banner
Genes Phenotypes Help, News, Blog

Gene: Gabrb3 MGI:95621

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
Synonyms:
Gabrb-3,  beta3,  A230092K12Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gabrb3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gabrb3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... OMIM:617113
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269

The table below shows human diseases predicted to be associated to Gabrb3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gabrb3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gabrb3.

No publications found that use IMPC mice or data for Gabrb3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gabrb3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabrb3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gabrb3em1(IMPC)Ccpcz Exon Deletion Mice
Gabrb3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gabrb3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter