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Gene: Kcnq1 MGI:108083

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
potassium voltage-gated channel, subfamily Q, member 1
Synonyms:
KVLQT1,  Kcna9

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 Kcnq1 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 predicted to be associated to Kcnq1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor ne... ORPHA:401901
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, T... ORPHA:98811
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:618425
Dystonia 11, Myoclonic
Hypotonia, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beha... OMIM:159900
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Axial hypo... OMIM:617270
Episodic Ataxia, Type 1
Episodic ataxia, Vertigo, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, ... ORPHA:13
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dystonia, Paroxysma... ORPHA:98810
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Generalized hypotonia, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity OMIM:615493
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive behavior... OMIM:619150
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus, Axial hypotonia OMIM:616921
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Frequent falls, Hemiballismus, Axial hypotonia ORPHA:494526
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Hypotonia, Myoclonus, Babinski sign, Motor tics,... OMIM:500003
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigi... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Hypotonia, Aggressive behavior, Hyperactivity ORPHA:356996
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Abnormal head movements, C... ORPHA:382
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Chorea, Stereotypical hand wringing, Dystonia, Axial hypotonia OMIM:618760
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Nathalie Syndrome
Hearing impairment, Abnormal EKG OMIM:255990
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Hand tremor, Sensorineural hearing impairment, Steppage gait, Impaired d... OMIM:300905
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Hypotonia, Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Huntington Disease-Like 1
Incoordination, Chorea, Dysmetria, Rigidity, Aggressive behavior, Restlessness OMIM:603218
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Chorea, Benign Hereditary
Chorea, Frequent falls OMIM:118700
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Hearing impairment, Gait ataxia, Tremor ORPHA:217012
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Hypotonia, Oculomotor apraxia, Ataxia, Dysphagia, Cho... OMIM:620427
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Chorea, Benign Familial
Chorea OMIM:215450
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Compulsive behaviors, D... ORPHA:36899
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis OMIM:118800
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Dystonia, Opisthotonus, Parkinsonism, Apraxia, Spastic tetrapar... OMIM:619653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Acetyl-Coa Acetyltransferase-2 Deficiency
Hypotonia, Chorea, Generalized hypotonia OMIM:614055
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Abnormal exteroceptive sensation, Spasticity of facial muscles, Opisthotonus, Clonus,... OMIM:205100
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... OMIM:616515
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Hypotonia, Myoclonus, Limb hypertonia, Dystonia, P... OMIM:606703
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Hypotonia, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Ch... OMIM:616981
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto... OMIM:619738
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Tremor, Rigidity, Distal sensory impairment, Ataxia OMIM:617018
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hypertrophic cardiomyopathy, Obesity, Limb dystonia, Tremor, Aggressive behav... OMIM:620270
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Pontocerebellar Hypoplasia, Type 2C
Dystonia, Chorea OMIM:612390
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Bruxism, Chorea, Inappropriate laughter, ... OMIM:614254
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Tremor, Ataxia OMIM:213000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Axial hypotonia, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Bradyki... OMIM:618317
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Axial hypotonia ORPHA:324588
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
3-Methylglutaconic Aciduria, Type Iii
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:258501
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus, Restless legs OMIM:102300
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia, Dysphagia OMIM:618093
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Aggressive behavior, ... OMIM:607136
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... OMIM:608636
Sydenham Chorea
Inappropriate behavior, Generalized hypotonia, Chorea, Compulsive behaviors, Hemiballismus ORPHA:306731
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Dysphagia OMIM:607674
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavior, Macrotia... OMIM:616269
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Chorea, Spastic diplegia, Retrocollis, Axial dystonia, Opisthotonus, Parkinsonism, ... ORPHA:300605
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Chorea, Gait ataxia, Stereotypical hand wringing, Compulsive... OMIM:618917
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Motor tics, Athetosis OMIM:615483
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Chorea, Gait ataxia, Abnormality of extrapyramidal motor fun... ORPHA:500180
Striatonigral Degeneration, Infantile
Dystonia, Spasticity, Dysphagia, Choreoathetosis OMIM:271930
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Kinetic tremor, Impulsivity OMIM:300615
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Bilateral sen... ORPHA:90647
Huntington Disease-Like 2
Dystonia, Involuntary movements, Chorea, Parkinsonism ORPHA:98934
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Vertigo, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Involuntary movements, Spasticity, Hypotonia, Dystonia, Motor stereotypy OMIM:617820
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Juvenile Huntington Disease
Oral motor hypotonia, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Hyperactivity, Ataxia, ... ORPHA:248111
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Dystonia, Athetosis, Paroxysmal dyskinesia, Choreoathetosis ORPHA:31709
Hypermanganesemia With Dystonia 2
Spasticity, Generalized dystonia, Hypotonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opist... OMIM:617013
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Sensorineural h... ORPHA:363710
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Dysphagia, Fasciculations ORPHA:85162
Pontocerebellar Hypoplasia, Type 2B
Spasticity, Chorea, Hypotonia, Axial hypotonia, Opisthotonus, Babinski sign, Clonus, Limb hyperto... OMIM:612389
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Developmental And Epileptic Encephalopathy 27
Spasticity, Chorea, Hypotonia, Myoclonus, Dystonia, Axial hypotonia OMIM:616139
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Gastroesophageal reflux, Childhood onset sensorineural he... ORPHA:251061
Developmental And Epileptic Encephalopathy 97
Hypotonia, Tremor, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Involuntary movements, Spasticity, Generalized hypotonia, Chorea, Hyperk... OMIM:617493
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Hearing impairment, Cochlear degeneration OMIM:271250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Self-biting OMIM:619988
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... OMIM:213600
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
N-Acetylaspartate Deficiency
Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Pandas
Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-compulsive trait... ORPHA:66624
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls, Axial hypotonia OMIM:619647
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Snijders Blok-Fisher Syndrome
Spasticity, Generalized hypotonia, Opisthotonus, Facial hypotonia, Choreoathetosis OMIM:618604
Spinocerebellar Ataxia Type 2
Fasciculations, Generalized hypotonia, Chorea, Postural tremor, Gait ataxia, Parkinsonism, Kineti... ORPHA:98756
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Generalized hypotonia, Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Generalized hypotonia, Hypotonia, Gait ataxia, Recurrent hand flapping, Axial hypotonia, Opisthot... OMIM:619580
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Atrophy/De... ORPHA:99852
Spinocerebellar Ataxia 50
Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Action tremor, Ataxia OMIM:300703
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ataxia, Dyst... OMIM:615924
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Rett Syndrome
Cerebral cortical atrophy, Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Ca... OMIM:312750
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Dystonia, Restlessness, Dysphagia, Extrapyramidal dyskinesia OMIM:277470
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Vertigo, Ventricula... ORPHA:1344
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor, Generalized hypotonia OMIM:264070
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia,... ORPHA:210571
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hypotonia, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Progressive gait ataxia, Bilateral sensorineural hearing impairment, Intention tremor,... ORPHA:2589
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Tinnitus, Left ventricular hypertrophy, Prolonged QT interval, Intracrania... ORPHA:251274
Hyperprolinemia, Type I
Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Huntington Disease-Like 3
Spasticity, Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, Abnormality of ext... ORPHA:157946
Hyperphenylalaninemia, Bh4-Deficient, C
Hypotonia, Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment, Distal sensory impairment OMIM:614369
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Vertigo, Hypertrophic cardiomyopathy, Palpitations,... OMIM:608758
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma... ORPHA:52368
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Vertigo, Bradykinesia, Gait ataxia, Abnormal pyra... ORPHA:101110
Developmental And Epileptic Encephalopathy 6B
Chorea, Hypotonia, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy, Choreoa... OMIM:619317
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Spinocerebellar Ataxia, X-Linked 1
Neonatal hypotonia, Hypotonia, Action tremor, Abnormality of extrapyramidal motor function, Ataxi... OMIM:302500
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hypotonia, Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Pontocerebellar Hypoplasia, Type 2D
Chorea, Clonus, Spastic tetraplegia, Appendicular spasticity OMIM:613811
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Cerebral palsy, Hypotonia, Limb dystonia, Myoclonus, Opisthotonus, Babinski sign, Clo... OMIM:619847
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Branchiootorenal Syndrome 1
Bifid uvula, Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyr... OMIM:113650
Adenylosuccinase Deficiency
Spasticity, Generalized hypotonia, Hemiplegia, Inappropriate laughter, Hypotonia, Gait ataxia, My... OMIM:103050
Choreoathetosis, Familial Inverted
Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity OMIM:118750
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Dilated cardiomyopathy, Muscular ventricular septal defect, Action tremor, Repetit... ORPHA:66634
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Generalized hypotonia, Chorea, Gait ataxia, Dysmetria, Ataxia, Axial hypotonia OMIM:618501
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia OMIM:606438
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... ORPHA:79263
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Dysphag... ORPHA:216866
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Difficulty walking, Incoordination, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Alternating Hemiplegia Of Childhood 1
Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia OMIM:104290
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnormal pyrami... ORPHA:98759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... OMIM:607317
Developmental And Epileptic Encephalopathy 58
Generalized hypotonia, Motor stereotypy, Spastic diplegia OMIM:617830
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Chorea, Hypotonia, Dystonia, Athetosis, Spastic tetraplegia OMIM:619922
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Developmental And Epileptic Encephalopathy 103
Hypotonia, Opisthotonus, Hyperactivity, Ataxia, Eyelid myoclonus, Spastic tetraplegia OMIM:619913
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Chorea, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism, Abnorma... OMIM:617672
Baker-Gordon Syndrome
Self-injurious behavior, Involuntary movements, Neonatal hypotonia, Hyperkinetic movements, Motor... OMIM:618218
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia OMIM:615282
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, D... OMIM:600795
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Lesch-Nyhan Phenotype With Normal Hgprt
Spasticity, Choreoathetosis, Self-mutilation OMIM:308950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Noncompaction... OMIM:610198
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Generalized hypotonia ORPHA:79137
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... ORPHA:397946
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Lopes-Maciel-Rodan Syndrome
Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Axial hypotonia, Motor stereotypy, Abnor... OMIM:617435
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Tetanus
Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, Hypertonia, Dysphagia ORPHA:3299
Huntington Disease
Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Myoclonus, Agitation, Rigidity, Dystoni... ORPHA:399
Myoclonus, Intractable, Neonatal
Chorea, Hypotonia, Myoclonus, Athetosis, Dysphagia, Impaired oral bolus formation OMIM:617235
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia OMIM:224500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Spasticity, Involuntary movements, Chorea, Hypotonia, Myoclonus, Rigidity, Babinsk... OMIM:617282
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Hypotonia, Myoclonus, Axial hypotonia OMIM:619814
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
D-Glyceric Aciduria
Spasticity, Neonatal hypotonia, Hypotonia, Myoclonus, Appendicular spasticity, Opisthotonus, Tong... OMIM:220120
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:128200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal... OMIM:618718
Huntington Disease-Like 1
Involuntary movements, Abnormal head movements, Generalized hypotonia, Incoordination, Chorea, Ga... ORPHA:157941
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia OMIM:128235
Myoclonic-Atonic Epilepsy
Hypotonia, Tremor, Attention deficit hyperactivity disorder, Ataxia, Eyelid myoclonus OMIM:616421
Developmental And Epileptic Encephalopathy 84
Spasticity, Generalized hypotonia, Chorea, Opisthotonus, Babinski sign, Dystonia, Axial hypotonia OMIM:618792
Developmental And Epileptic Encephalopathy 78
Spasticity, Neonatal hypotonia, Cerebral palsy, Generalized hypotonia, Chorea, Hypotonia OMIM:618557
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Generalized hypotonia, Limb ataxia, Gait ataxia, Myoclonus, Tremor, ... ORPHA:98763
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Lesch-Nyhan Syndrome
Self-injurious behavior, Spasticity, Hypotonia, Abnormality of extrapyramidal motor function, Opi... OMIM:300322
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:300352
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Cerebral Creatine Deficiency Syndrome 2
Hypotonia, Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, ... OMIM:612736
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Tetraplegia, Ataxia, Dystonia, Episodic quadriplegia, Choreoathetosis OMIM:614820
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Sensory ataxia, Impaired vibratory sensation, Gait ataxia, Lower limb spasticity, Dysphagia, Inte... OMIM:620221
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Impaired vibration sensation in the lower limbs, Head tremor, Gait ataxia, Impaired p... ORPHA:352641
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Hypotonia, Myoclonus, Recurrent hand flapping, Attention deficit hyperact... OMIM:617600
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology OMIM:300983
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Apert Syndrome
Optic atrophy, Bifid uvula, Conductive hearing impairment, Sensorineural hearing impairment, Ecto... ORPHA:87
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Hypotonia, Positive Romberg sign, Dysmetria, Babinski sign, Ataxia, Dystonia, Dysphag... OMIM:618088
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment, Ataxia ORPHA:480
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Somatic sensory dysfunction, Abnormal EKG, Progressive gait ataxia, Dysphagia, Progressive cerebe... ORPHA:1177
Ataxia-Telangiectasia-Like Disorder
Generalized hypotonia, Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Oculomotor ap... ORPHA:251347
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Ataxia ORPHA:101075
Mepan Syndrome
Spasticity, Hemidystonia, Chorea, Hypotonia, Limb dystonia, Axial dystonia, Myoclonus, Craniofaci... ORPHA:508093
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia OMIM:612069
Developmental And Epileptic Encephalopathy 107
Hypotonia, Motor stereotypy, Appendicular hypotonia, Axial hypotonia OMIM:620033
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Vertigo, Palpitations, T-wave... ORPHA:263297
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Hypotonia, Self-injurious behavior, Stereotypical hand wringing ORPHA:397933
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Generalized hypotonia, Hypotonia, Myoclonus, Appendicular spasticity, Opis... OMIM:620352
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Dysphagia, Im... ORPHA:276435
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Torsade de pointes, Hypertrophic card... OMIM:616878
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Andersen-Tawil Syndrome
Low-set ears, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular ext... ORPHA:37553
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Impul... OMIM:619028
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Infantile axial hypotonia, Chorea, Progre... ORPHA:309246
Developmental And Epileptic Encephalopathy 17
Dystonia, Chorea, Athetosis OMIM:615473
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Hypotonia, Gait ataxia, Dysmetria, Lower limb spasticity, Oculomotor ... OMIM:604391
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Incoordination, Ataxia, Frequent falls ORPHA:79136
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dys... ORPHA:71517
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Global brain atrophy, Abnormal EKG, Sensorineural hearing impairment, Arrhythmia, ... ORPHA:480864
Chiari Malformation Type Ii
Generalized hypotonia, Hypotonia, Opisthotonus, Ataxia, Dysphagia OMIM:207950
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Sensorineural hearin... OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Sensorineural hearing impairment, Absent brainstem auditory responses, E... OMIM:617519
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Hypotonia, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity, Paroxysmal... OMIM:620445
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Hypotonia, Myoclonus, Opisthotonus, Severe muscular hypotonia, Dystonia OMIM:616672
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Ataxia ORPHA:101078
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Increased QRS voltage, Prolonged QTc interval OMIM:619040
Glutaric Acidemia I
Generalized hypotonia, Hypotonia, Rigidity, Opisthotonus, Dystonia, Choreoathetosis, Spastic dipl... OMIM:231670
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
X-Linked Non Progressive Cerebellar Ataxia
Generalized neonatal hypotonia, Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebel... ORPHA:314978
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Chorea, Myoclonus, Aggressive behavior, L... ORPHA:485350
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-banging, Velopharyngeal in... OMIM:182290
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory ... ORPHA:352675
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... ORPHA:99657
Congenital Disorder Of Glycosylation, Type Ip
Opisthotonus, Hypotonia, Neonatal hypotonia OMIM:613661
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... OMIM:620292
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Opisthotonus, Axial hypotonia, Hypertonia OMIM:616896
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Generalized hypotonia, Hypotonia, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intenti... OMIM:608029
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... OMIM:610245
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Stxbp1-Related Encephalopathy
Spasticity, Hypotonia, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Spasticity, Bruxism, Chorea, Hypotonia, Axial hypotonia OMIM:620149
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Cerebral palsy, Chorea, Babinski sign, Hypertonia, Dystonia, Choreoathetosis, Axial h... OMIM:618451
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hype... OMIM:619092
Stiff-Person Syndrome
Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Frequent falls OMIM:184850
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia ORPHA:67047
Neurodegeneration With Brain Iron Accumulation 7
Hypotonia, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia, Dysphagia, Axial hypotonia OMIM:617916
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Dysphagi... OMIM:607346
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Hypotonia, Chorea, Athetosis, Choreoathetosis OMIM:309541
Gitelman Syndrome
Polydipsia, Prominent U wave, Abnormal T-wave, Vertigo, Pericardial effusion, Palpitations, Pares... ORPHA:358
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Hypotonia, Myoclonus, Opisthotonus, Oculom... OMIM:614969
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Infantile axial hypotonia, Tremor, Ankle clonus, Babinski sign, Parkins... ORPHA:521406
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Anal atresia, Motor... OMIM:617695
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensa... ORPHA:3095
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyram... OMIM:617145
3-Methylglutaconic Aciduria Type 7
Spasticity, Hypotonia, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abn... ORPHA:445038
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... ORPHA:2590
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Combined Oxidative Phosphorylation Deficiency 4
Opisthotonus, Spasticity, Neonatal hypotonia OMIM:610678
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Generalized hypotonia, Speech apraxia,... OMIM:613670
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Familial Infantile Bilateral Striatal Necrosis
Spasticity, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity, Dystonia, Babinski... ORPHA:225154
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Schimke Syndrome
Spasticity, Choreoathetosis OMIM:312840
Xq28 (MECP2) duplication
Gastroesophageal reflux, Constipation, Dysphagia, Motor stereotypy, Macrotia DECIPHER:45
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Ile... OMIM:609136
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behav... OMIM:620021
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Generalized hypotonia, Chorea, Postural tremor, Dy... ORPHA:98755
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment... OMIM:609924
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,... ORPHA:98764
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Neonatal hypotonia, Hypotonia, Myoclonus, Tremor, Hyperkinetic movements, Opisthotonu... OMIM:616271
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Gait ataxia, Positive Romberg sign, Babinski sign, Gait disturbance, Gait instabi... OMIM:608984
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, D... ORPHA:423275
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Coffin-Siris Syndrome 6
Low-set ears, High, narrow palate, Gastroesophageal reflux, Conductive hearing impairment, Motor ... OMIM:617808
Cataract-Ataxia-Deafness Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Ataxia, Adult onset sensorineural hearing i... ORPHA:1368
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Bruxism, Hypotonia, Myoclonus, Stereotypical hand wringing, Hyperkinetic movements, Dystonia, Cho... OMIM:618497
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Developmental And Epileptic Encephalopathy 40
Spasticity, Hypotonia, Myoclonus, Spastic tetraparesis, Choreoathetosis, Axial hypotonia OMIM:617065
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Pontocerebellar Hypoplasia, Type 2E
Spasticity, Neonatal hypotonia, Myoclonus, Opisthotonus, Hypertonia, Spastic tetraplegia OMIM:615851
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infantile axial... ORPHA:225147
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Dystonia, Intention tre... OMIM:614407
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Dystoni... ORPHA:157846
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... ORPHA:420485
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Huntington Disease-Like 3
Spasticity, Chorea, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:604802
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Hypotonia, Myoclonus, Paraparesis, Ataxia, Progressive spasticit... ORPHA:726
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Impulsivity OMIM:619717
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... ORPHA:2494
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Generalized hy... OMIM:164400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Oculomotor apraxia, Ataxia, ... OMIM:208920
Pyruvate Dehydrogenase E2 Deficiency
Neonatal hypotonia, Generalized dystonia, Hypotonia, Paroxysmal dystonia, Oculomotor apraxia, Jer... OMIM:245348
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Paresthesia, Laryngeal dystonia ORPHA:94090
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Limb ataxia, Myoclonus, Truncal ataxia, Choreoathetosis OMIM:616230
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Aceruloplasminemia
Blepharospasm, Chorea, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Torticoll... OMIM:604290
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Christianson Syndrome
Gastroesophageal reflux, Inappropriate laughter, Dysphagia, Motor stereotypy, Macrotia ORPHA:85278
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... OMIM:605711
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration sensation in th... ORPHA:95433
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia ORPHA:329284
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Hearing impairment, Limb myoclonus, Hand tremor, Vertigo, Difficulty walki... ORPHA:276198
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Canavan Disease
Opisthotonus, Hypotonia, Abnormal pyramidal sign OMIM:271900
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Dysp... OMIM:261640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Generalized hypotonia, Tremor, Ataxia OMIM:619099
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Low-set ears, Attention deficit hyperactivity disorder, Pulmonary arterial hypertension, Prolonge... OMIM:620029
X-Linked Creatine Transporter Deficiency
Chorea, Hypotonia, Self-mutilation, Hyperactivity, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Chorea, Hypotonia, Paroxysmal dystonia, Hemiparesis, Limb hyper... OMIM:618004
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Ataxia OMIM:618951
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Dystonia, Spasticity, Chorea, Generalized hypotonia OMIM:613970
Potocki-Lupski Syndrome
Gastroesophageal reflux, Hearing impairment, Oral-pharyngeal dysphagia, Hypothyroidism, Hyperacti... OMIM:610883
Fg Syndrome 3
Cryptorchidism, Chronic constipation, Sensorineural hearing impairment, Hyperactivity, Pyloric st... OMIM:300406
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Volvulus, Motor stereotypy, Interictal epi... OMIM:617802
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Se... OMIM:300624
Foxg1 Syndrome
Spasticity, Bruxism, Hypotonia, Myoclonus, Stereotypical hand wringing, Hyperkinetic movements, P... ORPHA:561854
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hearing impairment, Hyperactivity OMIM:248510
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Cryptorchidism, Attention deficit hyperactivity disorder, Repetitive compulsive beh... ORPHA:352490
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Alg11-Cdg
Ataxia, Opisthotonus, Limb hypertonia, Infantile muscular hypotonia, Hypertonia, Axial hypotonia ORPHA:280071
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babinski sign, Hyperactiv... OMIM:610217
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Difficulty walking, Incoordination, Dysmetria, Sensorineural hearing i... OMIM:302800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Microtia OMIM:612138
Nasu-Hakola Disease
Spasticity, Oculomotor apraxia, Chorea, Disinhibition ORPHA:2770
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Dystonia, Spasticity, Choreoathetosis, Axial hypotonia OMIM:614249
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Abnormal EKG, Abnormal heart morphology, Hepatos... ORPHA:93400
Dpagt1-Cdg
Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Head-banging, Failure to thrive, ... ORPHA:86309
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Spinocerebellar Ataxia 47
Spasticity, Generalized hypotonia, Chorea, Dysmetria, Ataxia OMIM:617931
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Distal sensory impairment, Myoclonus, Tremor, Rigidity, Dystonia,... OMIM:606693
Developmental And Epileptic Encephalopathy 32
Hypotonia, Myoclonus, Tremor, Ataxia OMIM:616366
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Progressive conductive hearing impairment, Aggressive behav... ORPHA:529962
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Hearing impairment, Resting tremor, Incoordination, Limb ataxia, Gait ataxia... OMIM:615157
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Generalized hypotonia OMIM:618906
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Hearing impairment, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, ... OMIM:609260
Muscle Filaminopathy
Cardiomyopathy, Left ventricular hypertrophy, Abnormality of peripheral nervous system electrophy... ORPHA:171445
Gitelman Syndrome
Hypotension, Polydipsia, Vertigo, Palpitations, Paresthesia, Salt craving, Ventricular tachycardi... OMIM:263800
Hyperlysinemia
Poor motor coordination, Dysmetria, Tremor, Neck hypertonia, Opisthotonus, Clumsiness, Hyperactiv... ORPHA:2203
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Action tremor, Obsessive-compulsive trait, Attention deficit hyperactivity diso... OMIM:617665
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait,... ORPHA:544254
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal autonomic nervous syst... ORPHA:85447
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to ... ORPHA:240085
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Hsd10 Disease
Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, D... ORPHA:391417
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Hypotonia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Neurodevelopmental Disorder With Spasticity And Poor Growth
Spasticity, Generalized dystonia, Myoclonus, Opisthotonus, Babinski sign, Oculomotor apraxia, Clo... OMIM:618076
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Tre... OMIM:610185
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Torticoll... OMIM:619862
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal choreoathetosis, Paroxysmal dystonia OMIM:602066
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Hypotonia, Tetraplegia, Hypertonia OMIM:619272
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hemiballismus, Spastic tetraparesis OMIM:618567
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactiv... OMIM:614104
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Infantile Krabbe Disease
Hyperesthesia, Spasticity, Infantile axial hypotonia, Myoclonus, Ankle clonus, Opisthotonus, Lowe... ORPHA:206436
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Dysmetria, Abnormal pyramidal sign, Ataxia, Intention tremor ORPHA:48431
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Hearing impairment, Hypsarrhythmia, Motor stereotypy, Macrotia OMIM:619877
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Hypotonia, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkins... OMIM:618877
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Gm2-Gangliosidosis, Ab Variant
Spastic tetraparesis, Generalized hypotonia, Chorea, Hypotonia, Paralysis, Abnormal pyramidal sig... OMIM:272750
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy, Lobulated tongue OMIM:613443
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Generalized dystonia, Generalized hypotonia, Chorea, Hypotonia, Ataxia, Dysphagia ORPHA:70472
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Recurrent otitis medi... ORPHA:449291
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Low-set, posteriorly rotated ears, Hypogonadism, Cryptorchidism, Aggressive b... ORPHA:3306
Hsd10 Mitochondrial Disease
Spasticity, Generalized hypotonia, Hypotonia, Agitation, Aggressive behavior, Restlessness, Spast... OMIM:300438
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Congenital Disorder Of Glycosylation, Type Iibb
Low-set ears, Spasticity, Tetraparesis, Antalgic gait, Tremor, Aggressive behavior, Macrotia OMIM:620546
Hyperphenylalaninemia, Bh4-Deficient, B
Generalized hypotonia, Hypotonia, Tremor, Rigidity, Hyperkinetic movements, Severe muscular hypot... OMIM:233910
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Brachial plexus neuropathy, Reduced left ventricular ejection fraction, Chorea, Rig... ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Hypotonia, Limb dystonia, Babinski sign, Torticollis, Ataxia, Frequent falls, Choreoathetosis OMIM:619054
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized hypotonia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Generalized hypotonia, Incoordination, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria... OMIM:213200
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Ataxia OMIM:613402
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... ORPHA:99750
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... ORPHA:101085
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Bruxism, Chorea, Hypotonia, Rigidity, Lower limb spasticity, Repetitive compu... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bruxism, Tremor, Dystoni... OMIM:300055
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, Self-mutilation, Bilateral sensorineural hearing impairment, High palate,... OMIM:619422
Friedreich Ataxia
Spasticity, Chorea, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Dystoni... ORPHA:95
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Hearing impairment, Resting tremor, Postural tremor, Gait ataxia, A... OMIM:300623
Wild Type Attr Amyloidosis
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... ORPHA:330001
Myopathy With Extrapyramidal Signs
Chorea, Hypotonia, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Clonus, Hype... OMIM:615673
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Progressive spastic paraplegia, Hypotonia, Babinski sign, Facial hypotonia, Dystonia,... ORPHA:280763
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Hippocampal atrophy, Aggressive behavior, Corpus callosum atrophy, Hyperactivity, Un... OMIM:301107
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Polydipsia, Ventricular... ORPHA:369929
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov... ORPHA:93958
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Opisthotonus, Hypotonia, Generalized hypotonia OMIM:210200
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Paresthesia, Prolonged QT interval, Ventricular arrhythmia, Abnormal left ven... ORPHA:36913
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Distal sensory impairment, Dysmetria, Tremor, Steppage gait, Ataxia OMIM:618387
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block, Frontal... ORPHA:206559
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Self-injurious behavior, Recurrent hand flapping, EEG abnormality, Macrotia OMIM:617268
Friedreich Ataxia
Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Co... OMIM:229300
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism, Macrotia OMIM:618504
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Chorea, Myoclonus, Rigidity, Opisthotonus, Dystonia, Mo... ORPHA:217253
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida... OMIM:606002
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Cri-Du-Chat Syndrome
Low-set ears, Optic atrophy, Bifid uvula, Gastroesophageal reflux, Hearing impairment, Stenosis o... OMIM:123450
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation OMIM:619405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Early-Onset X-Linked Optic Atrophy
Gait ataxia, Intention tremor, Babinski sign, Dysdiadochokinesis, Choreoathetosis ORPHA:98890
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... OMIM:613507
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Self-mutilation... ORPHA:457240
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonge... OMIM:170390
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at... OMIM:608768
Auriculocondylar Syndrome 2B
Opisthotonus, Hypotonia OMIM:620458
Leukodystrophy, Hypomyelinating, 6
Spasticity, Hypotonia, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis, A... OMIM:612438
Intellectual Developmental Disorder With Autism And Macrocephaly
Recurrent hand flapping, Pica, Constipation, Posteriorly rotated ears OMIM:615032
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ... OMIM:617182
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthesia, Tremor, Distal sensor... OMIM:616719
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Pain insensitivity, Stereotypical hand wringing, Sensorineural hearing i... OMIM:600430
48,Xxyy Syndrome
Gastroesophageal reflux, Decreased testicular size, Type II diabetes mellitus, Cryptorchidism, At... ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Bilateral cryptorchidism, Pica, Asymmetry of the ears, Obsessive-compulsive trait, ... OMIM:617796
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized hypotonia, Hypotonia, Myoclonus, Ataxia, Frequent falls, Choreoathetosis, Axial hypot... OMIM:301020
Amyotrophic Lateral Sclerosis 18
Spasticity, Dysphagia, Fasciculations OMIM:614808
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Rett Syndrome, Congenital Variant
Spasticity, Neonatal hypotonia, Generalized hypotonia, Bruxism, Chorea, Apraxia, Tongue thrusting... OMIM:613454
Developmental And Epileptic Encephalopathy 67
Dystonia, Gait disturbance, Recurrent hand flapping, Athetosis OMIM:618141
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Recurrent hand flapping, Constipation, EEG abnormality, High palate, Pica OMIM:618480
Intellectual Developmental Disorder, Autosomal Dominant 51
Fixated interests, Recurrent otitis media, Unilateral cryptorchidism, Recurrent hand flapping, Cr... OMIM:617788
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Cerebellar atrophy, Positive Romberg sign, Right bundle branch block, ... OMIM:616479
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Hypotonia, Spasticity, Motor stereotypy OMIM:617393
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Large earlobe, Hypsarrhythmia, Multifocal epileptiform discharges, Motor ste... ORPHA:411986
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Abnormal fear-induced behavior, Tremor, Aggress... ORPHA:3077
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Charcot-Marie-Tooth Disease And Deafness
Tremor, Distal sensory impairment, Sensorineural hearing impairment, Steppage gait, Gait disturbance OMIM:118300
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Congestive heart failure OMIM:300886
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hypotonia, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis ORPHA:289916
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Action tremor, Distal sensory impairment, Sensorineural hearing im... ORPHA:99027
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Tremor, Fasciculations OMIM:313200
Intellectual Developmental Disorder, Autosomal Recessive 79
Broad-based gait, Incoordination, Gait ataxia, Tongue thrusting, Intention tremor OMIM:620393
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... ORPHA:90117
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Conductive hearing impairment, Sensorineural hearing impairment, Attenti... ORPHA:261197
Leukodystrophy, Hypomyelinating, 4
Spastic paraplegia, Hypotonia, Babinski sign, Head titubation, Progressive spasticity, Choreoathe... OMIM:612233
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
22Q11.2 Duplication Syndrome
Hearing impairment, Aplasia/Hypoplasia of the thymus, Anterior creases of earlobe, Attention defi... ORPHA:1727
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Hypotonia, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadocho... OMIM:618049
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Folinic Acid-Responsive Seizures
Spastic tetraparesis, Chorea, Hypertonia, Ataxia, Dystonia ORPHA:79097
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Generalized hypotonia, Hypotonia, Tremor, Babinski sign, Hyp... OMIM:128100
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Hearing impairme... ORPHA:369939
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Involuntary movements, Spasticity, Limb hypertonia, Ataxia, Dystonia, Choreoathetosis, Axial hypo... OMIM:615905
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Behr Syndrome
Dysmetria, Tremor, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g... OMIM:210000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Dysphagia, Tremor OMIM:607734
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly,... OMIM:252920
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Hypertrophi... ORPHA:391428
Ck Syndrome
Aggressive behavior, High palate, Posteriorly rotated ears, Hyperactivity ORPHA:251383
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventri... ORPHA:308552
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Fasciculations, Generalized hypotonia, Postural tremor,... OMIM:183090
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Gastroesophageal reflux, Supernumerary nipple, Overfriendliness, High palate, Motor... OMIM:616579
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Spasticity, Chorea, Limb dystonia, Axial hypotonia OMIM:616339
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Situs inversus totalis, T-wave inversion, Dextrocardia, ... ORPHA:1666
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Constipation, Hyperac... OMIM:618027
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Leukodystrophy, Hypomyelinating, 2
Spastic paraparesis, Intention tremor, Rigidity, Babinski sign, Head titubation, Ataxia, Dystonia... OMIM:608804
Trisomy 18P
High, narrow palate, Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disord... ORPHA:1715
Lennox-Gastaut Syndrome
Falls, Vertigo, Aggressive behavior, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Lissencephaly Due To Lis1 Mutation
Neonatal hypotonia, Opisthotonus, Progressive spastic quadriplegia, Tetraplegia, Axial hypotonia ORPHA:95232
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Rigidity, Aggressive behavior, Hyperactivity, Hypertonia, Choreoathetosis OMIM:620023
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oculogyric crisis, Oral-pharyngeal dysphagia, Eyelid myoclon... ORPHA:208447
Glycogen Storage Disease Ii
Sinus tachycardia, Hearing impairment, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarac... OMIM:232300
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Crypto... ORPHA:138
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Hypertonia ORPHA:3304
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hearing impairment, Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, ... ORPHA:137898
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Pontocerebellar Hypoplasia, Type 8
Involuntary movements, Spasticity, Generalized hypotonia, Chorea, Hypotonia, Gait ataxia, Hyperto... OMIM:614961
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Hepatomegaly, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia,... OMIM:613327
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Dysphagia, Frequent falls OMIM:159950
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal speech discrimination, EEG with generalized slow activity, High... ORPHA:397612
Refsum Disease, Classic
Somatic sensory dysfunction, Cardiomyopathy, Congestive heart failure, Sensorineural hearing impa... OMIM:266500
Neuroectodermal Melanolysosomal Disease
Spasticity, Hypotonia, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defec... ORPHA:40366
Congenital Myopathy 24
Facial palsy, First degree atrioventricular block, Cardiomyopathy OMIM:617336
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Vomiting, Hyperactivity, Sensorineural hearing impairment OMIM:609727
Foxg1 Syndrome Due To 14Q12 Microdeletion
Gastroesophageal reflux, Abnormal antihelix morphology, Protruding ear, Macroglossia, Motor stere... ORPHA:261144
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal,... ORPHA:207
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Large fleshy ears, Inability to walk, Tremor, Attention deficit hyperactivity disorder, Hypertoni... OMIM:619556
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Infantile muscular hypotonia ORPHA:369847
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Birk-Aharoni Syndrome
Chorea, Spastic tetraplegia, Axial hypotonia OMIM:620071
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Aggressive behavior, Hyperactivity, High palate, Restlessness, Agitation OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Spastic paraplegia, Choreoathetosis, Babinski sign OMIM:619735
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct, C... ORPHA:18
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Limb dysmetria, Positive Romberg sign, Dysmetria, Gait disturbance,... ORPHA:94125
D-Glyceric Aciduria
Myoclonus, Spasticity, Chorea, Infantile muscular hypotonia ORPHA:941
3P25.3 Microdeletion Syndrome
High, narrow palate, Abnormality of the outer ear, Sensorineural hearing impairment, Attention de... ORPHA:435638
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus OMIM:619685
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Truncal a... ORPHA:247815
Ck Syndrome
Aggressive behavior, High palate, Posteriorly rotated ears, Hyperactivity OMIM:300831
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Generalized hypotonia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Paresthesia, Tinnitus, Intracranial hemorrhage, Hyperte... ORPHA:231625
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea, Infantile muscular hypotonia ORPHA:369840
Congenital Fibrinogen Deficiency
Opisthotonus ORPHA:335
Intellectual Developmental Disorder, X-Linked 98
Gastroesophageal reflux, Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Re... OMIM:300912
Radio-Tartaglia Syndrome
Low-set ears, High, narrow palate, Precocious puberty, Gastroesophageal reflux, Conductive hearin... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Gastroesophageal reflux, Hyperactivity OMIM:300434
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Hyperactivity, Abnormal cardiac septum ... ORPHA:589821
Spinocerebellar Ataxia 6
Frequent falls, Vertigo, Incoordination, Dysmetria, Loss of ambulation, Dysphagia, Ataxia, Trunca... OMIM:183086
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Snijders Blok-Campeau Syndrome
Low-set ears, High palate, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618205
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Constipation, Hyperactivity, Compuls... OMIM:618430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Metachromatic Leukodystrophy
Addictive behavior, Hearing impairment, Abnormal stomach morphology, Decreased nerve conduction v... ORPHA:512
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Paresthesia, Laryngeal dystonia ORPHA:94089
Developmental And Epileptic Encephalopathy 1
Dystonia, Abnormal pyramidal sign, Dysphagia, Hypertonia, Spastic tetraparesis, Erratic myoclonus... OMIM:308350
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Motor stereotypy OMIM:619690
3-Methylglutaconic Aciduria, Type Ix
Spasticity, Generalized hypotonia, Hypotonia, Aggressive behavior, Clonus, Hypertonia, Choreoathe... OMIM:617698
Wolfram Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Polydipsia, Hypogonadism, Sensorin... ORPHA:3463
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dystonia OMIM:300894
Leukodystrophy, Hypomyelinating, 16
Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Abnormal pyramidal sign, Hypertonia, Dystoni... OMIM:617964
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Microtriplication 11Q24.1
Hearing impairment, Bruxism, Attached earlobe, Posteriorly rotated ears, Cleft palate ORPHA:289522
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Addictive alcohol use, Prolonged QT interval, Ataxi... ORPHA:31826
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Cerebral cortical atrophy, Continuous spike and waves during slow sleep, Attention deficit hypera... OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Chronic constipation, Aggressive behavior, Attention deficit hyperactivi... OMIM:617061
Clark-Baraitser Syndrome
Low-set ears, Large earlobe, Aggressive behavior, Hyperactivity, High palate OMIM:617752
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Tremor, Subarac... ORPHA:90068
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Rubinstein-Taybi Syndrome 2
Intestinal malrotation, Posterior helix pit, Hyperactivity, High palate, Narrow palate, Posterior... OMIM:613684
Developmental And Epileptic Encephalopathy 46
Axial hypotonia, Limb hypertonia, Dysphagia, Tremor OMIM:617162
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment ORPHA:238750
Fabry Disease
Hearing impairment, Mitral regurgitation, Sensorineural hearing impairment, Arrhythmia, Anorexia,... ORPHA:324
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Supernumerary nipple, Attention deficit hyperactivity disorder, Co... ORPHA:1001
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Crisponi/Cold-Induced Sweating Syndrome 1
Opisthotonus OMIM:272430
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Choreoacanthocytosis
Disinhibition, Aggressive behavior, Parkinsonism, Self-mutilation of tongue and lips due to invol... OMIM:200150
Coenzyme Q10 Deficiency, Primary, 4
Hypotonia, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Axial hypotonia OMIM:612016
Intellectual Developmental Disorder, Autosomal Recessive 61
Low-set ears, Aggressive behavior, Hypsarrhythmia, Hyperactivity, EEG abnormality, High palate, P... OMIM:617773
Kleefstra Syndrome 1
Gastroesophageal reflux, Hearing impairment, Protruding tongue, Cryptorchidism, Aggressive behavi... OMIM:610253
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Hypotonia, Cerebral palsy, Generalized hypotonia OMIM:210210
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Spasticity, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, Mot... OMIM:617807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Axi... ORPHA:70594
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... ORPHA:48818
Steinert Myotonic Dystrophy
Cerebral cortical atrophy, Dilated cardiomyopathy, Oral-pharyngeal dysphagia, Left ventricular sy... ORPHA:273
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Supernumerary nipple, Submucous cleft hard palate, Aggres... ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Aggressive behavior, Hyperactivity, Decreased response to growth hormone ... OMIM:615286
Spinocerebellar Ataxia 21
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:607454
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Head tremor, Postural tremor, Babinski sign, Abnormal pyramidal sign... ORPHA:64753
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Babinski sign, Vestib... ORPHA:504476
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Monoclonal light chain cardia... ORPHA:85443
Congenital Heart Defects, Multiple Types, 9
Low-set ears, Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, L... OMIM:620294
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Spasticity, Dysphagia, Motor stereotypy, Axial hypotonia ORPHA:572013
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Pyloric stenosis OMIM:133705
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, High palat... OMIM:613174
Metachromatic Leukodystrophy
Generalized hypotonia, Chorea, Hypotonia, Babinski sign, Tetraplegia, Ataxia, Dystonia, Spastic t... OMIM:250100
Peroxisome Biogenesis Disorder 5B
Dysmetria, Sensorineural hearing impairment, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Severe muscular hypotonia, Atax... ORPHA:25
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Bundle branch block, Atrioventric... ORPHA:500
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Gastroesophageal reflux, Conductive hearing impairme... ORPHA:819
Ritscher-Schinzel Syndrome 4
Chorea, Hypotonia, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Impulsivity OMIM:619435
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Generalized hypotonia, Hemiplegia, Axial hypotonia, Hypertonia, Ataxia, Inf... OMIM:272300
Hijazi-Reis Syndrome
Hypotonia, Lower limb spasticity, Motor stereotypy, Ankle clonus OMIM:301094
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:619473
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Congenital pyloric atresia, Cryptorchidism, EEG abnormality ORPHA:2617
Molybdenum Cofactor Deficiency, Type B
Hypotonia, Opisthotonus, Myoclonic spasms, Hypertonia, Spastic tetraplegia OMIM:252160
Brain Dopamine-Serotonin Vesicular Transport Disease
Oculogyric crisis, Generalized hypotonia, Abnormality of coordination, Limb dystonia, Tremor, Dys... ORPHA:352649
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Sensorineural hearing impairment, Arrhythmia... OMIM:530000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Bruxism, Cleft palate OMIM:615716
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Hearing impairment, Aggressive behavior, Hyperactivity, Cleft pa... OMIM:300958
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Hearing impairment, Generalized dystonia, Inability to walk... OMIM:312080
Neurooculocardiogenitourinary Syndrome
Low-set ears, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Sensorine... OMIM:618652
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Mucopolysaccharidosis Type 3
Hearing impairment, Abnormal mitral valve morphology, Sensorineural hearing impairment, Ataxia, H... ORPHA:581
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Paresthesia, Sensorineural hearing impairment, Polyphagia, Prolonged QT inter... ORPHA:79443
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Optic atrophy, Gastroesophageal reflux, Exaggerated median tongue furrow... ORPHA:313892
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Gastroesophageal reflux, Cryptorchidism, Overfriendliness, Posteriorly rotated ears... OMIM:619293
Spinocerebellar Ataxia Type 18
Hearing impairment, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation ORPHA:98771
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Neonatal hypotonia, Tetraparesis ORPHA:85277
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Abnormality of superior crus of antihelix, Attention deficit hyperactivi... OMIM:301013
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Salt And Pepper Developmental Regression Syndrome
Hypotonia, Myoclonus, Choreoathetosis OMIM:609056
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Macroorchidism, Hyperactivity, Uplifted earlobe OMIM:300143
Developmental And Epileptic Encephalopathy 42
Generalized hypotonia, Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Aggressive behavior, Hearing impairment, Hyperactivity ORPHA:457260
Nipah Virus Disease
Myoclonus, Tremor, Anorexia ORPHA:99825
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Ogden Syndrome
Low-set ears, Cardiogenic shock, Abnormal head movements, Cerebral atrophy, Ventricular septal de... ORPHA:276432
Molybdenum Cofactor Deficiency, Type A
Abnormal muscle tone, Opisthotonus, Myoclonic spasms, Spastic tetraparesis, Spastic tetraplegia OMIM:252150
Pitt-Hopkins-Like Syndrome 1
Spasticity, Generalized hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder,... OMIM:610042
Noonan Syndrome
Low-set, posteriorly rotated ears, Delayed menarche, Aplasia of the semicircular canal, Cryptorch... ORPHA:648
Kleefstra Syndrome
Self-injurious behavior, Gastroesophageal reflux, Hearing impairment, Supernumerary nipple, Crypt... ORPHA:261494
Myotonic Dystrophy 1
Atrial flutter, Cerebral atrophy, Facial diplegia, Obsessive-compulsive trait, First degree atrio... OMIM:160900
Phenylketonuria
Lower limb spasticity, Tremor, Ataxia ORPHA:716
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized hypotonia, Infantile axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Motor ster... ORPHA:508533
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Ethanolaminosis
Cardiomegaly OMIM:227150
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign, Ataxia, Dyston... OMIM:607694
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Low-set ears, Bilateral cryptorchidism, High palate, Macrotia, Pyloric stenosis ORPHA:314575
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Hearing impairment OMIM:616351
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Hypotonia, Impaired temperature sens... OMIM:619574
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, High palate, Abnormal auditory evoked potentials, Abnormality of visual evoked... OMIM:617523
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Dysphagia, Tremor OMIM:304700
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Bifid uvula, Gastroesophageal reflux, Self-injurious ... OMIM:616364
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Aggressive behavior, Ataxia, Dystonia, Spas... OMIM:618321
Brain-Lung-Thyroid Syndrome
Involuntary movements, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Intention tre... ORPHA:209905
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Oral-pharyngeal dysphagia, Anorexia, Chorea, Hypotonia, Tremor... ORPHA:2131
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Spasticity, Neonatal hypotonia, Chorea, Hypertonia, Exaggerated startle response, Spastic tetrapl... OMIM:617864
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Hypotonia, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine mo... ORPHA:36387
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Dysphagia, Right bundle branch block, Bilateral facial palsy ORPHA:254361
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Global brain atrophy, Cerebellar atrophy, Secundum atrial septal defect, Co... OMIM:620066
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Inte... OMIM:300048
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Hypotonia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxi... ORPHA:1170
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Hypotonia, Chorea OMIM:620535
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,... OMIM:620141
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial... ORPHA:990
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia ORPHA:330050
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia, Failure to thr... OMIM:616881
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Cryptorchidism, Submucous cleft hard palate... OMIM:619103
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Generalized hypotonia, Dystonia, Spastic tetraplegia, Choreoathetosis OMIM:618238
White-Sutton Syndrome
Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Gastroesophageal reflux, Ch... ORPHA:468678
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Akinesia, Postural tremor, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Spinocerebellar Ataxia With Epilepsy
Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Intellectual Disability, Birk-Barel Type
Protruding ear, Dysphagia, Hyperactivity, High, narrow palate ORPHA:166108
Spinocerebellar Ataxia Type 21
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... ORPHA:98773
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Charge Syndrome
Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Hypoparathyroidism, Anal atresia,... OMIM:214800
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... OMIM:616586
Crigler-Najjar Syndrome Type 1
Infantile muscular hypotonia, Tremor ORPHA:79234
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... ORPHA:247234
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Spasticity, Generalized hypotonia, Abnormality of coordination, Myoclonus,... ORPHA:442835
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Myoclonus, Gait ataxia, Tremor,... ORPHA:363400
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Tremor, Rigidity, Dystonia, ... OMIM:615530
Intellectual Developmental Disorder, Autosomal Dominant 22
Low-set ears, Gastroesophageal reflux, Bruxism, Stereotypical hand wringing, Abnormal pinna morph... OMIM:612337
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Head tremor, Hypotonia, Abnormality of extrapyramidal motor function, Dystonia, Abnor... ORPHA:280219
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia OMIM:300486
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, Hypothyroidism, EEG abnormality, High palate, M... ORPHA:2479
Shukla-Vernon Syndrome
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... OMIM:301029
4H Leukodystrophy
Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,... ORPHA:289494
Gaucher Disease, Perinatal Lethal
Opisthotonus, Dysphagia OMIM:608013
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Self-mutilation, Hyperkinetic movements, Motor stereotypy, Repetitive comp... ORPHA:522077
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Torticollis, Writer's cramp, Dystonia OMIM:619724
Distal Xq28 Microduplication Syndrome
Absent antihelix, Stereotypical body rocking, Aggressive behavior, Attention deficit hyperactivit... ORPHA:293939
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Babinski sign, Tongue thrusting, Limb... OMIM:608643
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Tricuspid regurgitation, Mitral reg... OMIM:619576
Cardiospondylocarpofacial Syndrome
Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Fusion of middle ear ossicl... OMIM:157800
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Vertigo, ST segment dep... ORPHA:466650
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Intellectual Developmental Disorder, Autosomal Dominant 43
Gastroesophageal reflux, Chronic constipation, Attached earlobe, Aggressive behavior, Hyperactivi... OMIM:616977
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Self-injurious behavior, Broad-based gait, Cupped ear, Limb ataxia, Recurrent hand ... OMIM:617101
Autosomal Dominant Dopa-Responsive Dystonia
Hearing impairment, Generalized dystonia, Impaired vibration sensation in the lower limbs, Postur... ORPHA:98808
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Hypotension, Tachycardia, Motor stereotypy ORPHA:79155
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Hearing impairment, Agitation, Overfriendliness, Cryptorchidism, Aggressive behavio... ORPHA:369891
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Rauch-Steindl Syndrome
Prominent crus of helix, Exocrine pancreatic insufficiency, Chronic constipation, Protruding ear,... OMIM:619695
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ata... ORPHA:227510
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Generalized hypotonia, Ataxia, Dystonia, Frequent falls, Choreoathetosis OMIM:618416
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Involuntary movements, Bruxism, Chorea, Hypotonia, Stereotypical hand wringing, Ataxia, Dystonia OMIM:617804
13Q12.3 Microdeletion Syndrome
Vomiting, Hearing impairment, Cryptorchidism, Self-mutilation, Constipation, Hyperactivity, Chron... ORPHA:412035
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Cerebellar atrophy, Aggressive behavior, Hyperactivity, EEG abnormality,... OMIM:271980
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Tremor, Shortened PR interval, Prolonged QT i... ORPHA:79102
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy, Paroxysmal dys... ORPHA:98784
Metachromatic Leukodystrophy, Adult Form
Spasticity, Decerebrate rigidity, Generalized hypotonia, Chorea, Progressive spastic quadriplegia... ORPHA:309271
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Vertigo, Syncope, Orthostatic hypotension ORPHA:230
19P13.3 Microduplication Syndrome
Low-set ears, Self-injurious behavior, Precocious puberty, Gastroesophageal reflux, Constipation,... ORPHA:447980
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea, Macrotia ORPHA:2575
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dysphagia, Dystonia, Limb hypertonia, Choreoathetosis OMIM:618247
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Cryptorchidism, Aggressive behavior, Delayed puberty, Hy... OMIM:300354
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Abnormal amplitude of flash visual evoke... ORPHA:168491
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hypogonadism, Cryptorchidism, Attention deficit hyperactivity disord... ORPHA:281090
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
16P12.1P12.3 Triplication Syndrome
Low-set ears, Large earlobe, Abnormal heart morphology, Abnormal tricuspid valve morphology, Skin... ORPHA:485405
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At... OMIM:612716
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Babinski sign, Scissor gait, Attention deficit hyperactivity disorder, Aggressive beha... OMIM:619121
Ataxia With Vitamin E Deficiency
Dysmetria, Hemiplegia/hemiparesis, Tremor, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... ORPHA:96
Riboflavin Transporter Deficiency
Progressive hearing impairment, Myoclonus, Tremor, Aggressive behavior, Ataxia, Dysphagia ORPHA:97229
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Restless legs, Rigidity, Bab... ORPHA:75567
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hypotonia, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ata... ORPHA:228402
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Hematochezia, High, narrow palate, Self-injurious behavior, Head-banging, Recurrent... OMIM:619575
Coffin-Siris Syndrome 2
Hearing impairment, Cryptorchidism, Hyperactivity, Macroglossia, High palate, Abnormal pinna morp... OMIM:614607
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Dysmetria, Tremor, Aggressive behavior, Limb hypertonia, Hypertonia, Ataxia, Severe temper tantru... OMIM:617710
Choreoacanthocytosis
Resting tremor, Limb dystonia, Hair-pulling, Parkinsonism, Lingual dystonia, Bradykinesia, Dyspha... ORPHA:2388
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Chorea, Ataxia OMIM:604168
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Adult-Onset Cervical Dystonia, Dyt23 Type
Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's... ORPHA:420492
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Prominent antihelix, Inappropriate laughter, Motor stereotypy, Macrotia OMIM:615802
Chromosome 15Q11.2 Deletion Syndrome
Macrotia, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy, Cleft... OMIM:615656
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Intellectual Developmental Disorder, Autosomal Dominant 38
Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, High palate, M... OMIM:616393
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cerebellar atrophy, Cardiomyopathy, Congestive heart failure, Vertigo, Limb ataxia... OMIM:619259
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Resting tremor, Vertigo, Head tremor, Gait ataxia, Babinski sign, Spa... ORPHA:458803
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy, Generalized hypotonia ORPHA:529965
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Hearing impairment, Bruxism, Protruding ear, Aggressive behavior, Tongue... OMIM:606232
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Gastroesophageal reflux, Hair-pulling, Protruding ear, Motor stereotypy, Hypsarrhyt... ORPHA:447997
Mcleod Syndrome
Dystonia, Chorea, Impaired vibration sensation at ankles, Compulsive behaviors OMIM:300842
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:542310
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis, Microtia OMIM:619817
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, EEG abnormality, At... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Chronic constipation, Aggressive behavior, Attention deficit hyperact... OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 67
Gastroesophageal reflux, Attention deficit hyperactivity disorder, Motor tics, Hypothyroidism, Hy... OMIM:619927
Classic Phenylketonuria
Self-injurious behavior, Hemiplegia, Paraplegia, Tremor, Attention deficit hyperactivity disorder... ORPHA:79254
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Bifid uvula, Hyperactivity, Posteriorly rotated ears, Cleft palate, Microtia OMIM:618089
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disin... OMIM:168605
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Jerky head movements ORPHA:64280
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... OMIM:212138
Amyloidosis, Hereditary Systemic 1
Hearing impairment, Cardiomyopathy, Limb ataxia, Positive Romberg sign, Tremor, Sensorineural hea... OMIM:105210
Rasmussen Subacute Encephalitis
Hemidystonia, Global brain atrophy, Continuous spike and waves during slow sleep, Inability to wa... ORPHA:1929
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Protruding tongue, Self-mutilation, Sensorineural hearing impairment, Stereotypical... OMIM:212066
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ve... OMIM:620609
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Dysmetria, Sensorineural hearing impairment, Cardiomegaly, Hepatome... OMIM:256550
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Recurrent otitis media, Low-set, posteriorly rotated ears, Bicuspid aortic va... ORPHA:1772
Pontocerebellar Hypoplasia Type 2
Spasticity, Upper limb hypertonia, Oral-pharyngeal dysphagia, Infantile axial hypotonia, Paroxysm... ORPHA:2524
Rheumatic Fever
Anorexia, Chorea, Hemiballismus, Fasciculations ORPHA:3099
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, High palate, Motor stereotypy OMIM:615637
Oculopharyngodistal Myopathy 4
Postural tremor, Dysphagia, Tremor OMIM:619790
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor... OMIM:620494
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Generalized hypotonia, Hypotonia, Myoclonus, Gait ataxia, Dysmetria, Tremor, Distal sensory impai... OMIM:616505
Developmental And Epileptic Encephalopathy 74
Hypotonia, Choreoathetosis OMIM:618396
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Cardiomyopathy, Low-set, posteriorly rotated ears, Bundle branch block... ORPHA:373
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurg... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 13
Severe muscular hypotonia, Dystonia, Choreoathetosis, Axial hypotonia OMIM:614932
Cystathioninuria
Tremor ORPHA:212
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Bainbridge-Ropers Syndrome
Low-set ears, Self-injurious behavior, Precocious puberty, Gastroesophageal reflux, Vomiting, Sup... OMIM:615485
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hypotonia, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Motor... ORPHA:530983
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Parkinson Disease, Late-Onset
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Dysphagia OMIM:168600
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy OMIM:252900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, EEG with generalized epileptiform discharges, Cerebellar vermis atrophy... ORPHA:163681
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Dysphagia, Motor stereotypy ORPHA:79264
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... ORPHA:199351
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Hearing impairment, Impaired pain sensation, Tricuspid regurgitation, Arrhythmia, H... ORPHA:261211
Pitt-Hopkins Syndrome
Self-injurious behavior, Gastroesophageal reflux, Cupped ear, Supernumerary nipple, Cryptorchidis... OMIM:610954
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Paresthesia, ... ORPHA:466677
Leopard Syndrome 1
Low-set ears, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch blo... OMIM:151100
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Rigidity OMIM:615010
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Obesity, Paresthesia, Polyphagia, Prolonged QT interval ORPHA:79444
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy... OMIM:614381
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Gastroesophageal reflux, EEG with burst suppre... ORPHA:171929
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment... ORPHA:206594
Intellectual Disability-Strabismus Syndrome
Low-set ears, Gastroesophageal reflux, Hearing impairment, Recurrent otitis media, Decreased resp... ORPHA:363528
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Hearing impairment, Attention deficit hyperact... ORPHA:488618
Rett Syndrome
Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Dystonia, Gait distu... ORPHA:778
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a... OMIM:614298
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Paresthesia, Cogwheel rigidity, Rigidit... ORPHA:97349
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Hy... OMIM:617516
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, Dyst... OMIM:614702
Combined Oxidative Phosphorylation Deficiency 32
Spasticity, Hypotonia, Tremor, Dystonia, Dysphagia, Choreoathetosis OMIM:617664
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Generalized hypotonia, Speech apraxia, Chorea, Hypotonia, Tremor, Hyperkinetic movements, Ataxia,... OMIM:615356
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Optic atrophy, Tremor, Shortened PR interval, Ventricular septal defect, Ventricular sept... OMIM:614947
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Stereotypical hand wringing, Posteriorly rotated ears, Constipation, Hyp... OMIM:619229
Progressive Supranuclear Palsy
Blepharospasm, Falls, Bradykinesia, Vertigo, Tremor, Rigidity, Dystonia, Unsteady gait, Dysphagia... ORPHA:683
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Axial hypotonia, Limb hypertonia, Hypertonia,... OMIM:618056
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Chronic constipation, Dysphagia, Motor stereotypy, Bowel incontinence, Macrotia ORPHA:496641
Tick-Borne Encephalitis
Vomiting, Hearing impairment, Vertigo, Anorexia, Abnormal cranial nerve morphology, Abnormal glos... ORPHA:297
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Generalized hypotonia, Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxi... OMIM:618060
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Atresia of the external auditory ca... ORPHA:2306
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Allan-Herndon-Dudley Syndrome
Spasticity, Neonatal hypotonia, Axial hypotonia, Abnormality of extrapyramidal motor function, An... ORPHA:59
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:858
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Low-set ears, Aortic regurgitation, Conductive hearing impairment, Mitra... ORPHA:254346
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Self-injurious behavior, Decreased response to growth hormone stimulation test, Hyp... OMIM:601853
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Generalized hypotonia, Hypotonia, Myoclonus, Tremor, Dystonia, Choreoathetosis OMIM:312170
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Vomiting, Breast hypoplasia, Cryptorchidism, Protruding ear, Hyperactivi... ORPHA:464306
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Vomiting, Cryptorchidism, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:615824
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Prominent crus of... ORPHA:794
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Motor stereotypy, Hypothyroidism, High pal... OMIM:618347
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Low-set ears, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Right bundle branch block, Pos... OMIM:618590
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Nabais Sa-De Vries Syndrome, Type 2
Dystonia, Chorea, Neonatal hypotonia, Hemiparesis OMIM:618829
Van Esch-O'Driscoll Syndrome
Bifid uvula, Protruding ear, Hypogonadotropic hypogonadism, Attention deficit hyperactivity disor... OMIM:301030
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Recurrent hand flapping, Submucous cleft hard palate, Aggressive behavior... OMIM:619680
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia, Hearing impairment, Hyperactivity OMIM:252930
Woodhouse-Sakati Syndrome
Hearing impairment, Abnormal T-wave, Sensorineural hearing impairment, Protruding ear, Dystonia, ... OMIM:241080
9P13 Microdeletion Syndrome
Low-set ears, Precocious puberty, Recurrent otitis media, Bruxism, Abnormality of cartilage of ex... ORPHA:324313
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Hep... OMIM:617713
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened... ORPHA:365
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Hypotonia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So... ORPHA:206448
Chromosome Xq13 Duplication Syndrome
Recurrent otitis media, Chronic constipation, Aggressive behavior, Attention deficit hyperactivit... OMIM:301069
Pilarowski-Bjornsson Syndrome
Speech apraxia, Hypotonia, Motor stereotypy OMIM:617682
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Cerebral cortical atrophy, Cardiomegaly, Hearing impairment ORPHA:3137
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Myoclonus, Abnormal eating behavior, Tr... ORPHA:98794
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, EEG with frontal sharp slow waves, Sensorineural hearing impairment, Con... ORPHA:457351
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Niemann-Pick Disease Type C
Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxia, Dysphagia, Chorea... ORPHA:646
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Encopresis, Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve hypoplasia OMIM:620502
Neu-Laxova Syndrome
Opisthotonus ORPHA:2671
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Hypertonia, Sensorineural hearing impairment ORPHA:1192
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Male hypogonadism, Type I diabetes mellitus, Adrena... OMIM:240300
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Vertigo, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Hypoplastic left heart, Hearing impairment, Recurrent otitis media, Myocardial infa... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Hypoplastic left heart, Hearing impairment, Recurrent otitis media, Myocardial infa... ORPHA:99228
Monosomy X
Low-set ears, Hypoplastic left heart, Hearing impairment, Recurrent otitis media, Myocardial infa... ORPHA:99226
Turner Syndrome
Low-set ears, Hypoplastic left heart, Hearing impairment, Recurrent otitis media, Myocardial infa... ORPHA:881
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Abnormality of adrenal physiology, Adrenal insufficiency, Increas... ORPHA:43
Refsum Disease
Cardiomyopathy, Splenomegaly, Sensorineural hearing impairment, Ataxia, Heart block ORPHA:773
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dystonia, Parkinsonism, ... OMIM:168601
Legius Syndrome
Hearing impairment, Vestibular schwannoma, Mitral valve prolapse, Paroxysmal atrial tachycardia, ... ORPHA:137605
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... OMIM:620242
Keppen-Lubinsky Syndrome
Opisthotonus, Spastic tetraparesis, Hypertonia OMIM:614098
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing ... ORPHA:73272
Cimdag Syndrome
Spasticity, Hypotonia, Chorea, Ataxia, Dystonia OMIM:619273
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Gastroesophageal reflux, Protruding tongue, Cryptorchidism, Sensorineural hearing i... OMIM:301040
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Bil... ORPHA:300570
47,Xyy Syndrome
Low-set ears, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity, Increased ... ORPHA:8
Otofaciocervical Syndrome 1
Cupped ear, Conductive hearing impairment, Mixed hearing impairment, High palate, Hypoplasia of t... OMIM:166780
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Generalized hypotonia, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia ORPHA:529665
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Hypotonia, Tremor, Babinski sign, Limb hypertonia, Dystonia, Dysphagia ORPHA:35708
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Hearing impairment, Difficulty walking, Abnormality of peripher... ORPHA:90321
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han... ORPHA:411511
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Cerebral cortical atrophy, Broad-based gait, Failure to thrive, Stereotypical body rocking, Unste... OMIM:617865
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Wiedemann-Steiner Syndrome
Low-set ears, Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Agg... ORPHA:319182
Hydranencephaly
Opisthotonus, Spastic diplegia ORPHA:2177
Pyruvate Dehydrogenase Deficiency
Spasticity, Cerebral palsy, Hypotonia, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, Choreoa... ORPHA:765
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, EEG with parietal epileptiform discharges, Continuous spike and waves ... OMIM:619428
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Recurrent otitis media, Decreased response to growth hormon... OMIM:615577
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Cryptorchidism, Aggressive behavior, Hyperacti... ORPHA:401973
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Amish Nemaline Myopathy
Neonatal hypotonia, Tremor ORPHA:98902
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Decreased n... ORPHA:580
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Vomiting, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Restlessness, Oral-pharyngeal dysphagia, Chorea, Hypot... OMIM:615273
Norrie Disease
Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Cryptorchidism, Sensorineural ... ORPHA:649
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Tremor ORPHA:276608
Alexander Disease
Self-injurious behavior, Spasticity, Chorea, Hypotonia, Tremor, Abnormal pyramidal sign, Clonus, ... ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Self-injurious behavior, Gastroesophageal reflux, Cupped ear, Bruxism, Inappropriat... OMIM:156200
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:269920
Keppen-Lubinsky Syndrome
Opisthotonus, Spastic tetraparesis, Hypertonia ORPHA:435628
X-Linked Intellectual Disability, Schimke Type
Spasticity, Choreoathetosis, Infantile muscular hypotonia ORPHA:85285
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gastroesophageal reflux, Vomiting, Cryptorchidism, Posterior pituitary hypoplasia, Protruding ear... ORPHA:464311
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Leigh Syndrome
Spasticity, Involuntary movements, Chorea, Abnormality of extrapyramidal motor function, Hyperkin... ORPHA:506
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Narrow palate OMIM:615516
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Arthrogryposis, Distal, Type 2A
High palate, Abnormal auditory evoked potentials, Hearing impairment, Cryptorchidism OMIM:193700
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Tremor, Sensorineural hearing impairment,... ORPHA:447753
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, EEG with parietal focal spikes, Recurrent otitis media, Chron... OMIM:301066
Lyme Disease
Arrhythmia, Paresthesia, Atrioventricular block ORPHA:91546
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Spasticity, Obsessive-compulsive trait, Tremor, Rigidity, Dystonia, B... OMIM:234200
Developmental And Epileptic Encephalopathy 87
Hypsarrhythmia, High palate, Recurrent hand flapping OMIM:618916
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy... ORPHA:98855
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Low-set ears, Parietal cortical atrophy, Patent foramen ovale, Sensorine... OMIM:620075
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Abnormality of peripheral nerve conduction, Dystonia, Unsteady... ORPHA:35069
Myopathy, Mitochondrial, And Ataxia
Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory... OMIM:617675
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Developmental And Epileptic Encephalopathy 100
Chorea, Hypotonia, Gait ataxia, Myoclonus, Appendicular hypotonia, Dysphagia, Motor stereotypy, C... OMIM:619777
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Cryptorchidism, Hypoplastic nipples, Hyperactivity, Macrotia OMIM:618505
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Optic atrophy, Self-injurious behavior, Frequent temper tantrums, Cryptorchidism, S... OMIM:619512
Myoclonic-Astatic Epilepsy
EEG with irregular generalized spike and wave complexes, EEG with generalized slow activity, EEG ... ORPHA:1942
Marbach-Rustad Progeroid Syndrome
Ventricular septal hypertrophy, Pulmonary insufficiency, Right bundle branch block, Intention tremor OMIM:619322
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Cerebellar atrophy, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Mogs-Cdg
Optic atrophy, Chronic constipation, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:79330
Crimean-Congo Hemorrhagic Fever
Anorexia, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax... ORPHA:99827
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Anteriorly placed anus, Supernumerary nipple, Cryptorchidism, Overfolded helix, Hig... OMIM:618653
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Mitral stenosis, Sensorineural hearing impairment,... OMIM:617660
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Microtia OMIM:613320
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Recurrent otitis media, Bruxism, Stereotypical body rockin... ORPHA:261323
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Somatic sensory dysfuncti... ORPHA:909
Familial Atrial Fibrillation
Vertigo, Palpitations, Syncope, Atrial fibrillation, Myocardial infarction ORPHA:334
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Gastroesophageal reflux, Short ear, Chronic constipation, Protruding ear, Hiatus he... OMIM:614756
Beck-Fahrner Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Cardiomegaly, Ventricular septal defect OMIM:618798
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Action tremor, Sensorineural hearing impairmen... ORPHA:199343
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Supraventricular ... ORPHA:98863
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Infantile muscular hypotonia, Ataxia, Motor stereotypy, Agitation ORPHA:927
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Anteriorly placed anus, Cryptorchidism, Aggressive behavior, Anal atresia, Hy... OMIM:619148
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Restless legs, Tremor, Rigidity, Impulsivity, Dystonia, Agitation ORPHA:2828
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hypotonia, Dystonia, Choreoathetosis, Anorexia ORPHA:79312
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Tay-Sachs Disease
Hearing impairment, Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, ... ORPHA:845
Jaberi-Elahi Syndrome
Low-set ears, Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spasticit... OMIM:617988
Cerebellar-Facial-Dental Syndrome
Low-set ears, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave ORPHA:444072
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... ORPHA:157798
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right b... OMIM:617506
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Cryptorchidism, Bilat... ORPHA:468631
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance OMIM:300957
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Abnormal helix morphology, Cardiomyopathy, Cardiomegaly, Impaired myocardial c... ORPHA:158687
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Hearing impairm... ORPHA:1199
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Pulmonic stenosis OMIM:619239
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Unusual gastrointestinal infection, Sensorineural hearing impairment ORPHA:760
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Furrowed tongue, Decreased testicular size, Cryptorchidism, Protruding ear, Aggre... OMIM:300534
Meier-Gorlin Syndrome 7
Low-set ears, Second degree atrioventricular block, Hearing impairment, Heart block, Complete atr... OMIM:617063
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Gastroesophageal reflux, Vomiting, Precocious puberty in ... ORPHA:72
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Abnormal helix morphology, Gastroesophageal reflux, Hearing impairment, Furrowed ton... ORPHA:453499
New-Onset Refractory Status Epilepticus
EEG with frontal epileptiform discharges, Global brain atrophy, Abnormal head movements, EEG with... ORPHA:363558
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Recurrent otitis media, Stereotypical body rocking, Abnormal Eustachian ... ORPHA:513456
Kinsship Syndrome
Low-set ears, Gastroesophageal reflux, Ankyloglossia, Bruxism, Chronic constipation, Motor stereo... OMIM:619297
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Hamamy Syndrome
Low-set ears, Prolonged QRS complex, Mitral regurgitation, Complete atrioventricular canal defect... OMIM:611174
Joubert Syndrome 6
Hypotonia, Oculomotor apraxia, Motor stereotypy, Ataxia OMIM:610688
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Limb ataxia, Cardi... OMIM:619051
1P36 Deletion Syndrome
Self-injurious behavior, Optic atrophy, Pyloric stenosis, Gastroesophageal reflux, Conductive hea... ORPHA:1606
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Hypogonadism, Decreased testicular size, Aggressive behavior, Hypera... ORPHA:85293
Woodhouse-Sakati Syndrome
Abnormal T-wave, Protruding ear, Bilateral sensorineural hearing impairment, Dystonia, Choreoathe... ORPHA:3464
Cutis Laxa, Autosomal Recessive, Type Iid
Low-set ears, Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Pro... OMIM:617403
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Sensorineural hearing impairment, Po... ORPHA:904
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Conductive hearing impairment, Abnormal fear-in... ORPHA:353281
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Houge-Janssens Syndrome 3
Self-injurious behavior, High palate, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618354
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Aggressive behavior, Abnormally folded helix, Hyperactivity, Macroorchidism, Compul... OMIM:309520
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Hypertonia, Ataxia, Infantile muscular hypotonia, Dystonia, Dysp... ORPHA:255210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Cerebral atrophy, Decrease... OMIM:133540
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance ORPHA:83629
Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Leg dystonia, Limb dystonia, Intention tremor, Rigidity, Abnormality of extrapyramida... ORPHA:157850
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Cryptorchidism OMIM:618067
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Hearing impairment, Primary adrenal insufficiency, Decreased circulating corti... ORPHA:139396
Pettigrew Syndrome
Self-injurious behavior, Spasticity, Hypotonia, Gait ataxia, Stereotypical hand wringing, Aggress... OMIM:304340
Mucopolysaccharidosis, Type Iiid
Low-set ears, Diarrhea, Hearing impairment, Recurrent otitis media, Oppositional defiant disorder... OMIM:252940
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Underdeveloped superior crus of antihelix, Hearing impairment, Aggressive be... ORPHA:369950
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Sensorineural hearing impairment, Tremor, Babinski sig... OMIM:618527
Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Frequent temper tantrums, Recurrent hand flapping, Protruding tongue, A... OMIM:617062
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment OMIM:618838
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Cryptorchidism, Protruding ear, Hyperactivity, Episodic vomiti... ORPHA:3379
Episodic Ataxia Type 1
Clumsiness, Poor coordination, Choreoathetosis, Hypertonia ORPHA:37612
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Failure to thrive, Cerebr... OMIM:216400
Helsmoortel-Van Der Aa Syndrome
Low-set ears, High, narrow palate, Gastroesophageal reflux, Cupped ear, Decreased response to gro... OMIM:615873
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... OMIM:616897
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Somatic sensory dysfun... ORPHA:3385
Combined Oxidative Phosphorylation Deficiency 18
Hypotonia, Tremor, Dysmetria OMIM:615578
Congenital Disorder Of Glycosylation, Type Ij
Generalized hypotonia, Hypotonia, Tremor, Aggressive behavior, Hypertonia OMIM:608093
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Gastroesophageal reflux, Cryptorchidism, Motor stereotypy, Posteriorly rotated ears... OMIM:617330
Seckel Syndrome 1
Low-set ears, Cryptorchidism, Hyperactivity, High palate, Abnormal pinna morphology, Cleft palate OMIM:210600
Koolen-De Vries Syndrome
Narrow palate, Macrotia, Cryptorchidism, Impulsivity, Hyperactivity, High palate, Overfolded heli... OMIM:610443
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus OMIM:269150
Angelman Syndrome
Cerebral cortical atrophy, Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Lim... OMIM:105830
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Abnormal stomach morphology,... ORPHA:141127
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Cerebellar v... OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 29
Low-set ears, Narrow palate, Self-injurious behavior, Hearing impairment, Ankyloglossia, Frequent... OMIM:616078
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Congestive heart failure OMIM:275000
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Hypotonia, Motor stereotypy, Ataxia, Dystonia, Dysphagia OMIM:607625
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Tremor, Poly... ORPHA:525731
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly, Ataxia ORPHA:42
Proximal 16P11.2 Microduplication Syndrome
Compulsive behaviors, Hypotonia, Attention deficit hyperactivity disorder, Tremor ORPHA:370079
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Ventricular septal ... OMIM:614921
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Tremor, Sensorineural hearing impairment, Loss of ambulation, Right hemiplegia, Ataxia... OMIM:607426
Serotonin Syndrome
Myoclonus, Tremor, Rigidity, Clonus, Hypertonia, Restlessness, Agitation ORPHA:43116
Coffin-Siris Syndrome 12
Low-set ears, Gastroesophageal reflux, Prominent antihelix, Velopharyngeal insufficiency, Large e... OMIM:619325
Glass Syndrome
Low-set ears, Frequent temper tantrums, Aggressive behavior, Hyperactivity, High palate, Restless... OMIM:612313
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomegaly, Arrhythmia,... OMIM:235200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Impaired oral bolus formation, Myoclonus, Action tremor, Hyperkinetic movements, Oculomot... ORPHA:404454
Postaxial Acrofacial Dysostosis
Low-set ears, Cupped ear, Conductive hearing impairment, Supernumerary nipple, Cryptorchidism, Mi... OMIM:263750
Wolfram Syndrome 1
Hearing impairment, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:222300
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Distal sensory impairment, Sens... ORPHA:99956
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Protein-losing enteropathy, Conductive hearing impairment, Intestinal lymphangiecta... OMIM:235510
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Wars2-Related Combined Oxidative Phosphorylation Defect
Low-set ears, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Aggressive behavior, Limb hyp... ORPHA:572798
Friedreich Ataxia 2
Impaired vibratory sensation, Muscular subvalvular aortic stenosis, Congestive heart failure, Abn... OMIM:601992
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Hypotonia, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Recurrent otit... OMIM:614700
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Annular pancreas, Central ... ORPHA:798
Maternal Phenylketonuria
Hypoplastic helices, High palate, Esophageal atresia, Hyperactivity ORPHA:2209
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Resting tremor, Akinesia, Rigidity, Dystonia, Impulsivity, Parkinsonism, Parkinso... ORPHA:411602
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Ankyloglossia, Hypsarrhythmia, Bilateral sensorineural hearing impairment, Ti... OMIM:619475
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Distal Deletion 12Q
Low-set ears, High, narrow palate, Pyloric stenosis, Microglossia, Bilateral conductive hearing i... ORPHA:96149
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia, Axial hypotonia ORPHA:1578
Cardiofaciocutaneous Syndrome 1
Low-set ears, Gastroesophageal reflux, Vomiting, Hearing impairment, Large earlobe, Anterior crea... OMIM:115150
Chromosome 18Q Deletion Syndrome
Generalized hypotonia, Hypotonia, Chorea, Tremor, Poor coordination OMIM:601808
Chronic Granulomatous Disease
Tracheoesophageal fistula, Otitis media, Pyloric stenosis ORPHA:379
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Vertigo, Tinnitus, Cardiomegaly, Telangiectasia of the skin, Telangiectasia o... ORPHA:79280
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Optic atrophy, Cupped ear, Hearing impairment, Cryptorchidism, Protruding ear, Moto... OMIM:309590
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Bifid uvula, Fixated interests, Hair-pulling, Protruding ear, Polyphagia... OMIM:620330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Cholelithiasis, Sensorineural hearing impairment, Papilledema, Delayed ... ORPHA:2072
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Hearing impairment, Abnormality of endocrine pancreas physiology, Abnormality of exoc... ORPHA:93111
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Constipation, Hypsarrhythmia, EEG with generalized slow activity, Motor ... OMIM:300672
Floating-Harbor Syndrome
Low-set ears, Abnormal temper tantrums, Precocious puberty, Gastroesophageal reflux, Conductive h... ORPHA:2044
Treacher-Collins Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Cryptorchidism, Glossoptosis, Hypo... ORPHA:861
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Optic atrophy, Hyperactivity, Macrotia OMIM:617281
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tetraparesis, Hypotonia, Tremor, Rigidity, Torticollis, Ataxia, Restlessness OMIM:617186
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, High, narrow palate, Precocious puberty, Gastroesophageal reflux, Hearing impairmen... ORPHA:369837
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Hypothyroidism, Delayed puberty, Nephrogenic diab... ORPHA:213
Neuroleptic Malignant Syndrome
Oculogyric crisis, Extrapyramidal muscular rigidity, Chorea, Tremor, Dysphagia, Agitation ORPHA:94093
Arboleda-Tham Syndrome
Low-set ears, Optic atrophy, Small earlobe, Gastroesophageal reflux, Prominent antihelix, Bilater... OMIM:616268
Joubert Syndrome 1
Low-set ears, Macroglossia, Optic disc coloboma, Protruding tongue, Self-mutilation, Aggressive b... OMIM:213300
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Acromesomelic Dysplasia 4
Low-set ears, Third degree atrioventricular block OMIM:619636
Duane Retraction Syndrome
Hearing impairment, Narrow internal auditory canal, Stenosis of the external auditory canal, Sens... ORPHA:233
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Attention deficit hyperactivity disorder, Motor stereotypy, Cryptorchidism OMIM:620073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disord... ORPHA:476126
Sandifer Syndrome
Gastroesophageal reflux, Abnormal head movements, Esophagitis, Hiatus hernia, Hematemesis, Episod... ORPHA:71272
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Overfolded helix, A... OMIM:608836
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Gastroesophageal reflux, Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded he... OMIM:301044
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Microtia ORPHA:158684
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm... OMIM:614008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Conductive hearing impairment, Exaggerated median tongue furrow... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Conductive hearing impairment, Exaggerated median tongue furrow... ORPHA:352665
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Diarrhea, Gastric ulcer, Esophageal furrows, Odynop... OMIM:147060
Pelizaeus-Merzbacher Disease
Spasticity, Hypotonia, Ataxia, Dystonia, Choreoathetosis ORPHA:702
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Gait ataxia, Action tremor, Unsteady gait, Dysphagia, Intention tremor OMIM:254900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, EEG with focal epileptiform discharges, Tongue thrusting, EEG abnormality, Dys... ORPHA:98795
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity, Posteriorl... OMIM:614294
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Neonatal hypotonia, Progressive spastic quadriplegia, Dystonia, Choreoathetosis, Nonprogressive c... ORPHA:431361
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Aortic regurgitation, Tricuspid regurgitation, Biventricular hypertrophy, Mitral va... OMIM:617402
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Macrotia, Recurrent otitis media, Recurrent infection of the gastrointes... OMIM:251260
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Premature adrenarche, Conductive hearing impairment, Recurrent otitis media, Ankylo... OMIM:620450
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Impaired temperature sensation, Cardiomegaly, Orthostatic hypotension... OMIM:268800
Monosomy 22Q13.3
Gastroesophageal reflux, Hearing impairment, Bruxism, Hair-pulling, Hyperactivity, Macrotia ORPHA:48652
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Abnormal pyramidal sign, Truncal ataxia, Choreoathetosis, Axial hypotonia OMIM:618249
Immunodeficiency 82 With Systemic Inflammation
Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Recurrent otitis media, Villous at... OMIM:619381
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Spasticity, Hearing impairment, Oral-pharyngeal dysphagia, Gait imbalance, Tremor, ... OMIM:300966
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Conductive hearing impai... OMIM:194190
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Gastroesophageal reflux, Abnormal circulating calci... ORPHA:534
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia, Shortened QT interval ORPHA:99880
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Narrow palate, Self-injurious behavior, Gastroesophageal reflux, Conductive hearing... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Narrow palate, Self-injurious behavior, Gastroesophageal reflux, Conductive hearing... ORPHA:353277
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response, Axial hypotonia OMIM:620327
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Tongue tremor, Tip-toe gait, Hearing impairment, Somatic sensory dy... ORPHA:466768
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Self-mutilation, Chronic constipation, Attention deficit hyperactivity disorder, ... OMIM:619005
Dubowitz Syndrome
Low-set ears, Gastroesophageal reflux, Velopharyngeal insufficiency, Otitis media, Submucous clef... OMIM:223370
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Parathyroid Carcinoma
Polydipsia, Dysphagia, Shortened QT interval ORPHA:143
Fucosidosis
Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:349
Birk-Landau-Perez Syndrome
Limb ataxia, Appendicular hypotonia, Oculomotor apraxia, Limb hypertonia, Facial hypotonia, Dysto... OMIM:617595
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia ORPHA:220497
Spondyloenchondrodysplasia
Spasticity, Chorea ORPHA:1855
Joubert Syndrome
Low-set ears, Tremor, Oculomotor apraxia, Gait disturbance, Ataxia ORPHA:475
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Pa... OMIM:601104
Coffin-Siris Syndrome 1
Low-set ears, Hearing impairment, Intestinal malrotation, Gastric ulcer, Cryptorchidism, Aggressi... OMIM:135900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Mercury Poisoning
Dystonia, Tremor, Anorexia ORPHA:330021
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Crypto... OMIM:616682
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Diarrhea, Gastritis OMIM:618108
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolaps... OMIM:602782
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, High, narrow palate, Precocious puberty, Gastroesophageal reflux, Hearing impairmen... OMIM:619950
Lethal Congenital Contracture Syndrome 10
Low-set ears, Ventricular septal defect, Cardiomegaly, Overriding aorta, Torticollis OMIM:617022
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Subcortical cerebral atrophy, Macrotia, Mucosal telangiectasiae ORPHA:2463
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Exocrine pancreatic insufficiency, Abnormal optic disc morphology, Facial pal... ORPHA:508498
Hardikar Syndrome
Vomiting, Mild hearing impairment, Vertigo, Intestinal malrotation, Cleft soft palate, Bilateral ... OMIM:301068
Hyperoxaluria, Primary, Type I
Optic atrophy, Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phe... OMIM:259900
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Gabriele-De Vries Syndrome
Low-set ears, Tip-toe gait, Tremor, Simple ear, Attention deficit hyperactivity disorder, Dystoni... OMIM:617557
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Ogden Syndrome
Low-set ears, Recurrent otitis media, Torsade de pointes, Ventricular septal defect, Premature ve... OMIM:300855
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Cerebellar atrophy, Failure to thrive, Episodic ataxia, EEG with burst s... ORPHA:1934
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, He... OMIM:306955
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Primrose Syndrome
Self-injurious behavior, Hearing impairment, Bilateral cryptorchidism, Cryptorchidism, Aggressive... OMIM:259050
Fucosidosis
Low-set ears, Hearing impairment, Cerebral atrophy, Splenomegaly, Cardiomegaly, Hepatomegaly, Dys... OMIM:230000
Severe Oculo-Renal-Cerebellar Syndrome
Hypotonia, Spasticity, Choreoathetosis, Spastic diplegia ORPHA:2715
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Postural hypotension with compensatory tachycardia, Self-mutilation, Hyperact... OMIM:256800
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimula... ORPHA:177907
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma ORPHA:64743
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Mend Syndrome
Low-set ears, Cryptorchidism, Hyperactivity, Overfolded helix, High palate, Posteriorly rotated ears OMIM:300960
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Cryptorchidism, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphag... OMIM:619522
Scimitar Syndrome
Hypoplastic left heart, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot,... ORPHA:185
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Cranial nerve compression, Anorexia, Hematemesis, Melena, Hypertension ORPHA:652
Menkes Disease
Hypotonia, Spasticity, Chorea, Hypertonia ORPHA:565
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Leptospirosis
Hypotension, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Papilledema, First degree atrioventr... ORPHA:509
Xeroderma Pigmentosum, Complementation Group A
Spasticity, Choreoathetosis, Distal sensory impairment, Ataxia OMIM:278700
Holoprosencephaly
Dystonia, Hypotonia, Spasticity, Chorea ORPHA:2162
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Bifid uvula, Self-injurious behavior, Sensorineural hearing impairment, Protruding ... OMIM:612474
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Low-set ears, Optic atrophy, Gastroesophageal reflux, Vomiting, Hypogonadism, Decreased testicula... OMIM:309580
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Arteriosclerosis, Severe Juvenile
Delayed puberty, Gastric ulcer OMIM:208060
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age, Hyperactivity OMIM:609152
Aicardi-Goutières Syndrome
Low-set ears, Degeneration of the striatum, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Trem... ORPHA:51
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cerebral cortical atrophy, Congestive heart failure, Recurrent otitis media... OMIM:252500
Ataxia-Telangiectasia
Dysdiadochokinesis, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slurred speech, Choreo... OMIM:208900
Bohring-Opitz Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Cardiomegaly, Abnormal cardiac septum morpholog... ORPHA:97297
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, L... OMIM:245600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation ORPHA:424
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Dystonia, Cardiomegaly, Vitreous hemorrhage, Corpu... OMIM:620371
Mowat-Wilson Syndrome
Recurrent otitis media, Cryptorchidism, Sensorineural hearing impairment, Uplifted earlobe, EEG w... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,... ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Tremor, Ventricula... OMIM:300967
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Cerebellar atrophy, Cerebral atrophy OMIM:620306
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Bruxism, Cryptorchi... ORPHA:261537
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Viss Syndrome
Low-set ears, Exostosis of the external auditory canal, Cleft soft palate, Chronic constipation, ... OMIM:619472
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal crania... ORPHA:73263
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Oculopharyngodistal Myopathy 1
Difficulty walking, Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:164310
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
De Sanctis-Cacchione Syndrome
Spasticity, Babinski sign, Scissor gait, Hypertonia, Ataxia, Choreoathetosis OMIM:278800
Systemic Lupus Erythematosus
Chorea, Anorexia ORPHA:536
Xeroderma Pigmentosum, Complementation Group D
Spasticity, Choreoathetosis, Ataxia OMIM:278730
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Posterior helix pit, Enlarged... OMIM:130650
Abetalipoproteinemia
Impaired vibratory sensation, Congestive heart failure, Positive Romberg sign, Gait ataxia, Dysme... ORPHA:14
3-Methylglutaconic Aciduria, Type Viii
Generalized hypotonia, Hypotonia, Tremor, Clonus, Hypertonia, Dystonia, Dysphagia OMIM:617248
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Microphthalmia, Syndromic 1
Low-set ears, High, narrow palate, Hearing impairment, Optic disc coloboma, Recurrent otitis medi... OMIM:309800
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor, Hyperactivity, Agitation ORPHA:99819
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Bifid uvula, Submucous cleft of soft and hard palate, Recurrent otitis media, Brux... ORPHA:261552
Primary Hyperoxaluria
Optic atrophy, Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon,... ORPHA:416
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Lef... ORPHA:51608
Brucellosis
Chorea, Anorexia ORPHA:1304
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Small pituitary gland, Recurrent otitis media, Bruxism, Stereotypical body rocking,... OMIM:619503
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo... ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Recurrent otitis media, Splenomegaly, Cardiomegaly, Arrhythmia, Hepatom... OMIM:256040
Beckwith-Wiedemann Syndrome
Otosclerosis, Visceromegaly, Hearing impairment, Abnormal earlobe morphology, Hypertrophic cardio... ORPHA:116
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect,... ORPHA:3472
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Abnormal earlobe morphology, Ventricular septal defect ORPHA:96191
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Proteus Syndrome
Low-set ears, Pulmonary embolism, Narrow internal auditory canal, Exostosis of the external audit... ORPHA:744
Liver Disease, Severe Congenital
Recurrent otitis media, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale,... OMIM:619991
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar... ORPHA:95430
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Dystonia, Brain atrophy OMIM:618278
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Constipation, Motor stereotypy, Cryptorchidism OMIM:309000
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral... OMIM:182250

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 Kcnq1

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 Kcnq1.

No publications found that use IMPC mice or data for Kcnq1.

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
Kcnq1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnq1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnq1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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