIM:617302 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... |
ORPHA:168491 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hypertonia, Hyperactivity, Spasticity, Low-set ears, Cerebral palsy, Compulsive behaviors, Motor ... |
ORPHA:352490 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Glutathionuria |
|
Action tremor, Dysdiadochokinesis, Tremor |
OMIM:231950 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Spasticity, Ataxia, Lethargy |
ORPHA:2394 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Babinski sign, Oromandibular dystonia, Depression, Abnormality of extrapyramidal m... |
OMIM:614298 |
| Progressive Supranuclear Palsy |
|
Bradykinesia, Falls, Depression, Vertigo, Tremor, Blepharospasm, Impulsivity, Rigidity, Dystonia,... |
ORPHA:683 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors, Low-set ... |
OMIM:620021 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Difficulty walking, Broad-based gait, Spasticity, Gait ataxia, Dystonia, Motor ste... |
OMIM:617807 |
| Primary Progressive Freezing Gait |
|
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... |
ORPHA:75567 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lower limb spasticity, Appendicular spasticity, Spasticity, Upper limb spasticity, Lethargy |
OMIM:611523 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Sensorineural hearing impairment, Tremor, Gait disturbance, Cerebral cortical atrophy... |
ORPHA:1192 |
| Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Tetraplegia, Cerebellar atrophy, Obesity, Dystonia, Ataxia, Abnormal pyramida... |
OMIM:616267 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... |
OMIM:618825 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy |
ORPHA:530983 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Lethargy |
OMIM:618120 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Recurrent otitis media, Cerebellar vermis hypoplasia, Sensor... |
OMIM:617751 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Difficulty walking, Hypervalinemia, Abnormality of extrapyramidal motor function, ... |
OMIM:615673 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Difficulty walking, Lower limb spasticity, Tremor, Absent brainstem auditory respo... |
ORPHA:90321 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Oculogyric crisis, Blepharospasm, Li... |
ORPHA:306674 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... |
ORPHA:228402 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Sensorineural hearing impairment, ... |
OMIM:157640 |
| Chronic Bilirubin Encephalopathy |
|
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypertonia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cerebral palsy... |
ORPHA:529799 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxi... |
OMIM:614381 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity... |
OMIM:617600 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ... |
OMIM:618056 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Gait disturbance, Ataxia, Progressive spastic paraplegia |
OMIM:612020 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma... |
ORPHA:70594 |
| Spinocerebellar Ataxia 10 |
|
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis... |
OMIM:603516 |
| Holocarboxylase Synthetase Deficiency |
|
Anorexia, Ataxia, Lethargy |
ORPHA:79242 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Sensorineural hear... |
ORPHA:99949 |
| Parkinson Disease 1, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Depression, Shuffling gait, Gait disturbance, Rigidity, Dystonia, L... |
OMIM:168601 |
| Usher Syndrome Type 2 |
|
Sensorineural hearing impairment, Ataxia, Aplasia/Hypoplasia of the cerebellum, Abnormality of th... |
ORPHA:231178 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Lower limb spasticity, Titubation, Failure to thrive, Dyst... |
ORPHA:280210 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... |
OMIM:620292 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bradykinesia, Hypertonia, Facial palsy, Resting tremor, Depression, Abnormality of extrapyramidal... |
ORPHA:254892 |
| East Syndrome |
|
Peripheral hypomyelination, Difficulty walking, Inability to walk, Hypokalemia, Sensorineural hea... |
ORPHA:199343 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Babinski sign, Gait imbalance, Oculomotor apraxia, Head tremor, Dystonia, Ataxia, Dysphagia, Abno... |
ORPHA:64753 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Spasticity, Lethargy, Gait disturbance, Poor coordination |
OMIM:250940 |
| Leukoencephalopathy With Ataxia |
|
Limb ataxia, Action tremor, Gait ataxia |
OMIM:615651 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Ataxia, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Ataxia, Lethargy, Hypogonadism |
OMIM:201100 |
| Central Diabetes Insipidus |
|
Polydipsia, Depression, Lethargy, Anorexia |
ORPHA:178029 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Cachexia, Elevated circula... |
ORPHA:1933 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Low-set ears, Lethargy |
OMIM:610498 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Limb ataxia, Paraplegia, Sensorineural hearing impairment, Truncal ataxia, Tremor, Spasticity, Im... |
OMIM:105210 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment, Failure to thrive, S... |
OMIM:193700 |
| Migraine, Familial Hemiplegic, 2 |
|
Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme... |
OMIM:602481 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Lethargy |
OMIM:237300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Depression, Gait ataxia, Hearing impairment, Ataxia, Dysphagia |
OMIM:613077 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Tongue thrusting, Gait ataxia |
OMIM:620393 |
| Perry Syndrome |
|
Depression, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Apathy |
ORPHA:178509 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation |
ORPHA:209335 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Bruxism |
OMIM:300434 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... |
OMIM:616586 |
| Tick-Borne Encephalitis |
|
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Elevated circulating C-reacti... |
ORPHA:297 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... |
OMIM:619428 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Low-set ears, Compulsive behaviors, Ataxia, Posteriorly rotated ears, Motor stereo... |
OMIM:618430 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor... |
OMIM:606002 |
| Ataxia With Vitamin E Deficiency |
|
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... |
OMIM:277460 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... |
ORPHA:411986 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
| Maple Syrup Urine Disease, Type Ia |
|
Hypertonia, Ataxia, Lethargy |
OMIM:248600 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Lethargy |
ORPHA:30925 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... |
ORPHA:50815 |
| Coffin-Siris Syndrome 6 |
|
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... |
OMIM:617808 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Absence of acoustic reflex, Sensorineural hearing impairment, Tremor, Hypergonadotrop... |
OMIM:619737 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, M... |
ORPHA:363400 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Sensorineu... |
ORPHA:447753 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... |
OMIM:613280 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Loss of ambulation, Dystonia |
OMIM:615010 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Hypogonadism, Lethargy, Impotence |
ORPHA:79230 |
| Potocki-Lupski Syndrome |
|
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, EEG abnormality |
OMIM:610883 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Fasciculations, Impaired pain sensation, Tremor, Impaired distal ... |
OMIM:619574 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Low-set ears, Decreased... |
OMIM:300260 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Difficulty walking, Decreased nerve conduction velocity, Depression, Fasciculations, Tremor, Faci... |
ORPHA:329478 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Babinski sign, Sensorineural hearing impairment, Spasticity, Tremor, Neurogenic bladder, Optic di... |
OMIM:618527 |
| Tay-Sachs Disease |
|
Fasciculations, Incoordination, Decerebrate rigidity, Dysphagia, Myoclonus, Clumsiness, Mania, Op... |
ORPHA:845 |
| Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Ataxia |
OMIM:300619 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Hearing impairment, Bruxism, Motor stereotypy |
OMIM:616351 |
| Pontine Tegmental Cap Dysplasia |
|
Oculomotor apraxia, Sensorineural hearing impairment, Facial palsy, Failure to thrive, Head titub... |
OMIM:614688 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... |
OMIM:617044 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Depression, EEG with focal spikes, Increased theta frequency activity in EEG... |
ORPHA:98784 |
| Saccharopinuria |
|
Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia |
ORPHA:3124 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Lower limb spasticity, Cerebellar atrophy, Gait ataxia, Spastic paraplegia |
ORPHA:139480 |
| Meningococcal Meningitis |
|
Anorexia, Hearing impairment, Papilledema, Lethargy, Paresthesia |
ORPHA:33475 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, Interictal epileptiform activity, EEG with irre... |
ORPHA:1942 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Dystonia, Lethargy |
OMIM:277410 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... |
ORPHA:98794 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Lethargy |
OMIM:613561 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Low-set ears, Hearing impairment, Motor stereotypy, Self-injurious behavior |
ORPHA:238750 |
| Postencephalitic Parkinsonism |
|
Bradykinesia, Babinski sign, Akinesia, Oculogyric crisis, Resting tremor, Depression, Tremor by a... |
ORPHA:97349 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Paroxysmal dyskinesia, Sensorineural hearing impairment, Speech apraxia, Conductive hearing impai... |
ORPHA:261197 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy |
OMIM:618504 |
| Waisman Syndrome |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... |
OMIM:311510 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... |
OMIM:216400 |
| Cockayne Syndrome B |
|
Optic atrophy, Decreased nerve conduction velocity, Severe failure to thrive, Sensorineural heari... |
OMIM:133540 |
| Rett Syndrome, Congenital Variant |
|
Apraxia, Tongue thrusting, Chorea, Spasticity, Athetosis, Dystonia, Simplified gyral pattern, Pac... |
OMIM:613454 |
| Rett Syndrome |
|
Bradykinesia, Agitation, Difficulty walking, Limb apraxia, Inability to walk, Abnormal autonomic ... |
ORPHA:778 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Truncal ataxia, Recurrent hand flapping, Low-set ears, Self-injurious behavior, Over... |
OMIM:617101 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... |
ORPHA:397612 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy |
OMIM:620502 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Nipah Virus Disease |
|
Anorexia, Tremor, Myoclonus |
ORPHA:99825 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bradykinesia, Abnormal autonomic nervous system physiology, Depression, Dysesthesia, Compulsive b... |
ORPHA:93256 |
| Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Agitation, Akinesia, Resting tremor, Depression, Parkinsonism with favorable respon... |
ORPHA:411602 |
| Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Dysphagia, Limb hypertonia |
OMIM:617162 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia, Sensorineural hearing impairment, Failure to thrive, Enlarged vestibular aqueduct, P... |
ORPHA:18 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior |
OMIM:301029 |
| Sialidosis Type 2 |
|
Hearing impairment, Tremor, Ataxia |
ORPHA:87876 |
| Neuroferritinopathy |
|
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... |
ORPHA:157846 |
| Coffin-Siris Syndrome 7 |
|
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... |
OMIM:618027 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv... |
OMIM:616393 |
| Gillespie Syndrome |
|
Cerebellar atrophy, Ataxia, Postural tremor, Cerebellar hypoplasia, Slurred speech |
OMIM:206700 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Recurrent hand flapping, Posteriorly rotated ears, Pica |
OMIM:615032 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Radio-Tartaglia Syndrome |
|
Gait imbalance, Tremor, Low-set ears, Gray matter heterotopia, Impulsivity, Hearing impairment, C... |
OMIM:619312 |
| Oromandibular Dystonia |
|
Hyperkinetic movements, Torticollis, Bruxism, Blepharospasm, Lingual dystonia, Limb dystonia, Dys... |
ORPHA:93958 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Underfolded superior helices, Hypertonia, Aganglionic megacolon, Broad-based gait, Spasticity, Ga... |
OMIM:300352 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Lethargy |
ORPHA:42 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Truncal ataxia, Facial diplegia, Motor stereotypy, Attention deficit hyperactivity disorder, Dysm... |
OMIM:619121 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Optic atrophy, Babinski sign, Akinesia, D... |
OMIM:234200 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Difficulty walking, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Optic ... |
ORPHA:502423 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Ataxia, Spastic tetraple... |
OMIM:617710 |
| Sneddon Syndrome |
|
Chorea, Hemiparesis, Tremor, Vertigo |
ORPHA:820 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Azoospermia, Depression, Tremor, Infertility, Hypergonadotropic hypogonadis... |
ORPHA:10 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Cerebellar vermis at... |
OMIM:617988 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Opisthotonus, Facial paralysi... |
OMIM:605711 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Hypertonia, Tremor, Spasticity, Rigidity |
OMIM:176500 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... |
ORPHA:313892 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Hypertonia, Ankle clonus, Hyperactivity, EEG with burst suppression, Hypsarrhythmia, E... |
OMIM:620423 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... |
OMIM:218000 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Motor stereotypy |
ORPHA:79155 |
| Citrullinemia Type Ii |
|
Hyperactivity, Tremor, Delayed menarche, Restlessness, Mania, Abnormal eating behavior, Lethargy,... |
ORPHA:247585 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior |
OMIM:619435 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar cyst, Lissencephaly, Dandy-Walker malformation, Type II lissencephaly, Agyria, Elevate... |
OMIM:613153 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Anorexia, Lethargy |
OMIM:619386 |
| Sialidosis Type 1 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Gait disturbance, ... |
ORPHA:812 |
| Bilateral Generalized Polymicrogyria |
|
Paroxysmal dyskinesia, Eyelid myoclonus, Oculogyric crisis, Oral-pharyngeal dysphagia, Spasticity... |
ORPHA:208447 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Tremor, Dysphagia |
OMIM:619790 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, St... |
OMIM:300912 |
| Biotinidase Deficiency |
|
Optic atrophy, Sensorineural hearing impairment, Optic neuropathy, Hearing impairment, Ataxia, Sp... |
ORPHA:79241 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Lethargy |
ORPHA:276556 |
| Parkinson Disease 8, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607060 |
| Biotinidase Deficiency |
|
Optic atrophy, Sensorineural hearing impairment, Ataxia, Lethargy |
OMIM:253260 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Impaired pain sensation, Low-set ears, Gait ataxia, Motor stereotypy, Overfriendliness |
OMIM:616579 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Cerebellar vermis hypoplasia, Facial palsy, Elevated circulating creatine kina... |
OMIM:613155 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Polymicrog... |
ORPHA:500159 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Cerebral atrophy, Sensorineural hearing impairment, Neurogenic bladder, Tremor, He... |
OMIM:222300 |
| Alazami Syndrome |
|
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... |
ORPHA:319671 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Sensorineural hearing impairment, Spasticity, Cerebellar atrophy, Cataplexy, Ataxia |
OMIM:604121 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce... |
OMIM:620327 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Lower limb spasticity, Upper motor neuron dysfunction, Gait disturbance, Hemipares... |
ORPHA:395 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Motor stereotypy |
ORPHA:228384 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Motor stereotypy |
OMIM:613443 |
| Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, EEG with polyspike wave complexes, EEG with pari... |
ORPHA:98889 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears, Dysphagi... |
OMIM:617802 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior |
ORPHA:391307 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Lethargy |
ORPHA:276575 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis |
OMIM:617664 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Tip-toe gait, Difficulty walking,... |
ORPHA:99956 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Oculomotor apraxia, Hyperactivity, Depression, Spasticity, Tremor, Frequent fa... |
OMIM:612716 |
| Angelman Syndrome Due To A Point Mutation |
|
Tongue thrusting, Recurrent hand flapping, Inappropriate laughter, Ataxia, Dysphagia, EEG abnorma... |
ORPHA:411511 |
| Developmental And Epileptic Encephalopathy 4 |
|
Hypsarrhythmia, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, EEG with burst ... |
OMIM:612164 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Lethargy |
ORPHA:276580 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior |
ORPHA:3306 |
| Metachromatic Leukodystrophy |
|
Tip-toe gait, Decreased nerve conduction velocity, Addictive behavior, Incoordination, Decerebrat... |
ORPHA:512 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hearing impairment, Tongue fasciculations, Lethargy, Myoclonus |
OMIM:614922 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Polyphagia, Lethargy |
ORPHA:324575 |
| Rett Syndrome |
|
Truncal ataxia, Spasticity, Cachexia, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Stere... |
OMIM:312750 |
| Trisomy 10P |
|
Small for gestational age, Low voltage EEG, Dandy-Walker malformation, EEG with focal spikes, Low... |
ORPHA:171929 |
| New-Onset Refractory Status Epilepticus |
|
Global brain atrophy, EEG with spike-wave complexes, Interictal EEG abnormality, Cerebellar edema... |
ORPHA:363558 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... |
ORPHA:163681 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation |
OMIM:300486 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Recurrent hand flapping, Compulsive behaviors, Ataxia, Motor stereotypy, Attention deficit hypera... |
OMIM:300986 |
| 22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... |
ORPHA:1727 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Recurrent otitis media, Recurrent hand flapping, Fixated interests, Attention deficit hyperactivi... |
OMIM:617788 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Elevated circulat... |
OMIM:615181 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior |
OMIM:615516 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Cri-Du-Chat Syndrome |
|
Optic atrophy, Hypertonia, Difficulty walking, Hyperactivity, Stenosis of the external auditory c... |
OMIM:123450 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive, Patent ductus arteriosus |
OMIM:614857 |
| Aceruloplasminemia |
|
Limb ataxia, Akinesia, Torticollis, Abnormal dentate nucleus morphology, Chorea, Tremor, Blepharo... |
ORPHA:48818 |
| Classic Phenylketonuria |
|
Hypertonia, Paraplegia, Tremor, Hemiplegia, Attention deficit hyperactivity disorder, Self-injuri... |
ORPHA:79254 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Protruding ear, EEG abnormality |
ORPHA:2479 |
| N-Acetylglutamate Synthase Deficiency |
|
Anorexia, Hypertonia, Lethargy, Aggressive behavior |
OMIM:237310 |
| Benign Schwannoma |
|
Abnormality of the twelfth cranial nerve, Hearing abnormality, Peripheral schwannoma, Abnormal cr... |
ORPHA:252164 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... |
ORPHA:449291 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Fasciculations, Cerebellar atrophy, Abnormal motor nerve conduction velocity, Impaired vibratory ... |
ORPHA:466768 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Abnormal pyramidal sign, Ataxia, Lethargy |
OMIM:201470 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Spastic hemiparesis, Hypsarrhythmia, Spasticity, Ataxia, Myoclonus, EEG abnormality, Ap... |
ORPHA:20 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Babinski sign, Cerebral atrophy, Resting tremor, Sensorineural hearing impairment,... |
ORPHA:314404 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Pain insensitivity, Attention defici... |
OMIM:617061 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign |
OMIM:616840 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Hearing impairment, Brain atrophy, Exaggerated startle response |
OMIM:620114 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Agitation, Tremor, Lethargy |
ORPHA:263455 |
| Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Impotence, Abnormal autonomic nervo... |
OMIM:146500 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
| Scrub Typhus |
|
Tremor, Lethargy |
ORPHA:83317 |
| Isolated Complex I Deficiency |
|
Sensorineural hearing impairment, Optic neuropathy, Ataxia, Lethargy, Optic disc pallor |
ORPHA:2609 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:28 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Oculomotor apraxia, Inability to walk, Sensorineural hearing impairment, Type II lis... |
ORPHA:300570 |
| Saethre-Chotzen Syndrome |
|
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... |
ORPHA:794 |
| Methylcobalamin Deficiency Type Cble |
|
Hearing impairment, Lower limb hypertonia, Lethargy |
ORPHA:2169 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia |
ORPHA:83629 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Sensorineural hearing impairment, Right hemiplegia, Tremor, Hypergonadotropic hypogonadism, Ataxi... |
OMIM:607426 |
| Trisomy X |
|
Premature ovarian insufficiency, Secondary amenorrhea, Depression, Tremor, Attention deficit hype... |
ORPHA:3375 |
| Mend Syndrome |
|
Limb hypertonia, Dandy-Walker malformation, Low-set ears, Abnormal auditory evoked potentials, Fa... |
ORPHA:401973 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic gait, Progressive cerebellar ataxia, Impaired vibratory sensation, Clonus, Spastic parapl... |
ORPHA:415 |
| Dihydropyrimidinase Deficiency |
|
Hyperactivity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Lethargy |
OMIM:222748 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Low-set ears, EEG abnormality, Recurrent hand flapping, Pica |
OMIM:618480 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... |
OMIM:617796 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Peripheral hypomyelination, Chronic axonal neuropathy, Hypokalemia, Sensorineural hearing impairm... |
OMIM:612780 |
| Developmental And Epileptic Encephalopathy 87 |
|
Hypsarrhythmia, Recurrent hand flapping |
OMIM:618916 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Poor fine motor coordination, Cerebellar atrophy, Poor motor coordination, Myoc... |
ORPHA:79264 |
| Adult-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... |
ORPHA:199351 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Cerebellar ... |
OMIM:610651 |
| Ataxia-Telangiectasia |
|
Spasticity, Tremor, Gait disturbance, Failure to thrive, Ataxia |
ORPHA:100 |
| Propionic Acidemia |
|
Dystonia, Lethargy, Limb hypertonia |
OMIM:606054 |
| Pettigrew Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, High-frequency hearing impairment, Stereotypical... |
OMIM:304340 |
| Childhood Absence Epilepsy |
|
Jerky head movements, Depression, Limb myoclonus, Punding, Attention deficit hyperactivity disord... |
ORPHA:64280 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Hearing impairment, Tremor, Ataxia |
OMIM:278760 |
| Trichinellosis |
|
Babinski sign, Vertigo, Facial palsy, Hemiparesis, Tinnitus, Dysphagia, Hemiplegia, Apathy, Lethargy |
ORPHA:863 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Abnormality of the outer ear, Attenti... |
ORPHA:435638 |
| Transketolase Deficiency |
|
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... |
ORPHA:488618 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Peripheral schwannoma, Sensorineural hearing impairment, Hyperesthes... |
ORPHA:637 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Impulsivity |
ORPHA:35706 |
| Mogs-Cdg |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... |
ORPHA:79330 |
| Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
| Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Bilateral sensorineural hearing impairment |
ORPHA:397744 |
| Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Lethargy |
ORPHA:95716 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Global brain atrophy, Agitation, Inability to walk, Lower limb spasticity, Spasticity, Tremor, De... |
OMIM:619229 |
| Branchiootic Syndrome |
|
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... |
ORPHA:52429 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Global brain atrophy, Inability to walk, Limb hypertonia, Sensorineural hearing impairment, Spast... |
ORPHA:457351 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Impaired temperature sensation, Infertility, Polyphagia, Skin-picking, ... |
ORPHA:398079 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Aggressive behavior, Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear |
OMIM:618914 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Bruxism, Recurrent hand flapping |
OMIM:613192 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
| Smith-Magenis Syndrome |
|
Chronic otitis media, Impaired pain sensation, Conductive hearing impairment, Motor stereotypy, A... |
ORPHA:819 |
| Cardiospondylocarpofacial Syndrome |
|
Recurrent otitis media, Low-set ears, Fusion of middle ear ossicles, Conductive hearing impairmen... |
OMIM:157800 |
| Angelman Syndrome |
|
Optic atrophy, Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recu... |
ORPHA:72 |
| Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Optic nerve hypoplasia, Dysphagia, Motor stereotypy |
ORPHA:572013 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy, Amenorrhea, Hypogonadotr... |
ORPHA:465508 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Cerebe... |
ORPHA:496641 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Compulsive behaviors, Macrotia, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:615656 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Lethargy |
ORPHA:156 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Opisthotonus, Lethargy |
OMIM:210200 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Hearing impairment, Spasticity, Ataxia, Intention tremor |
OMIM:117300 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| Schwannomatosis, Vestibular |
|
Peripheral schwannoma, Unilateral vestibular schwannoma, Vertigo, Hearing impairment, Tinnitus, A... |
OMIM:101000 |
| Chromosome 5P13 Duplication Syndrome |
|
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... |
OMIM:613174 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy |
OMIM:619064 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, Encephalocele, Hydr... |
ORPHA:220497 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor |
ORPHA:99965 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Oromandibular dystonia, Aggressive behavior, Microtia, Tremor, Compulsive behaviors, Hearing impa... |
OMIM:620494 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Low-set ears, Speech apraxia, Unsteady gait, Motor stereotypy, Attention defici... |
OMIM:618205 |
| Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Cranial nerve compression, Conductive hearing impairment, Paroxysma... |
ORPHA:94080 |
| Childhood Disintegrative Disorder |
|
Motor stereotypy |
ORPHA:168782 |
| Niemann-Pick Disease Type C |
|
Chorea, Limb dystonia, Ataxia, Dysphagia, Myoclonus, Clumsiness, Aggressive behavior, Axial dysto... |
ORPHA:646 |
| Joubert Syndrome |
|
Aganglionic megacolon, Oculomotor apraxia, Encephalocele, Hydrocephalus, Cerebellar vermis hypopl... |
ORPHA:475 |
| Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
| Joubert Syndrome 6 |
|
Ataxia, Motor stereotypy |
OMIM:610688 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy |
OMIM:301094 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Tongue thrusting, Hyperactivity, Stereotypical body rocking, Ataxia, Tics, Pica |
OMIM:617865 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Limb dystonia |
OMIM:604377 |
| Warsaw Breakage Syndrome |
|
Hearing impairment, Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear |
OMIM:613398 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Agitation, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Gait disturbanc... |
OMIM:617903 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tip-toe gait, Babinski sign, Lethargy, Frequent falls |
ORPHA:746 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Ataxia, EEG with series of foc... |
ORPHA:522077 |
| Choreoacanthocytosis |
|
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Lingual dysto... |
ORPHA:2388 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Dystonia, Dysphagia |
ORPHA:35708 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Anorexia, Lethargy |
OMIM:611590 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Microtia, Tremor, Bipolar affective disorder, Compulsive behaviors, Attention deficit hyperactivi... |
ORPHA:370079 |
| Kallmann Syndrome |
|
Erectile dysfunction, Paraplegia, Sensorineural hearing impairment, Tremor, Dyspareunia, Gait dis... |
ORPHA:478 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Depression, Tremor, Ataxia, Hypogonadism |
ORPHA:79095 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebral atrophy, Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ... |
OMIM:615356 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Impaired temperature sensation, Infertility, Polyphagia, Compulsive beh... |
ORPHA:398069 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Babinski sign, Sensorineural hearing impairment, Tongue fasciculations, Spasticity, Undetectable ... |
OMIM:252010 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Spinal dysraphism, Incomplete partition of the cochlea type II,... |
OMIM:617660 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
| Encephalitis Lethargica |
|
Parkinsonism, Tremor, Lethargy |
ORPHA:83600 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Poor fine motor coordination, Failure to thrive, Motor stereotypy, Poor coordinati... |
OMIM:620242 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Tremor, Opisthotonus |
OMIM:250800 |
| Alobar Holoprosencephaly |
|
Inability to walk, Oromotor apraxia, Depression, Sensorineural hearing impairment, Spasticity, Li... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Inability to walk, Oromotor apraxia, Depression, Sensorineural hearing impairment, Spasticity, Li... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Inability to walk, Oromotor apraxia, Depression, Sensorineural hearing impairment, Spasticity, Li... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Inability to walk, Oromotor apraxia, Depression, Sensorineural hearing impairment, Spasticity, Li... |
ORPHA:220386 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Ataxia, Lethargy |
OMIM:311250 |
| Phelan-Mcdermid Syndrome |
|
Tongue thrusting, Impaired pain sensation, Hearing impairment, Macrotia, Motor stereotypy, Protru... |
OMIM:606232 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th... |
OMIM:610706 |
| Supranuclear Palsy, Progressive, 1 |
|
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... |
OMIM:601104 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... |
OMIM:610253 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Babinski sign, Hypertonia, Spasticity, Macrotia, Failure to thrive, Inappropria... |
OMIM:615802 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Abnormality of the outer... |
OMIM:616364 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Asparagine Synthetase Deficiency |
|
Hypertonia, Global brain atrophy, Limb hypertonia, Hypsarrhythmia, Optic nerve hypoplasia, Cerebe... |
OMIM:615574 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Vertigo, Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Pallidal degeneration... |
ORPHA:25 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent otitis media, Hemidystonia, Torticollis, Tremor, Recurrent hand flapping, Speech apraxi... |
OMIM:619680 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Low-... |
ORPHA:572798 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Dystonia, Neurodegeneration, Exaggerated startle response |
ORPHA:309246 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Protruding ear, Abnormal antihelix morphology, Motor stereotypy |
ORPHA:261144 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology... |
OMIM:614866 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Hypertonia, Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia... |
OMIM:212066 |
| Transcobalamin Ii Deficiency |
|
Ataxia, Lethargy |
OMIM:275350 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Low-set, posteriorly rotated ears, Oculomotor apraxia, Encephalocele, Hydr... |
ORPHA:220493 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Large earlobe, Bruxism |
OMIM:615716 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... |
OMIM:619293 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| Citrullinemia, Classic |
|
Ataxia, Lethargy |
OMIM:215700 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... |
OMIM:619103 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor |
OMIM:605355 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Low-set ears, Ataxia, Motor stereotypy, Aggressive behavior |
ORPHA:457279 |
| Developmental And Epileptic Encephalopathy 66 |
|
Motor stereotypy |
OMIM:618067 |
| Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy |
OMIM:212140 |
| Hyperlysinemia |
|
Tip-toe gait, Hypoplastic helices, EEG with spike-wave complexes, Neck hypertonia, Hyperactivity,... |
ORPHA:2203 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Intention tremor, Action tremor, Gait ataxia, Unsteady gait, Myoclonus, Postu... |
OMIM:254900 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Opisthotonus, Infantile sensorineural hearing impairment, Lethargy, Spast... |
ORPHA:2177 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... |
OMIM:619695 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Lethargy |
OMIM:607143 |
| Developmental And Epileptic Encephalopathy 68 |
|
Cerebral cortical atrophy, Exaggerated startle response |
OMIM:618201 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Dandy-Walker malformation, Microtia, Optic nerve hypoplasia, Low-set ears, Elevate... |
OMIM:236670 |
| Houge-Janssens Syndrome 3 |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy |
OMIM:618354 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Compulsive behaviors, Gait ataxia, Failure to thrive, Motor stereotypy, Attention deficit... |
ORPHA:476126 |
| Legius Syndrome |
|
Hearing impairment, Dystonia, Chiari type I malformation, Vestibular schwannoma |
ORPHA:137605 |
| Norrie Disease |
|
Optic atrophy, Hypertonia, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal ... |
ORPHA:649 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Cerebral palsy, Opisthotonus, Lethargy |
OMIM:210210 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorly rotated ears, Ataxia, Br... |
OMIM:617804 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi... |
ORPHA:2306 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Distal Xq28 Microduplication Syndrome |
|
Absent antihelix, Microtia, Impulsivity, Stereotypical body rocking, Attention deficit hyperactiv... |
ORPHA:293939 |
| Tetanus |
|
Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Opisthotonus, Dysphag... |
ORPHA:3299 |
| Methylmalonic Aciduria, Cbla Type |
|
Tremor, Lethargy |
OMIM:251100 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ... |
ORPHA:268943 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microtia, Hearing impairment... |
ORPHA:90024 |
| White-Sutton Syndrome |
|
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... |
ORPHA:468678 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Incoordination, Microtia, Low-set ears, Lethargy |
OMIM:277380 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Exaggerated startle response, Cerebral cortical atrophy, Macrotia, EEG wi... |
OMIM:617864 |
| Alexander Disease |
|
Depression, Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiology... |
ORPHA:58 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
| Schinzel-Giedion Syndrome |
|
Hypertonia, Aganglionic megacolon, Neural tube defect, Chiari type I malformation, Hypsarrhythmia... |
ORPHA:798 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy |
OMIM:616483 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Sensorineural hearing impairment, Conductive hearing im... |
OMIM:620576 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... |
ORPHA:1001 |
| Charge Syndrome |
|
Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplasi... |
ORPHA:138 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Opisthotonus, M... |
OMIM:616271 |
| Nmda Receptor Encephalitis |
|
Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ... |
ORPHA:217253 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... |
OMIM:619575 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Chronic otitis media, Gait imbalance, Cerebellar vermis hypoplasia, Spasticity, Tremor, Low-set e... |
OMIM:300966 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Paroxysmal dyskinesia, Oral-pharyngeal dysphagia, Oculomotor apraxia, Chorea, Tremor, A... |
ORPHA:2131 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Global brain atrophy, Cervical myelopathy, Torticollis, Brain atrophy, Tremor, Rigidity, Cerebell... |
OMIM:617186 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Premature ovarian insufficiency, Orthostatic hypotension, Vertigo, Lethargy |
ORPHA:199299 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Cerebral palsy, Impulsivity, Head titubation, Ataxia, Bruxism, Aggressive behavior... |
OMIM:619475 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism |
ORPHA:1578 |
| Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use, Lethargy |
ORPHA:36238 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal earlobe morphology, Broad-based gait, Hyperactivity, Tremor, Hypogonadism, EEG abnormali... |
ORPHA:85293 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Abnormality of extrapyramidal motor function, Tremor, Low-set ears, Macrotia, Lethargy |
OMIM:277400 |
| Argininosuccinic Aciduria |
|
Ataxia, Lethargy |
OMIM:207900 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
| 7Q11.23 Microduplication Syndrome |
|
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... |
ORPHA:96121 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Tremor,... |
ORPHA:1454 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG abnormality, EEG with focal epileptiform discharges, Dysphagia, Tongue thrusting |
ORPHA:98795 |
| Niemann-Pick Disease, Type C2 |
|
Spasticity, Cataplexy, Dystonia, Ataxia, Dysphagia, Motor stereotypy |
OMIM:607625 |
| Pitt-Hopkins Syndrome |
|
Gait ataxia, Motor stereotypy, Self-injurious behavior, Thickened helices, Cupped ear |
OMIM:610954 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Microtia, Recurrent hand flapping, Polyphagia, Low-set ears, Inappropriate laughter, Ataxia, Prot... |
OMIM:156200 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... |
ORPHA:79139 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebral atrophy, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Severe failure to ... |
ORPHA:468631 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Hippocampal atrophy, Poor gross motor coordination, Low-set ears... |
OMIM:614756 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hemiparesis, Recurrent otitis media, Lethargy |
OMIM:620233 |
| Kleefstra Syndrome |
|
Chronic otitis media, Hearing impairment, Motor stereotypy, Self-injurious behavior, Thickened he... |
ORPHA:261494 |
| Holocarboxylase Synthetase Deficiency |
|
Hypertonia, Lethargy |
OMIM:253270 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... |
ORPHA:447997 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Truncal ataxia, Small earlobe, Low-set ears, Gait ataxia, Ataxia, Dysphagia, Motor stereotypy, Pa... |
OMIM:617330 |
| Serotonin Syndrome |
|
Hypertonia, Agitation, Tremor, Clonus, Rigidity, Restlessness, Myoclonus |
ORPHA:43116 |
| 47,Xyy Syndrome |
|
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Low-set ears |
ORPHA:8 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Attention deficit hyperactivity disorder, Clumsiness, Lethargy, Depression |
ORPHA:90674 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Poor fine motor coordination, Low-set ears, Ataxia, Lethargy |
ORPHA:79282 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Posteriorly rotated ears, Overfolded helix, Lethargy |
OMIM:608836 |
| Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Abnormal spermatogenesis, T... |
OMIM:208900 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| D-Glyceric Aciduria |
|
Hypsarrhythmia, Sensorineural hearing impairment, Optic nerve hypoplasia, Tongue thrusting |
OMIM:220120 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormal... |
OMIM:619005 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Abnormal pinna morphology, Bruxism, Low-set ears, Stereotypical hand wringing |
OMIM:612337 |
| Noonan Syndrome |
|
Sensorineural hearing impairment, Thickened helices, Low-set, posteriorly rotated ears, Aplasia o... |
ORPHA:648 |
| Duane Retraction Syndrome |
|
Oculomotor apraxia, Sensorineural hearing impairment, Abnormal pinna morphology, Stenosis of the ... |
ORPHA:233 |
| Cystinosis |
|
Polydipsia, Gait disturbance, Failure to thrive, Motor stereotypy, Abnormal pyramidal sign |
ORPHA:213 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy |
OMIM:300672 |
| Amoebiasis Due To Free-Living Amoebae |
|
Facial palsy, Hemiparesis, Ataxia, Restlessness, Lethargy |
ORPHA:68 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Dystonia, Neurodegeneration, Exaggerated startle response |
OMIM:272750 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
| Glycine Encephalopathy |
|
EEG abnormality, Lethargy, EEG with burst suppression |
ORPHA:407 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Limb hypertonia |
OMIM:620306 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy |
OMIM:201475 |
| Dengue Fever |
|
Lethargy |
ORPHA:99828 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620073 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy |
OMIM:251000 |
| Early Infantile Epileptic Encephalopathy |
|
EEG with spike-wave complexes, Hyperactivity, Hypsarrhythmia, Spasticity, Tremor, Uni- and bilate... |
ORPHA:1934 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Lethargy |
ORPHA:99832 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Cranial nerve compression, Conductive hearing impairment, Paroxysma... |
ORPHA:276621 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis, EEG with photoparoxysmal response |
OMIM:619777 |
| Ebola Hemorrhagic Fever |
|
Dysphagia, Lethargy |
ORPHA:319218 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
| Mercury Poisoning |
|
Anorexia, Tremor, Dystonia |
ORPHA:330021 |
| Dpagt1-Cdg |
|
Optic atrophy, Hypertonia, Akinesia, Inability to walk, Head-banging, Hypsarrhythmia, Tremor, Dif... |
ORPHA:86309 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... |
OMIM:619512 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Cerebellar cortical atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Se... |
ORPHA:521426 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Jerky head movements, Global brain atrophy, EEG with spike-wave complexes, ... |
ORPHA:369837 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebral atrophy, Spasticity, Tremor, Low-set ears, Cerebellar atrophy, Posteriorly rotated ears,... |
OMIM:614080 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Incoordination, Tremor, Ataxia, Unsteady gait, Abnormal pyramidal sign, Optic disc... |
OMIM:614947 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
| Treacher-Collins Syndrome |
|
Microtia, Abnormality of the middle ear, Blepharospasm, Conductive hearing impairment, Failure to... |
ORPHA:861 |
| Bainbridge-Ropers Syndrome |
|
Hypertonia, Inability to walk, Low-set ears, Recurrent hand flapping, Failure to thrive, Posterio... |
OMIM:615485 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... |
ORPHA:580 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy |
OMIM:609015 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy |
OMIM:301040 |
| Vici Syndrome |
|
Abnormal posturing, Failure to thrive, Cerebellar vermis hypoplasia |
OMIM:242840 |
| 9P13 Microdeletion Syndrome |
|
Recurrent otitis media, Abnormality of cartilage of external ear, Low-set ears, Attention deficit... |
ORPHA:324313 |
| Oculopharyngodistal Myopathy 1 |
|
Difficulty walking, Sensorineural hearing impairment, Tremor, Facial palsy, Ataxia, Dysphagia |
OMIM:164310 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Lethargy |
ORPHA:427 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response |
OMIM:617281 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
| Necrotizing Enterocolitis |
|
Lethargy |
ORPHA:391673 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Low-set ears, Frequent temper tantrums, Ataxia, Attention deficit hypera... |
OMIM:617062 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Recurrent otitis media, Abnormal Eustachian tube morphology, Broad-based gait, Gait ataxia, Failu... |
ORPHA:513456 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Recurrent otitis media, EEG with parietal focal spikes, EEG with central focal spikes, EEG with o... |
OMIM:301066 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:26793 |
| Pineoblastoma |
|
Paralysis, Papilledema, Lethargy |
ORPHA:251909 |
| Renal Hypoplasia, Bilateral |
|
Lethargy |
ORPHA:97362 |
| Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, Exaggerated startle response |
ORPHA:309155 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:71212 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormal pinna morphology, Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Diffuse cerebral atrophy |
ORPHA:79255 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Low-set ears, Exaggerated startle response |
OMIM:617301 |
| Methylmalonic Aciduria, Cblb Type |
|
Lethargy |
OMIM:251110 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Cerebral cortical atrophy, Attention deficit hyperactivity disorder, Abnormalit... |
ORPHA:464311 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Sensorineural hearing impairment, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Lethargy |
ORPHA:226307 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy |
ORPHA:79284 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Protruding ear, Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests,... |
OMIM:620330 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Exercise-Induced Malignant Hyperthermia |
|
Vertigo, Ataxia, Lethargy |
ORPHA:466650 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior |
ORPHA:319182 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebral atrophy, Microtia, Spasticity, Cerebellar atrophy, Impulsivity, Attention deficit hypera... |
OMIM:301030 |
| Kinsship Syndrome |
|
Brain atrophy, Spastic tetraparesis, Low-set ears, Failure to thrive, Motor stereotypy, Myoclonus... |
OMIM:619297 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
| Charge Syndrome |
|
Mixed hearing impairment, Hypocalcemia, Sensorineural hearing impairment, Microtia, Low-set ears,... |
OMIM:214800 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Hemiplegia, Lethargy |
ORPHA:137675 |
| Cholera |
|
Lethargy |
ORPHA:173 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Optic atrophy, Cerebral atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rot... |
OMIM:309590 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Cerebral cortical atrophy, Macrotia, Failure to thrive, Motor st... |
ORPHA:464306 |
| African Trypanosomiasis |
|
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Paresthesia, ... |
ORPHA:3385 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Motor stereotypy, Att... |
ORPHA:177907 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Optic atrophy, Cerebellar atrophy, Low-set ears, Exaggerated startle response |
OMIM:620451 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Low-set ears, Exaggerated startle response, Cerebral cortical atrophy, Posteriorly... |
OMIM:617527 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Low-set ears, Polyphagia, Compulsive behaviors, Facial palsy, Posteriorly rotated ... |
OMIM:615873 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... |
ORPHA:353281 |
| Floating-Harbor Syndrome |
|
Broad-based gait, Low-set ears, Cochlear malformation, Speech apraxia, Conductive hearing impairment |
ORPHA:2044 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Difficulty walking, Low-set ears, Obesity, Motor stereotypy, Overfolded helix |
OMIM:618653 |
| Monosomy 22Q13.3 |
|
Hair-pulling, Hyperactivity, Impaired pain sensation, Hearing impairment, Macrotia, Bruxism |
ORPHA:48652 |
| Meier-Gorlin Syndrome 1 |
|
Incomplete partition of the cochlea type II, Microtia, Low-set ears, Hearing impairment, Atresia ... |
OMIM:224690 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Decreased male libido, Depression, Impotence, Cranial nerve compression, Amenorrhea, Le... |
ORPHA:652 |
| Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Lethargy |
OMIM:557000 |
| Complete Atrioventricular Septal Defect |
|
Lethargy |
ORPHA:1329 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing impairment, Motor s... |
ORPHA:508498 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Dysesthesia, Orchitis, Lethargy, Aggressive behavior |
ORPHA:99826 |
| Arboleda-Tham Syndrome |
|
Chronic otitis media, Optic atrophy, Recurrent otitis media, Gait imbalance, Small earlobe, Under... |
OMIM:616268 |
| Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
| Glycerol Kinase Deficiency |
|
Low-set ears, Lethargy |
OMIM:307030 |
| Costello Syndrome |
|
Enlarged cerebellum, Chiari type I malformation, Low-set ears, Failure to thrive, Posteriorly rot... |
OMIM:218040 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Sensorineural hearing impairment, Tremor, Clonus, Dystonia, Dysphagia |
OMIM:617248 |
| 1P36 Deletion Syndrome |
|
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Pol... |
ORPHA:1606 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypertonia, Opisthotonus, Inability to walk, Motor stereotypy |
ORPHA:508533 |
| Diamond-Blackfan Anemia |
|
Microtia, Low-set ears, Lethargy |
ORPHA:124 |
| Primrose Syndrome |
|
Superiorly displaced ears, Tics, Calcification of the auricular cartilage, Hearing impairment, Ma... |
OMIM:259050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Exaggerated startle response |
OMIM:253800 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypsarrhythmia, Posteriorly rotated ears, Motor stereotypy, EEG abnormality, Overfolded helix |
OMIM:301044 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy |
OMIM:617156 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Sensorineural hearing impairment, Tremor, Low-set ears, Failure to thrive, Motor stereotypy, Simp... |
OMIM:612474 |
| Coffin-Siris Syndrome 12 |
|
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Posteriorly rotated... |
OMIM:619325 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Compulsive behaviors, Mo... |
ORPHA:534 |
| Lysinuric Protein Intolerance |
|
Oral aversion, Lethargy |
ORPHA:470 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... |
ORPHA:353277 |
| Ogden Syndrome |
|
Recurrent otitis media, Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Protruding ear |
OMIM:300855 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
EEG with generalized slow activity, Cerebellar atrophy, Exaggerated startle response |
OMIM:618367 |
| Wolf-Hirschhorn Syndrome |
|
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... |
OMIM:194190 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dy... |
OMIM:619522 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Dysphagia, Impotence, Lethargy |
ORPHA:447 |
| Fructose Intolerance, Hereditary |
|
Lethargy |
OMIM:229600 |
| Proteus Syndrome |
|
Exostosis of the external auditory canal, Cachexia, Low-set ears, Gray matter heterotopia, Macrot... |
ORPHA:744 |
| Eisenmenger Syndrome |
|
Vertigo, Lethargy |
ORPHA:97214 |
| Mowat-Wilson Syndrome |
|
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Impaired pain sensa... |
ORPHA:2152 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy |
OMIM:616682 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Recurrent otitis media, Aganglionic megacolon, Inability to walk, Broad-based gait, Impaired pain... |
ORPHA:261537 |
| Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Aggressive behavior |
OMIM:309000 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Optic atrophy, Recurrent otitis media, Aganglionic megacolon, Impaired pain sensation, Sensorineu... |
ORPHA:261552 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Optic disc pallor, Exaggerated startle response |
ORPHA:438213 |
