Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:209850 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Distal sensory impairment, Self-injurious b... |
OMIM:613641 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma... |
OMIM:613608 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal r... |
OMIM:617862 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... |
OMIM:617171 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality, Seizure, Low-set ears, Abnormal social behavior |
ORPHA:436151 |
Progressive Myoclonic Epilepsy Type 1 |
|
EEG with polyspike wave complexes, Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Inten... |
ORPHA:308 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitiv... |
OMIM:617830 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Sei... |
OMIM:300983 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Crani... |
ORPHA:268882 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma |
OMIM:162091 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... |
ORPHA:52368 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Gait ataxia |
ORPHA:423296 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chorea, Bruxism... |
OMIM:619150 |
Hsd10 Disease |
|
Ataxia, Tremor, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Seizure, Gait di... |
ORPHA:391417 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Ravine Syndrome |
|
Anorexia, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc... |
ORPHA:137831 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Optic atrophy, Seizure, Abnormal re... |
OMIM:619470 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... |
ORPHA:247245 |
Benign Adult Familial Myoclonic Epilepsy |
|
EEG abnormality, Myoclonus, Hand tremor |
ORPHA:86814 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Seizure, Dysphagia |
ORPHA:1171 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... |
ORPHA:168782 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Gingival overgrowth, Cerebral atrophy, Bruxism, Choreoathetosis, D... |
OMIM:619422 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypodontia, Limb dystonia, Hearing impairment |
OMIM:620270 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Bruxism, Downturned corners of mouth, EEG abnormality, ... |
OMIM:618718 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy, Seizure, Short philtrum, Macrotia |
OMIM:300928 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Distal sensory impairment |
OMIM:615048 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Unsteady gait, Dysphagia, Bradykinesia, Agitation, Bruxism, Abnormal repetiti... |
OMIM:617435 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressi... |
ORPHA:248111 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Inability to walk, Dysmetria, Ga... |
OMIM:618090 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, EEG abnormality, Self-injurious behavior, Seizure, Impaired social interaction... |
OMIM:617820 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypsarrhythmia |
OMIM:619561 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Shyness, Difficulty walking, Abnormal repetitive mannerisms |
ORPHA:280763 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait... |
ORPHA:208513 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors... |
OMIM:618917 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Pick Disease Of Brain |
|
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... |
OMIM:172700 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Depression, Impaired social interactions, Dysphagia |
OMIM:619738 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Inability to walk, Sensorineural hearing impairment, Optic atrophy, Cleft palate, Bifid uvula |
OMIM:618768 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicloni... |
OMIM:619317 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... |
OMIM:301029 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Impaired proprioception, Hand tremor, Gait at... |
ORPHA:101085 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... |
OMIM:612069 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Tremor, Distal sensory... |
ORPHA:90117 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait atax... |
OMIM:609425 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Chiari type I malformation, Recurrent hand flapping, Inappropriate laughter |
OMIM:618859 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at... |
ORPHA:363710 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal tongue physiology, Anteverted ears, Tremor, Abnormal ... |
ORPHA:544254 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cere... |
OMIM:618497 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f... |
ORPHA:276435 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Tremor, Protruding ear, High palate, Short philtrum, Abnormal repetitive manneri... |
OMIM:618342 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Hypertonia |
ORPHA:1368 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:101075 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... |
OMIM:239500 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Limb ataxia, Self-injurious ... |
OMIM:617695 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... |
ORPHA:454887 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus |
OMIM:616366 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... |
ORPHA:98762 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... |
OMIM:617113 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Christianson Syndrome |
|
Cerebellar atrophy, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Aplasia/Hypop... |
ORPHA:85278 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Abnormal repetitive ... |
OMIM:617393 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Atonic seizure, Infantile spasms, Prominent ear helix, Inability to wal... |
ORPHA:411986 |
N-Acetylaspartate Deficiency |
|
Short attention span, Seizure, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Athetosis, Recurrent hand flapping, Gait disturbance |
OMIM:618141 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Seizure, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, ... |
OMIM:614254 |
Developmental And Epileptic Encephalopathy 63 |
|
Thin upper lip vermilion, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seiz... |
OMIM:617976 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Ataxia, Thick lower lip vermi... |
OMIM:614104 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Clonic seizure, Sensorineural hearing impairment, C... |
ORPHA:79097 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Impaired pain sensation |
ORPHA:101078 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:615157 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hereditary Geniospasm |
|
EEG abnormality, Chin myoclonus, Abnormal lower lip morphology, Abnormal social behavior, Intenti... |
ORPHA:53372 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosu... |
ORPHA:561854 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Hyperactiv... |
ORPHA:1929 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Distal sensory impairment, Hype... |
OMIM:609260 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:601338 |
Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... |
OMIM:618347 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Tremor, Interictal epileptiform activity, EEG with polyspike wave com... |
ORPHA:1942 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Cln5 Disease |
|
Generalized-onset seizure, Tremor, Dysmetria, EEG with focal spikes, Hyperactivity, Ataxia, Atrop... |
ORPHA:228360 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Clonic seizure, Gait ataxia, Choreoathetosis, Opisthotonus, Myoclonic seizure, Abnormal repetitiv... |
OMIM:619580 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hyp... |
OMIM:619877 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, EEG with spike-wave complexes, Ataxia, Myoclonus |
OMIM:614018 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, High, narrow palate, Seizure, Low-set ears, C... |
ORPHA:444002 |
Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... |
OMIM:617302 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Seizure, Thick vermilion border, Abnormal temper tantrums, ... |
ORPHA:530983 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Usher Syndrome Type 1 |
|
Ataxia, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea mor... |
ORPHA:231169 |
Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure |
OMIM:615282 |
Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, Impaired pain sensation... |
OMIM:182290 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Tented upper lip vermilion, Generalized-onset seizure, Optic atrophy, Gait atax... |
OMIM:617807 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... |
ORPHA:99027 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi... |
ORPHA:79263 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation, Cerebellar dysplasia |
ORPHA:457240 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Ataxia, Inability to walk, Choreoathetosis, EEG abnormality, Self-injur... |
OMIM:618218 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Irregular dentition, Ataxia, Abnormal auditory evoked pote... |
OMIM:619260 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... |
ORPHA:95433 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Posteriorly rotated ears, Infantile spasms, Conical tooth, Aggressive behavior, To... |
OMIM:617773 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Sei... |
OMIM:620292 |
Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Thick lower l... |
OMIM:618004 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:608049 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... |
ORPHA:208447 |
Atypical Rett Syndrome |
|
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Impaired pain sensation, T... |
ORPHA:3095 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto... |
OMIM:606703 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Abnormal nerve conduction velocity |
ORPHA:99014 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, High palate, Lo... |
OMIM:617523 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Decreased nerve conduction velocity, Cleft palat... |
OMIM:618356 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Self-mutilation,... |
OMIM:123450 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phonic tics, Seizure,... |
OMIM:301107 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Spinocerebellar Ataxia 50 |
|
Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... |
ORPHA:382 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Hyperactivity, Optic atrophy, Cerebral atrophy |
OMIM:274270 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:607734 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria, Depression, Attentio... |
OMIM:620242 |
Xq28 (MECP2) duplication |
|
Narrow mouth, Inability to walk, Gait ataxia, Death in childhood, Seizure, Dysphagia, Macrotia, A... |
DECIPHER:45 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Tented upper lip vermilion, Self-biting, Downturned corners of mouth, Short philtrum, Abnormal re... |
OMIM:300912 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Cleft palate, Seizure, High palate, Compulsive behaviors, Low-set ears, Attention deficit hyperac... |
OMIM:620021 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Glossitis, Gen... |
OMIM:234500 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spasticity |
OMIM:617810 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... |
OMIM:271980 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... |
OMIM:300614 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bradykinesia, Pontocerebellar atrophy, ... |
OMIM:617854 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... |
OMIM:300486 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, High, narrow palate, Deep philtrum, Cleft palate, Seizure, Short philtr... |
OMIM:617808 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Aggressive behavior, Downturned... |
OMIM:617752 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Natal tooth, Inability to walk, Focal-onset seizure, Cerebral atrophy, Dyspha... |
OMIM:617802 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Optic atrophy, Narrow pal... |
ORPHA:313892 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Sensorineural hearing impairme... |
OMIM:609924 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B... |
ORPHA:369939 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Anteverted ears, Dental malocclusion, Macrotia, Abnormal repe... |
OMIM:615541 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Blepharospasm, Cho... |
OMIM:606159 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Uns... |
ORPHA:485350 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-cloni... |
OMIM:618067 |
Angelman Syndrome |
|
Tremor, Widely spaced teeth, Hyperactivity, Ataxia, Tongue thrusting, EEG abnormality, Seizure, M... |
ORPHA:72 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300558 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Narrow mouth, Repetitive compulsive behavior, Seizure, Short philtrum, Compulsive ... |
ORPHA:352490 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repet... |
ORPHA:79264 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Dental crowding, Oral-pharyngeal dysphagia, Dental malocclusion, Wide mouth, EEG a... |
OMIM:610883 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia |
OMIM:617916 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Seizure, Parest... |
ORPHA:93921 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Aggressive behavior, Abnormal repetitive mannerisms, Scissor gait, Trun... |
OMIM:619121 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior, Orofacial cleft, Seizure, Hearing impairment |
ORPHA:457260 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Tremor, Widely spaced teeth, Abnormal repetitive mannerisms, Amelogen... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dys... |
OMIM:617751 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Seizure, Short philtrum, Frontal cortical atrophy, Abnormal repetitive ma... |
ORPHA:228384 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Urocanic Aciduria |
|
Gait ataxia, Ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Tremor, High, narrow palate, High palate, Short philtrum, Conductive hearing imp... |
OMIM:619312 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Inability to walk, Downturned corners of mouth, Lobulated tongue, Seizu... |
OMIM:613443 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Tented upper lip vermilion, Ataxia, Tonic seizure, Repetitive compulsive beha... |
OMIM:300260 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... |
ORPHA:504476 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor |
OMIM:610185 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Tented upper lip vermilion, Hyperactivity, Bilateral tonic-clonic s... |
OMIM:617281 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Tented upper lip vermilion, Focal impaired awareness hemiclonic seizure, Chor... |
OMIM:620149 |
Intellectual Disability, Birk-Barel Type |
|
Hyperactivity, Tented upper lip vermilion, Fatigable weakness of skeletal muscles, Fatiguable wea... |
ORPHA:166108 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Inability to wa... |
OMIM:103050 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Tremor, Downturned corners of mouth, Self-injurious behavior, Seizu... |
ORPHA:238750 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait, Cleft upper lip, Aggressive behavior, Cleft palate, Seizure, Bif... |
OMIM:300958 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Seizure, Progressive gait ataxia... |
ORPHA:309256 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady ga... |
ORPHA:35069 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Thin upper lip vermilion, Hyperactivity, Dystonia, Ataxia, Impulsivity, Aggress... |
OMIM:616977 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait, Impaired vi... |
OMIM:616795 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, At... |
OMIM:618430 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
White-Sutton Syndrome |
|
Hypoglycemic seizures, Downturned corners of mouth, Short philtrum, High palate, Tics, Abnormal r... |
OMIM:616364 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... |
ORPHA:449291 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... |
OMIM:600430 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Pain insensitivity, Dental crowding, Aggressive behavior, Tremor, Dysph... |
OMIM:617061 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Thick ... |
OMIM:618027 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Delayed eruption of primary teeth, Abnormality of th... |
ORPHA:90321 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Multifocal epileptifo... |
ORPHA:369891 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Impaired social interaction... |
ORPHA:8 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Macrodontia, Ataxia, Polyphagia, Self-injurious behavi... |
ORPHA:228402 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Carious teeth, T... |
ORPHA:10 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Tented upper lip vermilion, Ataxia, Hyperactivity, Tremor, Chorea, ... |
OMIM:615673 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... |
ORPHA:300570 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Wide mouth, EEG abnormality, Seizure, Inappropriate laug... |
ORPHA:411515 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ataxia, Bilateral tonic-clonic seizure, High, narrow palate, Sensorineu... |
ORPHA:435638 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Ha... |
OMIM:302800 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Impaired pain sensation, Gait ataxia, High ... |
OMIM:616579 |
White-Sutton Syndrome |
|
Downturned corners of mouth, Subcortical cerebral atrophy, High palate, Short philtrum, Compulsiv... |
ORPHA:468678 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, High palate, Short philtrum, Limb dystonia, Tonic seizure, Focal hemiclonic se... |
OMIM:616973 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br... |
OMIM:618877 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Aggressive behavior, Wide mouth, ... |
OMIM:618825 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Seizure, Progressive gait ataxia, Bilateral s... |
ORPHA:309263 |
Progressive Supranuclear Palsy |
|
Impulsivity, Depression, Abnormal synaptic transmission, Dementia, Cognitive impairment, Dysphagi... |
ORPHA:683 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Prominent crus of helix, Seizure, A... |
OMIM:301013 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Intestinal malrotation... |
OMIM:113650 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Downturned corners ... |
OMIM:617796 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Seizure, A... |
ORPHA:401777 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Hyperactivity, Abnormal pinna morphology, Thick lower lip vermilion, C... |
OMIM:614607 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Cerebellar hypoplasia, Co... |
OMIM:300986 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Taurodontia, High palate, W... |
OMIM:618205 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia, Hypsarrhythmia |
OMIM:617162 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices... |
OMIM:300352 |
Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Compulsive behaviors, Abnormal social behavior, Malrot... |
ORPHA:93932 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Whistling ... |
OMIM:193700 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Cleft lip, Narrow mouth, Cleft palate, Downturned corner... |
OMIM:618089 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Premature loss of teeth, Ataxia, Seizure, Gait disturbance, Palatal tremor, ... |
ORPHA:909 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:118300 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Rett Syndrome |
|
Inability to walk, EEG abnormality, Seizure, Agitation, Abnormal autonomic nervous system physiol... |
ORPHA:778 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Choreoathetosis, Seizure, Impai... |
ORPHA:261197 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, EEG with abnormally slow frequencies,... |
ORPHA:98794 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Ataxia, Aggressive behavior, Congenital sensorineural ... |
ORPHA:96148 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Elongated superior cerebellar ped... |
OMIM:610688 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Widely spaced teeth, Bruxism, Abnormal repetiti... |
OMIM:616351 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Sensorineural hearing impair... |
ORPHA:457351 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Depression, Cognitive impairment, Att... |
ORPHA:98784 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Truncal ataxia, Limb ataxia, Gait at... |
OMIM:208920 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, EEG with spike-wave c... |
ORPHA:36387 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, EEG abnor... |
OMIM:613454 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Hypsarrhythmia, Chor... |
OMIM:612164 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Abnormal neuron morpholog... |
ORPHA:163681 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Seizure, High... |
ORPHA:3306 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Ileus, Athetosis, Seizure, Dystonia, Open m... |
ORPHA:52503 |
Alazami Syndrome |
|
Abnormal eating behavior, Wide mouth, Seizure, Thick vermilion border, Short philtrum, Widely spa... |
ORPHA:319671 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Impaired pain sen... |
ORPHA:819 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwanno... |
ORPHA:252164 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Neurogenic bladder, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Dy... |
ORPHA:496641 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Impulsivity, Seizur... |
OMIM:300143 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Seizure, Progressive gait ataxia, Bil... |
ORPHA:309271 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Abnormality of the ear, Downturned corners of mouth, EEG abnormal... |
ORPHA:391372 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Tonic s... |
OMIM:620075 |
Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Asymmetry of the mouth, Aggressive behavior, ... |
ORPHA:401973 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, EEG with persistent abnormal rhythmic activit... |
ORPHA:282166 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Self-injurious behavior, Truncal ataxia, Recurrent hand flapping, ... |
OMIM:617101 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Optic nerve hypoplasia, Generalized non-motor (absence) ... |
ORPHA:363686 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Sensorin... |
OMIM:212066 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue ... |
OMIM:220120 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Ataxia, Cleft palate, Seizure, Impaired social interactions, Compulsive beha... |
OMIM:615656 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Chiari malformation, Low frustration tolerance, Attention deficit hyperac... |
OMIM:619293 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
22Q11.2 Duplication Syndrome |
|
Cleft palate, Anterior creases of earlobe, Seizure, Compulsive behaviors, Attention deficit hyper... |
ORPHA:1727 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Optic atrophy, Cerebral atrophy, Dysmetri... |
OMIM:610217 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Seizure, Everted lower... |
ORPHA:2479 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Crouzon Syndrome |
|
Optic atrophy, Narrow palate, Conductive hearing impairment, Narrow internal auditory canal, Hear... |
ORPHA:207 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalizati... |
ORPHA:3077 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, EEG with multifocal... |
ORPHA:442835 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Cerebral... |
OMIM:616393 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Generalized-onset seizure, Facial palsy, Anorexia, Tremor, Focal-ons... |
ORPHA:297 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Narrow palate, Seizure, Febrile seizure (withi... |
OMIM:615516 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthoto... |
OMIM:617013 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls |
OMIM:210000 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Attention deficit hyperactivity disorder, Increased overbite, Macrotia, Abnormal repetit... |
OMIM:618504 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Seizure, Agitation, Abnormal autonomic nervous system physiology, Gait disturbance, Bru... |
OMIM:617903 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Limb ataxia, Hand tremor, Gait ataxia, Truncal ataxia |
ORPHA:98764 |
Schwannomatosis, Vestibular |
|
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... |
OMIM:101000 |
Branchiootic Syndrome |
|
Facial palsy, Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft pala... |
ORPHA:52429 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Confusion, Seizure, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive mann... |
ORPHA:927 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Dental malocclu... |
OMIM:606232 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Thick lower lip vermilion, Submucous cleft hard palate, Head-banging, Wide mo... |
OMIM:619103 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Enlarged cerebellum, Ataxia |
OMIM:620047 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Cleft upper lip, Sensorineural hearing impairment, Leg d... |
OMIM:607371 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... |
ORPHA:500159 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... |
OMIM:128100 |
Luscan-Lumish Syndrome |
|
Shyness, Chiari malformation, Polyphagia, Aggressive behavior |
OMIM:616831 |
Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the brainstem, Optic atrop... |
ORPHA:66634 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Self-injurious behavior, Seizure, High palate, Abnormal repetitiv... |
ORPHA:397612 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity |
OMIM:607694 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Chronic Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia |
ORPHA:477673 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Open bite, ... |
ORPHA:794 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Dysmetria, Abnormal optic disc morphology, Short philtrum, High palate, C... |
ORPHA:96121 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Dental crowding, Bilater... |
OMIM:612313 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... |
ORPHA:1435 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, High palate,... |
OMIM:619777 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vibration sensation, A... |
OMIM:606002 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Self-injurious behavior, Seizure, Thin vermilion... |
OMIM:601853 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Downturned corners of mouth, Self-injurious behavior, Seizure, High pal... |
OMIM:613174 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity |
ORPHA:542310 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Overfriendliness, Median cleft lip, Aganglionic megacolon, Hamartoma of... |
OMIM:174300 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Protruding tongue, Paroxysmal bursts of laughter, Limb t... |
OMIM:105830 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Myo... |
OMIM:616505 |
Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Bilateral tonic-clonic seizure,... |
OMIM:614207 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow mouth, Synotia, Microglossia, Narrow internal auditory ... |
ORPHA:990 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Seizure, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormality of the dentition, Aggressive behavior, Thin vermilion border, Macrotia... |
ORPHA:391307 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Clonic seizure, Protruding ear, Short philtrum, High palate, Otitis media, T... |
OMIM:619475 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Delay... |
OMIM:216400 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Delayed eruption of prima... |
OMIM:133540 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Seizure, Hi... |
ORPHA:79330 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Abnormality of the dentition, Generalized non-motor (absence) sei... |
OMIM:615802 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Kleefstra Syndrome 1 |
|
Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Protruding tongue, Aggressi... |
OMIM:610253 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Downturned corner... |
OMIM:617865 |
7Q31 Microdeletion Syndrome |
|
Torticollis, Hyperactivity, Hypoplasia of the cochlea, Dysphagia, Wide mouth, Hypoplasia of the s... |
ORPHA:251061 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Submucous cleft hard ... |
OMIM:619239 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hyp... |
ORPHA:1934 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Cerebellar hypoplasia, Nonprogressive cere... |
ORPHA:314647 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Seizure,... |
ORPHA:261144 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Ataxia, Aggressive behavior, Pyloric stenosis, Submucous cleft hard pal... |
ORPHA:457279 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tented upper lip vermilion, Seizure, Short philtrum, Abnormal repetitive mannerisms, Cerebral cor... |
ORPHA:85277 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Dysmetria, Protruding ear, Downturned corners of mouth, Gait ataxia, Hand tremor, Hipp... |
OMIM:614756 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Agitation, Ataxia, Disinhibition |
ORPHA:1020 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Exaggerated cupid's bow, Bilateral tonic-clonic seizure,... |
OMIM:619512 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Generalized-onset seizure, Dental crowding, Febrile seiz... |
OMIM:616078 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Somatic sensory dysfunction, Aggressive behavior, Progressive ... |
ORPHA:43 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... |
OMIM:312080 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto... |
ORPHA:2388 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Open bite, Tremor, Thick lower lip vermilio... |
ORPHA:85293 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Deep philtrum, Sei... |
OMIM:309520 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... |
ORPHA:240071 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Protr... |
OMIM:619695 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Inability to walk, Dysmetria, Seizure, Gait ... |
ORPHA:139396 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Mucopolysaccharidosis Type 3 |
|
Otitis media, Thickened helices, Conductive hearing impairment, Chronic otitis media, Loss of amb... |
ORPHA:581 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Generalized-onset seizure, Oculogyric crisis, Orthostatic tachycardia, H... |
ORPHA:217253 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth, Tremor, C... |
ORPHA:96263 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168600 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Thick lower ... |
OMIM:300672 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Aplasia... |
ORPHA:90024 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavi... |
ORPHA:261494 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Progressive gait ataxia, Compulsive behaviors, Limb dy... |
ORPHA:646 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Thin upper lip vermilion, Pain insensitivity, Broad-based gait, Posteriorly r... |
OMIM:617330 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Protruding ear, Myoclonic seizure, High palate, Abnormal repetitive mannerisms, Bifid uvula, Long... |
OMIM:620330 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity, Hiatus hernia |
OMIM:609727 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Tremor, Aggressive behavior, Gait ataxia, Eruption... |
ORPHA:476126 |
You-Hoover-Fong Syndrome |
|
Ataxia, Accessory oral frenulum, Cleft palate, Seizure, Paroxysmal bursts of laughter, Hearing im... |
OMIM:616954 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Depression, Bradykinesia, Agitation, Gait imbalance, Impaired social ... |
ORPHA:2828 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:620073 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Death in infancy, Posteriorly rotated ears, Intestinal malrotation, Den... |
OMIM:615485 |
Hyperlysinemia |
|
Hyperactivity, Simple febrile seizure, Tremor, Dysmetria, Opisthotonus, Seizure, Tip-toe gait, Hi... |
ORPHA:2203 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis |
ORPHA:397744 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Bilateral tonic-clonic seizure, Abnormal repetitive m... |
OMIM:619297 |
Gorham-Stout Disease |
|
Torticollis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Mucopolysaccharidosis, Type Iiid |
|
Cerebellar atrophy, Restlessness, Hyperactivity, Aggressive behavior, Thick lower lip vermilion, ... |
OMIM:252940 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Protruding tongue, Diastema, Sensorineu... |
OMIM:301040 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculomotor apraxia |
ORPHA:240094 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Cleft lip, Sensorineural hearing impairment, Unsteady gai... |
OMIM:301022 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Hemifacial spasm, Ataxia, Protruding tongue, Aggressive behavio... |
OMIM:213300 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Downturned corners of mouth, Seizure, Thin vermilion border, Compulsive behavio... |
ORPHA:1001 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hyperactivity, Posteriorly rotated ears, Narrow mouth, Cupped ear, Opti... |
OMIM:309590 |
Pitt-Hopkins Syndrome |
|
Deep philtrum, Cupped ear, Gait ataxia, Wide mouth, Self-injurious behavior, Seizure, Short philt... |
OMIM:610954 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... |
ORPHA:580 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Sei... |
OMIM:619575 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Prader-Willi Syndrome Due To Translocation |
|
Downturned corners of mouth, High palate, Compulsive behaviors, Abnormal social behavior, Abnorma... |
ORPHA:177907 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Abnormal repe... |
OMIM:301030 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:168605 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing... |
ORPHA:637 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Inability to walk, Deep philtrum, Multifocal epileptiform discharges, ... |
ORPHA:1675 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... |
OMIM:618914 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... |
OMIM:614298 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compuls... |
ORPHA:513456 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Sensorineural hearing impairment, Chorea, Abnorm... |
ORPHA:209905 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:615530 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... |
ORPHA:48818 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Hyperactivity, Bilateral tonic-clonic seizure, Selective tooth agenesis, High, narro... |
OMIM:234100 |
Hydroxykynureninuria |
|
Stomatitis, Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Dysphagia, Chore... |
OMIM:234200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Multifocal seizures, Posteriorly rotated ears, Aggressive behavio... |
OMIM:301066 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia,... |
ORPHA:468631 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp wa... |
ORPHA:522077 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Hyperactivity, Cleft palate, Protrud... |
ORPHA:3379 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Pain insensitivity, Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number... |
OMIM:256800 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Dysphagia, Hypsarr... |
ORPHA:447997 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Impaired pain sensation, EEG abnormality, Seizure, High palate, Thick vermilion ... |
OMIM:619005 |
Arboleda-Tham Syndrome |
|
Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otitis media, Small earlobe... |
OMIM:616268 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Multifocal seizures, Posteriorly rotated ears, Dental crowding, Bilater... |
OMIM:301044 |
Legius Syndrome |
|
Hyperactivity, Neurofibroma, Seizure, Vestibular schwannoma, Attention deficit hyperactivity diso... |
ORPHA:137605 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Pyloric stenosis, Protruding ear, Seizure, Gait disturbance, Fe... |
ORPHA:464306 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Simple febrile seizure, Protruding ear, Seizure, Gait disturbance, Attention d... |
ORPHA:464311 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repe... |
ORPHA:353281 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:488618 |
Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, Hypsarrhythmia, ... |
ORPHA:798 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Generalized-onset seizure, Abnormal dental morphology, Focal hemiclonic seizure... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Generalized-onset seizure, Abnormal dental morphology, Focal hemiclonic seizure... |
ORPHA:363958 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... |
ORPHA:649 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Ataxia, Tremor, Chorea, Truncal ataxia, Athetosis, EEG abnormality, Hyperkinetic ... |
OMIM:615356 |
Wiedemann-Steiner Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Dysphagia, Seizure, High palate, Lo... |
ORPHA:319182 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... |
ORPHA:642 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Submucous cleft hard palate, Cle... |
OMIM:301043 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Periodontitis, Compulsive behaviors, ... |
ORPHA:534 |
Pilarowski-Bjornsson Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Dystonia, Ataxia, Death in childhood, Seizure, Dysphagia, Abnormal repetitive m... |
OMIM:607625 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Pyloric stenosis, Sensorineural hearing impairment, Optic atro... |
ORPHA:1606 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, Hy... |
OMIM:309580 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Celiac disease, Sens... |
OMIM:619325 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Mowat-Wilson Syndrome |
|
Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth, Conductive hearing imp... |
ORPHA:2152 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Tremor, Sensorineural hearing impairmen... |
OMIM:612474 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, High palate, Otitis media, Compulsive behaviors, Conductive hearing impairment, ... |
ORPHA:353277 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, L... |
ORPHA:508498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anteriorly placed anus, High palate, Low-set ears, Difficulty walking, Overfolded helix, Abnormal... |
OMIM:618653 |
Trichothiodystrophy |
|
Reduced social reciprocity, Diffuse cerebellar atrophy, Gait ataxia |
ORPHA:33364 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Narrow mouth, Inability to walk, Gingival overgrowth, Opisthotonus, Se... |
ORPHA:508533 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Malrotation of smal... |
OMIM:194190 |
Primrose Syndrome |
|
Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Thick lower ... |
OMIM:259050 |
Ogden Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Torticollis, Generalized-onset seizure, Bi... |
OMIM:300855 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... |
ORPHA:261537 |
Williams Syndrome |
|
Tremor, Rectal prolapse, Dysmetria, Protruding ear, Compulsive behaviors, Chronic otitis media, M... |
ORPHA:904 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Carious teeth, Downturned corners of mout... |
OMIM:619522 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d... |
OMIM:601104 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abnormal repetitive manneri... |
ORPHA:261552 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Unsteady gait, Seizure, Loss of ambu... |
OMIM:616682 |
Lowe Oculocerebrorenal Syndrome |
|
Seizure, Enamel hypoplasia, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |