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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
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... ORPHA:98811
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity OMIM:615493
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 58
Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious beh... OMIM:617270
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia... ORPHA:13
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors OMIM:159900
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Episodic Ataxia, Type 1
Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Axial hypotonia, Aggressive behavior, Chorea, Poor coordination, Inappropriate ... OMIM:619150
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... OMIM:500003
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal py... ORPHA:216873
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity ORPHA:356996
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Athetosis... ORPHA:382
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms OMIM:617171
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing OMIM:618760
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Nathalie Syndrome
Abnormal EKG, Hearing impairment OMIM:255990
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... OMIM:300905
Huntington Disease-Like 1
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Dysmetria OMIM:603218
Chorea, Benign Hereditary
Chorea, Frequent falls OMIM:118700
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia ORPHA:98809
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea, Hypotonia, Generalized hypotonia OMIM:614055
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Chorea, Benign Familial
Chorea OMIM:215450
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign,... OMIM:607483
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... ORPHA:36899
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Axial hypotonia, Opisthotonus... OMIM:619653
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Amyotrophic Lateral Sclerosis 2, Juvenile
Lower limb spasticity, Generalized dystonia, Ataxia, Clonus, Spastic tetraparesis, Dystonia, Head... OMIM:205100
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomy... OMIM:620270
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Hypotonia, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Myoclonu... OMIM:616981
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov... OMIM:619738
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... OMIM:618317
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Self-injurious behavio... OMIM:614254
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia OMIM:213000
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Spinocerebellar Ataxia 17
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Li... OMIM:607136
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Dysphagia OMIM:607674
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Macrotia, ... OMIM:616269
Sydenham Chorea
Chorea, Inappropriate behavior, Hemiballismus, Generalized hypotonia, Compulsive behaviors ORPHA:306731
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, C... ORPHA:300605
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis, Motor tics OMIM:615483
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Spasticity, Abnorma... OMIM:618917
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia, Dysphagia OMIM:271930
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Chorea, Abnor... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Jervell And Lange-Nielsen Syndrome
Syncope, Bilateral sensorineural hearing impairment, Torsade de pointes, Arrhythmia, Prolonged QT... ORPHA:90647
Huntington Disease-Like 2
Chorea, Involuntary movements, Parkinsonism, Dystonia ORPHA:98934
Brunner Syndrome
Self-injurious behavior, Kinetic tremor, Impulsivity, Aggressive behavior OMIM:300615
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Vertigo, Syncope, Arrhythmia ORPHA:871
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... ORPHA:248111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O... OMIM:612716
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Babinski sign, Scissor gai... OMIM:617013
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Dysphagia ORPHA:85162
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal... OMIM:612389
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:616139
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Snijders Blok-Fisher Syndrome
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity OMIM:618604
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Involuntary movements, Chorea, Athetosis, Self-injurious behavior, Hyperkinetic movemen... OMIM:617493
Developmental And Epileptic Encephalopathy 97
Tremor, Hypotonia, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Gastroesophageal ... ORPHA:251061
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Self-biting OMIM:619988
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Pendred Syndrome
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... ORPHA:705
Infantile Dystonia-Parkinsonism
Cerebral palsy, Axial hypotonia, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign... ORPHA:238455
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Hypotonia, Opisthoto... OMIM:619580
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainst... ORPHA:99852
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Hypotonia, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetit... OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia OMIM:618587
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Truncal ataxia, Abnormal... OMIM:312750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Dystonia, Chorea, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia OMIM:277470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasti... OMIM:615924
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Dystonia 16
Limb dystonia, Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia OMIM:613811
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Bilateral sensorineural hearing impairmen... ORPHA:2589
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Vertigo, Congestive... ORPHA:1344
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Abnormal repetitive ... OMIM:619470
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Tics, Attention defici... ORPHA:66624
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive... OMIM:239500
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Vertigo, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Hearing impairment OMIM:614369
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Hypotonia, Opisthotonus, Gait ataxia, Myoclonus, Inappropriat... OMIM:103050
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Axial hypotonia, Opisthotonus OMIM:616896
Huntington Disease-Like 3
Abnormal head movements, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progr... ORPHA:157946
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal... ORPHA:101110
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Left ventricular hypertr... ORPHA:251274
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Branchiootorenal Syndrome 1
Mixed hearing impairment, Intestinal malrotation, Dilatated internal auditory canal, Facial palsy... OMIM:113650
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Hypotonia, Abnormality of extrapyramidal motor function, Dysphagia, Neonat... OMIM:302500
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Dystonia 16
Limb dystonia, Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnorm... OMIM:612067
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonu... OMIM:619847
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, D... OMIM:619317
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder OMIM:618709
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dystonia, Ataxia, Repetitive compulsive behavior, Muscular ventricular sep... ORPHA:66634
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign OMIM:118750
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Axial hypotonia, Ataxia, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia OMIM:618501
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,... ORPHA:79263
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Somatic sensory dysfunction, Optic atrophy, Cardiomyopathy, Progressive gait ataxia... ORPHA:1177
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... ORPHA:98759
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... OMIM:607317
Lopes-Maciel-Rodan Syndrome
Dystonia, Axial hypotonia, Tremor, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus... OMIM:617435
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Abnormality of extrapy... OMIM:617672
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Dysphagia, Spastici... ORPHA:216866
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Ataxia, Spastic tetraplegia, Hypotonia, Eyelid myoclonus, Opisthotonus OMIM:619913
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Spastic diplegia, Generalized hypotonia OMIM:617830
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Self-injurious behavior, Dystonia OMIM:619922
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ... OMIM:618218
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity, Self-mutilation OMIM:308950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles ORPHA:3299
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Sudden cardiac death, Congestive hea... OMIM:610198
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized hypotonia, Paroxysmal dyskinesia ORPHA:79137
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Myoclonus, Intractable, Neonatal
Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation OMIM:617235
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, ... OMIM:617282
Developmental And Epileptic Encephalopathy 101
Hypotonia, Axial hypotonia, Myoclonus, Opisthotonus OMIM:619814
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Hypotonia, Myoclonus, Attention deficit hyperactivity diso... OMIM:617600
Huntington Disease
Dystonia, Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior... ORPHA:399
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... OMIM:618718
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe... ORPHA:157941
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia OMIM:128235
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
D-Glyceric Aciduria
Axial hypotonia, Tongue thrusting, Spastic tetraplegia, Hypotonia, Opisthotonus, Myoclonus, Neona... OMIM:220120
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded ... OMIM:300352
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Chorea, Hypotonia, Generalized hypotonia, Neonatal hypotonia, Spasticity OMIM:618557
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Lesch-Nyhan Syndrome
Dystonia, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extra... OMIM:300322
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder OMIM:616421
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp... OMIM:612736
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Dysphagia, Inte... OMIM:620221
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Distal Deletion 10Q
Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, Protrudi... ORPHA:96148
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dy... OMIM:618088
Kearns-Sayre Syndrome
Ataxia, Third degree atrioventricular block, Hearing impairment ORPHA:480
Apert Syndrome
Esophageal atresia, Sensorineural hearing impairment, Abnormal semicircular canal morphology, Opt... ORPHA:87
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys... ORPHA:251347
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment ORPHA:101075
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Mepan Syndrome
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Myoclonus, Dysp... ORPHA:508093
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Hyperkinetic movements, Hypotonia, Stereotypical hand wringing ORPHA:397933
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Involuntary movements, Clonus, Hypotonia, Opisthotonus, Myoclonus, Gener... OMIM:620352
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Ataxia, Cardiac arrest, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Op... OMIM:616878
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Opisthotonus OMIM:250800
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Developmental And Epileptic Encephalopathy 107
Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia OMIM:620033
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Myoclonus, Oppositional defiant di... OMIM:619028
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls ORPHA:79136
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Dysdia... OMIM:604391
Developmental And Epileptic Encephalopathy 17
Athetosis, Chorea, Dystonia OMIM:615473
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized ... ORPHA:71517
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:618147
Lichtenstein-Knorr Syndrome
Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis... OMIM:616291
Chiari Malformation Type Ii
Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Dysphagia OMIM:207950
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Dystonia, Ataxia, Sensorineural hearing impairment, Optic at... ORPHA:480864
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Prolonged QTc interval, Increased QRS voltage OMIM:619040
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Combined Oxidative Phosphorylation Deficiency 27
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetraparesis, Dystonia OMIM:616672
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... OMIM:616710
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment ORPHA:101078
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Glutaric Acidemia I
Rigidity, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Impaired vibration sensation in the lower limbs, Hand tremor, D... ORPHA:352675
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Hypotonia, Opisthotonus OMIM:613661
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... OMIM:620292
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Hypotonia, Dysmetria, Clumsiness, Gait ataxia, Generalized hypotonia, Spasticity, Intenti... OMIM:608029
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Axial hypotonia, Chorea, Hypotonia, Bruxism, Spasticity OMIM:620149
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Progressive cerebellar ataxia,... ORPHA:485350
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Spastic tetraplegia, Hypotonia, Dystonia, Spasticity ORPHA:599373
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykines... ORPHA:98755
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... OMIM:619092
Huntington Disease-Like 3
Ataxia, Chorea, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:604802
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Axial hypotonia, Tremor, Hypotonia, Dysmetria, Dysphagia OMIM:617916
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Dysp... OMIM:607346
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, G... OMIM:233910
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea, Hypotonia OMIM:309541
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Gitelman Syndrome
Prolonged QT interval, Salt craving, Raynaud phenomenon, Pericardial effusion, Vertigo, Low-to-no... ORPHA:358
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... OMIM:617695
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fascicul... OMIM:614969
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Vertigo, Ventricular tachycardia, Ventricular sept... ORPHA:263297
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, Ankle clonus, Brady... ORPHA:521406
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Dystonia, Progressive extrapyramidal muscu... ORPHA:401768
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnorm... ORPHA:445038
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Axial hypotonia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp... OMIM:618451
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A... ORPHA:275864
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Xq28 (MECP2) duplication
Constipation, Gastroesophageal reflux, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Cleft palate, High palate, Compulsive behaviors, Low-set ears, Attention deficit hyperactivity di... OMIM:620021
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Co... ORPHA:225154
Aminoacylase 1 Deficiency
Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Bradycardi... OMIM:609924
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia, Gait disturbance, D... ORPHA:98764
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Coffin-Siris Syndrome 6
Posteriorly rotated ears, High, narrow palate, Cleft palate, Gastroesophageal reflux, Constipatio... OMIM:617808
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dyst... OMIM:616271
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Cataract-Ataxia-Deafness Syndrome
Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i... ORPHA:1368
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Stereotypical h... OMIM:618497
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Developmental And Epileptic Encephalopathy 40
Axial hypotonia, Spastic tetraparesis, Hypotonia, Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Atrioventricular block, Prominent antihelix, Bradycardia, Truncal ataxia, Macrotia, Int... OMIM:614407
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Infantile axial hypotonia, Chorea, Babinski sign, Titubat... ORPHA:225147
Pontocerebellar Hypoplasia, Type 2E
Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Neonatal hypotonia, Spasticity OMIM:615851
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Neuroferritinopathy
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... ORPHA:157846
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Abnormal repetitive mannerisms, Velopharyngeal i... OMIM:182290
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Aggressive behavior, Eyelid myoclonus OMIM:618357
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... ORPHA:726
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Intellectual Developmental Disorder, Autosomal Recessive 73
Impulsivity, Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:619717
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Abnormal gastric mu... ORPHA:2494
Neonatal Lupus Erythematosus
Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent... ORPHA:398124
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... OMIM:164400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... OMIM:208920
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... OMIM:245348
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Myoclonus, Truncal ataxia, Action myoclonus OMIM:616230
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, High palate... OMIM:618342
Canavan Disease
Abnormal pyramidal sign, Hypotonia, Opisthotonus OMIM:271900
Christianson Syndrome
Gastroesophageal reflux, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive mannerisms ORPHA:85278
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Multiple Mitochondrial Dysfunctions Syndrome 1
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... OMIM:605711
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Generalized hypotonia, Abnormal repetitive mannerisms, Attention deficit hyperact... OMIM:618906
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... ORPHA:2590
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Optic nerve hypoplasia, Low-set ears, Dysphagia, Attention deficit hyperac... OMIM:620029
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer... ORPHA:95433
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
Spinocerebellar Ataxia Type 36
Ataxia, Vertigo, Babinski sign, Limb myoclonus, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... ORPHA:276198
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Pyloric stenosis, Chronic consti... OMIM:300406
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Dysphagia, Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activit... OMIM:617802
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Hypothyroidism, EEG abnormality, High palate, Gastroeso... OMIM:610883
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Low-set ears OMIM:618951
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Generalized hypotonia, Spasticity, Dystonia OMIM:613970
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Chorea, Hypotonia, Hemiparesis, Self-injurious behavior, Bruxism, ... OMIM:618004
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Hand tremor... OMIM:302800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia, Congenital pyloric atresia OMIM:612138
Alg11-Cdg
Axial hypotonia, Ataxia, Opisthotonus, Hypertonia, Infantile muscular hypotonia, Limb hypertonia ORPHA:280071
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... ORPHA:240094
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Ataxia, Optic atrophy, Dysmetria, Telangiectasia, Hepatosplenomegaly,... ORPHA:93400
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Generalized hypotonia, Spasticity OMIM:617931
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears... ORPHA:352490
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Abnormality of... ORPHA:171445
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... OMIM:615157
Nasu-Hakola Disease
Oculomotor apraxia, Chorea, Disinhibition, Spasticity ORPHA:2770
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity, Hearing ... OMIM:609260
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Hyperlysinemia
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Foxg1 Syndrome
Dystonia, Hypotonia, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Spasticity, Abn... ORPHA:561854
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Vertigo, Ventricular tachycardia, Paresthesia, Palpi... OMIM:263800
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Hearing impairment ORPHA:99014
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Poor coordination, Obsessive... ORPHA:544254
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... ORPHA:391417
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... ORPHA:240085
Dpagt1-Cdg
Prolonged QT interval, EEG with generalized slow activity, Ataxia, Akinesia, Aggressive behavior,... ORPHA:86309
Developmental And Epileptic Encephalopathy 32
Tremor, Hypotonia, Ataxia, Myoclonus OMIM:616366
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Dysphagia,... OMIM:616795
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... OMIM:617665
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypertonia, Hypotonia, Tetraplegia, Opisthotonus OMIM:619272
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Axial hypotonia, Babinski sign, Opisthotonus, Limb hyperton... OMIM:618076
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hemiballismus, Spastic tetraparesis OMIM:618567
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Dystonia, Spa... OMIM:615528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Self-inju... ORPHA:449291
Infantile Krabbe Disease
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid... ORPHA:206436
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Otosclerosis, Aggressive behavior, Microtia, Recurrent otitis media, Pulmo... ORPHA:529962
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Cardiomegaly, Chorea, Right bundle branch block, Brachial plexus neuropathy, Reduce... ORPHA:268
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, Chorea, Hypotonia, Generalized hypotonia, Dysphagia, Spasticity ORPHA:70472
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoathetosi... OMIM:618877
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate... OMIM:614104
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Ataxia, Facial hypotonia, Rigidity, R... OMIM:300260
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Ataxia OMIM:613402
Japanese Encephalitis
Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Opisthotonus, Choreo... ORPHA:79139
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dystonia, Frequent falls OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Generalized hypot... OMIM:213200
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, High palate, Bilateral sensorineural hearing impairment, Dysphagia, Self-... OMIM:619422
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa... OMIM:300055
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phonic tics, Hippocam... OMIM:301107
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210200
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormalit... OMIM:615673
Severe Intellectual Disability And Progressive Spastic Paraplegia
Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria, Dystonia, Spasticity, Abnormal re... ORPHA:280763
Friedreich Ataxia
Dystonia, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Po... ORPHA:95
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia, Hearing impa... ORPHA:139485
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Oromandibular Dystonia
Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Blepharospasm, Hyperkinetic movements,... ORPHA:93958
Hsd10 Mitochondrial Disease
Restlessness, Aggressive behavior, Spastic tetraplegia, Hypotonia, Choreoathetosis, Agitation, Ge... OMIM:300438
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Frontal cortical atrophy, Dilated cardiomyopathy, Left ventricular sys... ORPHA:206559
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait OMIM:618387
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Intellectual Developmental Disorder With Autism And Macrocephaly
Pica, Constipation, Recurrent hand flapping, Posteriorly rotated ears OMIM:615032
Autoimmune Hypoparathyroidism
Prolonged QT interval, Abnormal left ventricular function, Paresthesia, Laryngeal dystonia, Ventr... ORPHA:36913
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired ... OMIM:606002
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... ORPHA:217253
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... ORPHA:26793
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor ORPHA:98890
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Self-injurious behavior, EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, ... OMIM:123450
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking ORPHA:477673
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Low-set ears, Pro... OMIM:170390
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Abnormal repetitive mannerisms, Hypotonia OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Self-mutilation, High palate, Macrotia, Ab... ORPHA:457240
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Leukodystrophy, Hypomyelinating, 6
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... OMIM:612438
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations, Dysphagia OMIM:614808
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Impa... OMIM:229300
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Spinocerebellar Ataxia 27B, Late-Onset
Vertigo, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Mitochondrial Complex I Deficiency, Nuclear Type 12
Axial hypotonia, Ataxia, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Frequent f... OMIM:301020
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Pica, EEG abnormality, Constipation, High palate, Low-set ears, Recurrent hand flapping OMIM:618480
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... ORPHA:411986
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent... OMIM:617182
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Tremor, Hypotonia, Dysd... OMIM:618049
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... OMIM:616719
Developmental And Epileptic Encephalopathy 67
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia OMIM:618141
Charge Syndrome
Hypoplasia of the semicircular canal, Gastroesophageal reflux, Compulsive behaviors, Low-set, pos... ORPHA:138
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Dysmetria, Right bundle... OMIM:616479
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macrotia, Cardiomegaly OMIM:300886
Charcot-Marie-Tooth Disease And Deafness
Tremor, Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Gait disturbance OMIM:118300
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, At... ORPHA:228360
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Resting tremor, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Impaired dista... ORPHA:99027
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Cln3 Disease
Cerebellar atrophy, Ataxia, Aggressive behavior, Optic atrophy, T-wave inversion, Generalized cer... ORPHA:228346
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Neuromuscu... ORPHA:206443
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations, Dysphagia OMIM:313200
Intellectual Developmental Disorder, Autosomal Recessive 79
Broad-based gait, Incoordination, Tongue thrusting, Gait ataxia, Intention tremor OMIM:620393
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Hypotonia, Choreoathetosis, Progressive spast... OMIM:612233
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... OMIM:128100
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Generalized hypotonia, Apraxia, Neonatal ... OMIM:613454
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Choreoathetosis, Self-injurious behavior, Hypertonia OMIM:620023
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B... ORPHA:369939
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
22Q11.2 Duplication Syndrome
Cleft palate, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity ... ORPHA:1727
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Dysphagia, Distal sensory impairment OMIM:607734
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... OMIM:615905
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Folinic Acid-Responsive Seizures
Ataxia, Spastic tetraparesis, Chorea, Hypertonia, Dystonia ORPHA:79097
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait disturbance, Progre... OMIM:210000
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple, Gastroesophageal reflux, High palate, Low-set ears, Abnormal repetitive man... OMIM:616579
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormal heart morphology, T-wave inversion, ... ORPHA:1666
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... ORPHA:308552
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Sensorineural hearing impairment, Cleft palate, Gastroesophageal reflux, Attent... ORPHA:261197
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Hyp... OMIM:183090
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Axial hypotonia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Pro... OMIM:608804
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Dystonia, Cardiomegaly, Optic atrophy, Cerebral atrophy, ... ORPHA:391428
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Ck Syndrome
High palate, Hyperactivity, Posteriorly rotated ears, Aggressive behavior ORPHA:251383
Lissencephaly Due To Lis1 Mutation
Axial hypotonia, Tetraplegia, Opisthotonus, Progressive spastic quadriplegia, Neonatal hypotonia ORPHA:95232
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Constipati... ORPHA:10
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoc... OMIM:137440
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Const... ORPHA:391372
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Opisthotonus ORPHA:3304
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Constipation, Low-set ears, Comp... OMIM:618027
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal autonomic n... ORPHA:330001
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Tongue fasciculations, Myoclonus, Dysphagia, Frequent falls OMIM:159950
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Bilateral Generalized Polymicrogyria
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclo... ORPHA:208447
Pontocerebellar Hypoplasia, Type 8
Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Gait ataxia, Hypertonia, Generalized h... OMIM:614961
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Acitretin/Etretinate Embryopathy
Cupped ear, Conotruncal defect, Microtia, Bradycardia, Third degree atrioventricular block, Bilat... ORPHA:40366
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, High palate, Abnormal repetitive manneri... ORPHA:397612
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypotonia, Hypertonia, Spasticity ORPHA:33445
Trisomy 18P
Abnormal pinna morphology, Facial palsy, Bilateral cryptorchidism, High, narrow palate, Pyloric s... ORPHA:1715
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, Abnormal re... ORPHA:261144
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia of the semicircular can... ORPHA:648
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, High palate, Agitation, Macrotia OMIM:300558
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Sensorineural hearing impairment, Vomiting, Hiatus hernia OMIM:609727
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Diarrhea, Vomiting, Constipation, Polydipsia, Enlarged vestibul... ORPHA:18
Ck Syndrome
High palate, Hyperactivity, Posteriorly rotated ears, Aggressive behavior OMIM:300831
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Sensorineural hearin... OMIM:266500
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,... OMIM:613327
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Positive... ORPHA:94125
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Car... ORPHA:1215
Congenital Myopathy 24
Cardiomyopathy, Facial palsy, First degree atrioventricular block OMIM:617336
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Sensorineural hearing impairment, ... ORPHA:3463
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, ... ORPHA:352641
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... OMIM:619556
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Crouzon Syndrome
Optic atrophy, Narrow palate, Conductive hearing impairment, Narrow internal auditory canal, Hear... ORPHA:207
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus OMIM:619685
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity, Infantile muscular hypotonia ORPHA:941
3P25.3 Microdeletion Syndrome
High, narrow palate, Sensorineural hearing impairment, Pyloric stenosis, Abnormal repetitive mann... ORPHA:435638
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave, Tin... ORPHA:231625
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Laryngeal dystonia, Paresthesia ORPHA:94090
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Bulimia, Self-biting, Hypsarr... OMIM:300912
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Congenital sensorineural hearing impairment, Sensorineural hearing impairment,... ORPHA:500159
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, High, narrow palate, Large earlobe, High pa... OMIM:619312
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Chronic diarrhea, Chronic constip... OMIM:617788
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Hyperactivity, First degree atrioventricular block, Abnormal cardiac septum ... ORPHA:589821
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia ORPHA:306669
Spastic Paraplegia 86, Autosomal Recessive
Choreoathetosis, Babinski sign, Spastic paraplegia, Ataxia OMIM:619735
Congenital Fibrinogen Deficiency
Opisthotonus ORPHA:335
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Infantile muscular hypotonia, Truncal ataxia ORPHA:369847
3-Methylglutaconic Aciduria, Type Ix
Clonus, Aggressive behavior, Hypotonia, Choreoathetosis, Hypertonia, Generalized hypotonia, Spast... OMIM:617698
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Large earlobe, High palate, Low-set ears OMIM:617752
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Constipation, Compulsive behaviors,... OMIM:618430
Developmental And Epileptic Encephalopathy 1
Dystonia, Axial hypotonia, Spastic tetraparesis, Abnormal pyramidal sign, Dysphagia, Choreoatheto... OMIM:308350
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Leukodystrophy, Hypomyelinating, 16
Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Dystonia... OMIM:617964
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Vertigo, Slurred speech, Truncal ataxia, Dysmetria, Progressive cerebella... OMIM:183086
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Gastroesophageal reflux, Bruxism OMIM:300434
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Narrow palate, High palate, Post... OMIM:613684
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Cerebral palsy, Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210210
Birk-Aharoni Syndrome
Chorea, Axial hypotonia, Spastic tetraplegia OMIM:620071
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... ORPHA:98909
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... ORPHA:31826
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Hypsarrhythmia, EEG abnormality, Hi... OMIM:617773
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... OMIM:301008
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... ORPHA:64753
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Parkinsonism, Aggressi... OMIM:200150
Microtriplication 11Q24.1
Attached earlobe, Posteriorly rotated ears, Cleft palate, Bruxism, Hearing impairment ORPHA:289522
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Chronic constipation, Self-injurious behavior, High palate, Compulsive behav... OMIM:617061
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Crisponi/Cold-Induced Sweating Syndrome 1
Opisthotonus OMIM:272430
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, High palate, Low-set ears OMIM:618205
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Coenzyme Q10 Deficiency, Primary, 4
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus OMIM:612016
Developmental And Epileptic Encephalopathy 46
Tremor, Axial hypotonia, Dysphagia, Limb hypertonia OMIM:617162
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Kleefstra Syndrome 1
Abnormal pinna morphology, Protruding tongue, Aggressive behavior, Cryptorchidism, Macroglossia, ... OMIM:610253
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Pyloric stenosis, Atresia of the external auditory canal OMIM:133705
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Spasticity, Abn... OMIM:617807
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Postural tremor, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia... OMIM:607454
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, High palate, Compulsive behaviors, Low-set ear... OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Lim... ORPHA:70594
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chronic... ORPHA:457279
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abnormal ga... ORPHA:512
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Left axis deviation, Double outlet right ventricle, Single ventricle of indetermi... OMIM:620294
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Sensorineural hearing impairment, Choreoathetosis, Hypertension, Paresthes... ORPHA:79443
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Axial hypotonia, Choreoathetosis, Hypertonia, Agitation, Generalize... OMIM:272300
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Vertigo, Muco... ORPHA:324
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Bundle branch block, Abnormal endocardium morphology, Abnormal... ORPHA:500
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Axial hypotonia, Involuntary movements, Dysphagia, Spasticity, Abnormal repetitive mannerisms ORPHA:572013
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Precocious puberty, Cleft palate, Bifid uvula, Hearing impair... OMIM:300958
2Q37 Microdeletion Syndrome
Supernumerary nipple, Pyloric stenosis, Compulsive behaviors, Attention deficit hyperactivity dis... ORPHA:1001
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment OMIM:619473
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Hypotonia, Generalized hypotonia... OMIM:250100
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Cryptorchidism, Congenital pyloric atresia, EEG abnormality ORPHA:2617
Kearns-Sayre Syndrome
Ataxia, Sensorineural hearing impairment, Cardiomyopathy, Third degree atrioventricular block, Ar... OMIM:530000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Large earlobe, Cleft palate, Bruxism OMIM:615716
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia, Abnormal repet... OMIM:619435
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Poor motor coordination, Ataxia, Severe muscular hypotonia, Tremor, Rigi... ORPHA:25
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block OMIM:300695
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Molybdenum Cofactor Deficiency, Complementation Group B
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonic spasms OMIM:252160
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Aggressive behavior, Hearing impairment ORPHA:457260
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Gastroesophageal reflux, Low-set ears, Attention defici... OMIM:619293
Hijazi-Reis Syndrome
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Hypotonia OMIM:301094
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor, Hearing impairment ORPHA:98771
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Cleft palate, EEG abnormality, Self-injurious behavior, Const... ORPHA:819
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Head titubation, Tremor... OMIM:312080
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
X-Linked Intellectual Disability, Cantagrel Type
Neonatal hypotonia, Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Hypotonia, Myoclonus OMIM:609056
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairmen... OMIM:618652
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia OMIM:617106
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Aggressive behavior, Optic atrophy, Narrow palate, Self-injurio... ORPHA:313892
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Generalized... OMIM:610042
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Tremor, Shortened PR interval, Obesity, Weight loss, Impaired myocardial c... ORPHA:79102
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pyloric stenosis, High palate, Low-set ears, Macrotia ORPHA:314575
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ... ORPHA:48818
Ogden Syndrome
Abnormal head movements, Torticollis, Ventricular septal defect, Cerebral atrophy, Low-set ears, ... ORPHA:276432
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Abnormal muscle tone, Myoclonic spasms OMIM:252150
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial hypo... ORPHA:508533
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Ton... OMIM:608643
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Mucopolysaccharidosis Type 3
Cardiomegaly, Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairm... ORPHA:581
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cerebral atrophy, Facia... OMIM:160900
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... OMIM:607694
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Microglossia, Narrow internal auditory canal, Abnorma... ORPHA:990
Kleefstra Syndrome
Supernumerary nipple, Bowel incontinence, Aggressive behavior, Cryptorchidism, Pyloric stenosis, ... ORPHA:261494
Intellectual Disability, Birk-Barel Type
High, narrow palate, Hyperactivity, Dysphagia, Protruding ear ORPHA:166108
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Low-set ears, ... OMIM:300048
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Axial hypotonia, Aggressive behavior, Chorea, Spastic tetraplegia, ... OMIM:618321
Brain-Lung-Thyroid Syndrome
Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abnormal eating behavior,... ORPHA:209905
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Submucous cleft hard palate, Head-banging, Low-set ears, Attention deficit hypera... OMIM:619103
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... OMIM:620066
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Hyperactivity, Decreased response to growth hormone stimulation test, Agg... OMIM:615286
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculomotor apraxia, S... ORPHA:1170
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia, Dysphagia OMIM:304700
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity OMIM:618238
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Bilateral facial palsy, Dysphagia ORPHA:254361
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Charge Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... OMIM:214800
Trisomy X
Tremor, Hypotonia, Attention deficit hyperactivity disorder ORPHA:3375
Nipah Virus Disease
Tremor, Myoclonus, Anorexia ORPHA:99825
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Hypotonia, Poor fine motor coordination, Bradykinesia, Obsessive-... ORPHA:36387
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Facial hypotonia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea... ORPHA:2131
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re... OMIM:616364
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, High palate, A... ORPHA:2479
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Crigler-Najjar Syndrome Type 1
Tremor, Infantile muscular hypotonia ORPHA:79234
Intellectual Developmental Disorder, Autosomal Dominant 22
Abnormal pinna morphology, Gastroesophageal reflux, Low-set ears, Bruxism, Stereotypical hand wri... OMIM:612337
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Neonatal hypotonia, Spasti... OMIM:617864
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Gaucher Disease, Perinatal Lethal
Dysphagia, Opisthotonus OMIM:608013
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... ORPHA:522077
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myo... ORPHA:363400
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Microtia, High palate, Stereotypical body rocking,... ORPHA:293939
White-Sutton Syndrome
Abnormality of the gastrointestinal tract, Hyperactivity, Posteriorly rotated ears, Aggressive be... ORPHA:468678
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Impulsivity, Aggressive behavior, Chronic constipation, Microtia... OMIM:616977
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Myoclo... ORPHA:442835
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, High palate, Abnormal auditory evoked potentials OMIM:617523
Wolfram Syndrome 2
Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Gastric ulcer OMIM:604928
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
4H Leukodystrophy
Dystonia, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of ... ORPHA:289494
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Vertigo, ST segment depression, Hypotension, Abnormal T-wave, Abno... ORPHA:466650
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Gastroparesis, Congenital sensorineural hear... OMIM:157800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Tricuspid regurgitation, Ataxia, Optic atrophy, Dysmetria, Right bundle branc... OMIM:619576
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ch... OMIM:619695
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Dystonia, Ataxia, Involuntary movements, Chorea, Hypotonia, Bruxism, Stereotypical hand wringing OMIM:617804
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
19P13.3 Microduplication Syndrome
Hyperactivity, Posteriorly rotated ears, Unilateral cryptorchidism, Precocious puberty, Cleft pal... ORPHA:447980
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Restlessness, Aggressive behavior, Cryptorchidism, Multifocal ep... ORPHA:369891
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves ORPHA:2382
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Riboflavin Transporter Deficiency
Ataxia, Aggressive behavior, Tremor, Progressive hearing impairment, Myoclonus, Dysphagia ORPHA:97229
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... ORPHA:227510
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Macrotia, Gastritis ORPHA:2575
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls OMIM:618416
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Vertigo, Syncope, Orthostatic syncope ORPHA:230
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Abnormal heart morphology, Large earlobe, Abnormal tricu... ORPHA:485405
Den Hoed-De Boer-Voisin Syndrome
Lactose intolerance, EEG with focal spike waves, Posteriorly rotated ears, Multifocal epileptifor... OMIM:619229
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, EEG abno... OMIM:271980
Coffin-Siris Syndrome 2
Hyperactivity, Abnormal pinna morphology, Cryptorchidism, Cleft palate, Macroglossia, High palate... OMIM:614607
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Macroglossia, Hypo... OMIM:300354
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh... ORPHA:75567
Chromosome 15Q11.2 Deletion Syndrome
Cleft palate, Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:615656
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... ORPHA:309271
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dystonia, Dysphagia, Limb hypertonia OMIM:618247
Phelan-Mcdermid Syndrome
Aggressive behavior, Abnormal repetitive mannerisms, Tongue thrusting, Protruding ear, Gastroesop... OMIM:606232
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Cleft palate, Microtia, Low-set ears, Bifid uvula OMIM:618089
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Tachycardia, Abnormal repetitive mannerisms, Hypoten... ORPHA:79155
Mcleod Syndrome
Chorea, Dystonia, Compulsive behaviors, Impaired vibration sensation at ankles OMIM:300842
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Hypotonia, Self-injurious behavior, Abnormal repetitive manner... ORPHA:228402
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,... ORPHA:420492
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Gastroesophageal reflux, Compulsive behaviors, Attention deficit hyperactivity dis... OMIM:619927
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inappropriate laughter, Polyph... ORPHA:411515
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Attention deficit hyperactivity disord... ORPHA:281090
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Low-set ears, Bruxism, A... OMIM:616393
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Axial hypotonia, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia... OMIM:617710
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mannerisms, Bifid uvula OMIM:615802
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:168600
Spinocerebellar Ataxia Type 42
Resting tremor, Upper limb postural tremor, Vertigo, Babinski sign, Unsteady gait, Gait ataxia, H... ORPHA:458803
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia, Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Sensorineural hearing impairment, Head-banging, Hematochezia, Chronic consti... OMIM:619575
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Gastroesophageal reflux, Low-set ear... ORPHA:447997
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Vertigo, Optic a... OMIM:619259
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... OMIM:212138
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired vibratory s... ORPHA:2388
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Chronic constipation, High palate, Attention deficit hyperactivity disorder,... OMIM:618825
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Protruding tongue, Aggressive behavior, Sensorineural hearing impairmen... OMIM:212066
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG wi... ORPHA:1929
Classic Phenylketonuria
Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder... ORPHA:79254
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Childhood Absence Epilepsy
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Rec... ORPHA:1772
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Tremor, Sensorineural hearing impairment, Limb ataxia, Cardiomyopathy, Posi... OMIM:105210
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia OMIM:619790
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Sensorineural hearing impairment, Dysmetria, Cardiomyop... OMIM:256550
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Rheumatic Fever
Hemiballismus, Chorea, Fasciculations, Anorexia ORPHA:3099
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Bundle branch block, Prolonged QT interval, Hepatomegaly, Vent... ORPHA:373
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment OMIM:252900
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Constipation, Vomiting, Chronic otitis media, Self-mutilation, Hea... ORPHA:412035
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Cardiomegaly OMIM:613576
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Cystathioninuria
Tremor ORPHA:212
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Laryngeal dystonia, Paresthesia ORPHA:94089
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, EEG with generalized poly... ORPHA:163681
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Axial hypotonia, Severe muscular hypotonia, Dystonia OMIM:614932
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype... OMIM:616505
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Obesity, Paresthesia, Laryngeal dystonia, Polyphagia ORPHA:79444
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Agitation, Gait disturbance, Difficulty walking, D... ORPHA:778
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Intestinal malrotation, Supernumerary nipple, Precocious puberty, Crypt... OMIM:615485
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Tricuspid regurgitation, Abnormal pinna morphology, Impaired pain sensation, Tics,... ORPHA:261211
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... OMIM:300280
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, High palate OMIM:615637
Developmental And Epileptic Encephalopathy 74
Choreoathetosis, Hypotonia OMIM:618396
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... ORPHA:206594
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... ORPHA:488618
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... ORPHA:3092
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Sensorineural hearing impairment, El... OMIM:608747
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Hypotonia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper... ORPHA:530983
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoa... ORPHA:2524
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... ORPHA:392
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone... ORPHA:363528
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Cupped ear, Self-injurious behavior, Gastroesophageal reflu... OMIM:610954
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms, Generalized hypotonia ORPHA:529965
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Leopard Syndrome 1
Bundle branch block, Posteriorly rotated ears, Complete atrioventricular canal defect, Sensorineu... OMIM:151100
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Tick-Borne Encephalitis
Facial palsy, Nausea, Anorexia, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyn... ORPHA:297
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co... ORPHA:168491
Stankiewicz-Isidor Syndrome
Hyperactivity, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Low-set ears, Hearing... OMIM:617516
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Posteriorly rotated ears, Optic atrophy, Cerebral atrophy, Right bundle branc... OMIM:618590
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Ataxia, Tremor, Opt... OMIM:614947
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, S... OMIM:601853
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bowel incontinence, Optic atrophy, Chronic constipation, Dysphagia, Macrotia, Abnormal repetitive... ORPHA:496641
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Dystonia, Hypertrophic cardiomyop... OMIM:614702
Scorpion Envenomation
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Tremor, C... ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Decreased circulating parathyroid ho... OMIM:240300
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Cryptorchid... ORPHA:794
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Generalized hypotonia,... OMIM:618060
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Dystonia, Episodic ataxia OMIM:312170
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... OMIM:618056
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protru... OMIM:301030
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:858
Nabais Sa-De Vries Syndrome, Type 2
Hemiparesis, Chorea, Neonatal hypotonia, Dystonia OMIM:618829
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Hypotonia, Athetosis, Hyperkinetic movements, G... OMIM:615356
Marbach-Schaaf Neurodevelopmental Syndrome
Posteriorly rotated ears, Aggressive behavior, Submucous cleft hard palate, Attention deficit hyp... OMIM:619680
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Atrial septal defect, Hyperactivity, Ventricular septal defect, External ea... ORPHA:254346
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Choreoathet... ORPHA:59
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuf... OMIM:168601
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Abnormal repetitive mannerisms, High palat... OMIM:618347
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Dystonia, Abnormal T-wave, Hea... OMIM:241080
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Diarrhea, Dysphagia, Hearing impairment OMIM:252930
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... ORPHA:365
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Precocious puberty, High palate, Low-set ears, Bruxism,... ORPHA:324313
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis... ORPHA:464306
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysph... ORPHA:683
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... ORPHA:98794
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment, Vomiting OMIM:615824
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis OMIM:612164
Cystinosis
Malabsorption, Nephrogenic diabetes insipidus, Hypothyroidism, Vomiting, Delayed puberty, Type I ... ORPHA:213
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Lef... OMIM:617713
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... ORPHA:457351
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Progressive hearing impairm... ORPHA:43
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Chronic constipation, Attention def... OMIM:301069
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Cimdag Syndrome
Ataxia, Chorea, Hypotonia, Dystonia, Spasticity OMIM:619273
Alpha-N-Acetylgalactosaminidase Deficiency
Vertigo, Cardiomegaly, Cerebral cortical atrophy, Hearing impairment ORPHA:3137
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Refsum Disease
Ataxia, Heart block, Splenomegaly, Sensorineural hearing impairment, Cardiomyopathy ORPHA:773
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia of the inner ear... ORPHA:2306
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Congenital sensorineural hearing impairment, Sensorineu... ORPHA:73272
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Infantile muscular hypotonia, Truncal ataxia ORPHA:369840
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping OMIM:617903
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Sensorineural hearing impairment, Hypertonia, Gait disturbance ORPHA:1192
Neu-Laxova Syndrome
Opisthotonus ORPHA:2671
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Otofaciocervical Syndrome 1
Mixed hearing impairment, Hypoplasia of the cochlea, Cupped ear, High palate, Conductive hearing ... OMIM:166780
Migraine, Familial Hemiplegic, 2
Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Keppen-Lubinsky Syndrome
Hypertonia, Spastic tetraparesis, Opisthotonus OMIM:614098
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Ma... OMIM:301040
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, High palate, Abnormal autonomic nervous... ORPHA:300570
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... ORPHA:99228
Monosomy X
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Atrial septal defect, Bicuspid aortic valve, Myocardial infarction, Extern... ORPHA:881
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, High palate, Attention deficit hyper... OMIM:620242
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, Attention def... OMIM:300986
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... OMIM:617865
Wiedemann-Steiner Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Gastro... ORPHA:319182
47,Xyy Syndrome
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Increased s... ORPHA:8
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Gai... ORPHA:411511
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Pilarowski-Bjornsson Syndrome
Speech apraxia, Abnormal repetitive mannerisms, Hypotonia OMIM:617682
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Dystonia, Sp... ORPHA:765
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Ataxia, Tremor, Optic atrophy, Hypertensi... ORPHA:90321
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ... OMIM:619428
Amish Nemaline Myopathy
Tremor, Neonatal hypotonia ORPHA:98902
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, Self-injurious b... ORPHA:58
Norrie Disease
Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ea... ORPHA:649
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Cleft pa... ORPHA:401973
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Generalized hypotonia, Oculomotor apraxia, Spasticity ORPHA:529665
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Agitation ORPHA:276608
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Lyme Disease
Arrhythmia, Paresthesia, Atrioventricular block ORPHA:91546
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Hydranencephaly
Spastic diplegia, Opisthotonus ORPHA:2177
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Leigh Syndrome
Dystonia, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Infantile muscular hypotonia, ... ORPHA:506
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Cupped ear, Protruding ear, Macroglossia, Self-injurious behavior, Microtia,... OMIM:156200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Precocious puberty... OMIM:301066
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Keppen-Lubinsky Syndrome
Hypertonia, Spastic tetraparesis, Opisthotonus ORPHA:435628
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Cerebral atrophy OMIM:269920
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Cryptorchidism, Protruding ear, Posterior pituitary hypoplasia, Gastroesophage... ORPHA:464311
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Cryptorchidism, Hypoplastic nipples, Macrotia, Bifid uvula OMIM:618505
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Lo... OMIM:620075
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Spasticity, Infantile muscular hypotonia ORPHA:85285
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat... ORPHA:447753
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Arthrogryposis, Distal, Type 2A
Cryptorchidism, High palate, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu... ORPHA:580
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho... OMIM:617675
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Cryptorchid... ORPHA:96121
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns... ORPHA:1942
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Internal hemorrhage, Hepatomeg... ORPHA:99827
Developmental And Epileptic Encephalopathy 100
Axial hypotonia, Chorea, Hypotonia, Gait ataxia, Choreoathetosis, Appendicular hypotonia, Myoclon... OMIM:619777
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Facial palsy, Left bundle branch block, Arrhythmia, Ventricular bigeminy OMIM:610131
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Aortic valve stenosis, Hypoplastic left heart, Incomplete parti... OMIM:617660
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Cryptorchidism, Anteriorly placed anus, High palate, Low-set ears, Overfold... OMIM:618653
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Hypertension, Microtia, Low-set ears, Pulmonary arterial hypertension OMIM:613320
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Hiatus hernia, Aggressive behavior, Protrudin... OMIM:614756
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic ... OMIM:619512
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, High palate, Hypsarrhythmia OMIM:618916
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy, Intention tremor OMIM:619322
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Protruding ear OMIM:618798
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Cryptorchidism, Pyloric stenosis, A... OMIM:619148
East Syndrome
Salt craving, Ataxia, Inability to walk, Sensorineural hearing impairment, Difficulty walking, Po... ORPHA:199343
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Self-injurious behavior, Microtia, Stereotypical body rocking, H... ORPHA:261323
Familial Atrial Fibrillation
Atrial fibrillation, Myocardial infarction, Vertigo, Syncope, Palpitations ORPHA:334
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Pulmonic stenosis, Failure to thrive OMIM:619239
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Protruding ear, ... OMIM:617988
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait distur... ORPHA:35069
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Hypotonia, Anorexia, Dystonia ORPHA:79312
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Abnormal repetitive mannerisms ORPHA:927
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity ORPHA:2828
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... ORPHA:371428
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Cleft palate, Pineal cyst, S... ORPHA:513456
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Tricuspid regurgitation, Posteriorly rotated ears, Optic nerve hypoplasia, ... OMIM:617506
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ventricular septal defect, Low-set ears, Mitral valve prolapse ORPHA:444072
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Ca... ORPHA:158687
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Sel... ORPHA:468631
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Sensorineural hea... OMIM:617063
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Sensorineural hearing impairment, Unusual gastrointestinal infection ORPHA:760
Intellectual Developmental Disorder, X-Linked 12
Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance, Spasticity OMIM:300957
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Furrowed tongue, Protruding ear... OMIM:300534
Angelman Syndrome
Abnormality of the gastrointestinal tract, Optic disc pallor, Hyperactivity, Precocious puberty i... ORPHA:72
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Hamamy Syndrome
Prolonged QRS complex, Complete atrioventricular canal defect, Sensorineural hearing impairment, ... OMIM:611174
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Bruxism,... ORPHA:453499
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Abnormal earlobe morphology, EEG abnormality, High palate, Hy... ORPHA:85293
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Dysmetria, Clu... ORPHA:845
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... ORPHA:79330
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Aggressive behavior, Diarrhea, Macroglossia, Agitation, Low-set ears... OMIM:252940
Woodhouse-Sakati Syndrome
Protruding ear, Choreoathetosis, Bilateral sensorineural hearing impairment, Dystonia, Abnormal T... ORPHA:3464
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Protruding ear, Right bundle branch block, Low... OMIM:617403
Kinsship Syndrome
Chronic constipation, Ankyloglossia, Gastroesophageal reflux, Low-set ears, Bruxism, Abnormal rep... OMIM:619297
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor... ORPHA:909
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, High palate, Compulsive behaviors, Low-set ears, Macroorchidi... OMIM:309520
Okur-Chung Neurodevelopmental Syndrome
Protruding tongue, Cupped ear, High palate, Constipation, Low-set ears, Attention deficit hyperac... OMIM:617062
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma OMIM:613490
Williams Syndrome
Rectal prolapse, Protruding ear, Gastroesophageal reflux, Compulsive behaviors, Chronic otitis me... ORPHA:904
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ... OMIM:617021
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Ma... ORPHA:139396
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Pyloric stenosis, Sensorineural hearing impairment, Cryptorchi... ORPHA:1606
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Hyperactivity, Cryptorchidism, Cleft palate, Protruding ear, H... ORPHA:3379
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... OMIM:619051
Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Dystonia, Parkinsonism, Impulsivity, Rigidity, Slurred speech, Leg dystonia, Chore... ORPHA:157850
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Houge-Janssens Syndrome 3
Abnormal repetitive mannerisms, Self-injurious behavior, High palate, Attention deficit hyperacti... OMIM:618354
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia, Hypotonia OMIM:610688
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive behavior, High, n... ORPHA:369950
Pettigrew Syndrome
Aggressive behavior, Hypotonia, Gait ataxia, Choreoathetosis, Self-injurious behavior, Spasticity... OMIM:304340
African Trypanosomiasis
Papilledema, Pericarditis, Abnormal EKG, Hepatomegaly, Somatic sensory dysfunction, Aggressive be... ORPHA:3385
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysmetria, S... OMIM:618527
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Chorea, Gait ataxia, Hypertonia, Dysphagia, Spasticity, Infantile muscular hypo... ORPHA:255210
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... OMIM:601992
Episodic Ataxia Type 1
Choreoathetosis, Poor coordination, Hypertonia, Clumsiness ORPHA:37612
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Overfolded helix, Gastroesophageal reflux, Low-set ears... OMIM:617330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... ORPHA:353281
Seckel Syndrome 1
Hyperactivity, Abnormal pinna morphology, Cryptorchidism, Cleft palate, High palate, Low-set ears OMIM:210600
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment OMIM:618838
Graves Disease, Susceptibility To, 1
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Abnormal earlobe morphology, Duodenal ste... ORPHA:141127
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Tremor, Hypotonia, Hypertonia, Generalized hypotonia OMIM:608093
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Cryptorchidism, Narrow palate, Self-injurious behavior, High ... OMIM:616078
Angelman Syndrome
Broad-based gait, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Limb tremor, Obesity, EEG... OMIM:105830
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, F... OMIM:615873
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Posteriorly rotated ears, Ventricular septal defect, Cardiomegaly, Large fleshy ears, Low-set ear... OMIM:616897
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Tremor, Congestive heart failure, Splenomegaly,... ORPHA:525731
Schinzel-Giedion Midface Retraction Syndrome
Opisthotonus OMIM:269150
Koolen-De Vries Syndrome
Hyperactivity, Impulsivity, Anteverted ears, Cryptorchidism, Pyloric stenosis, Cleft palate, Narr... OMIM:610443
Glass Syndrome
Restlessness, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Cleft palate, High pa... OMIM:612313
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypotonia, Dysmetria OMIM:615578
Proximal 16P11.2 Microduplication Syndrome
Tremor, Attention deficit hyperactivity disorder, Hypotonia, Compulsive behaviors ORPHA:370079
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hepatomegaly, Posteriorly rotated ears, Ataxia, Cardiomegaly, Cerebral atroph... OMIM:618143
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Hypotonia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Anorectal anomaly, Cleft palate, Ste... ORPHA:233
Cockayne Syndrome B
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Small for gestational age... OMIM:133540
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Sensorineural hearing impairment, Myoclonus, Dysphagia, Loss of ambulation, Right... OMIM:607426
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Cupped ear, Midgut malrotation, Cleft pal... OMIM:263750
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath... OMIM:235200
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Celiac disease, Cryp... OMIM:619325
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Dysphagia ORPHA:397744
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus ORPHA:43116
Legius Syndrome
Hyperactivity, Dystonia, Paroxysmal atrial tachycardia, Mitral valve prolapse, Vestibular schwann... ORPHA:137605
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Arrhythmia, Ataxia, Cardiomegaly ORPHA:42
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Maternal Phenylketonuria
Hypoplastic helices, Hyperactivity, Esophageal atresia, High palate ORPHA:2209
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Hepatoblastoma, Dysphagia, Hypsar... ORPHA:798
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Thyroid lymphangiectasia, Cryptorchidism, Sensorineural hearing impairment, Rectal... OMIM:235510
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Lo... ORPHA:572798
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... OMIM:216400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Facial hypotonia, Chorea, Athetosis, Hyperkinetic movements, Impaired oropharyngeal swallow respo... ORPHA:404454
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young... ORPHA:96149
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cupped ear, Optic atrophy, Protruding ea... OMIM:309590
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Tetraparesis ORPHA:27
Cardiofaciocutaneous Syndrome 1
Posteriorly rotated ears, Submucous cleft hard palate, Optic nerve dysplasia, Tongue thrusting, A... OMIM:115150
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Protruding ear, High palate, Vomiting, Otitis media, Tics, Compulsive behavi... OMIM:619475
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... OMIM:212140
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Sensorineural hearing impairment, Vocal cord paralysis, Distal sensory... ORPHA:99956
Treacher-Collins Syndrome
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Microtia, High palate, Hyp... ORPHA:861
Chromosome 18Q Deletion Syndrome
Tremor, Chorea, Poor coordination, Hypotonia, Generalized hypotonia OMIM:601808
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine ... ORPHA:93111
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Sensorineural hearing impairment, Esophageal varix, Gastric ulcer, Abnormal temper t... ORPHA:2072
Floating-Harbor Syndrome
Restlessness, Impulsivity, Aggressive behavior, Celiac disease, Cryptorchidism, Precocious pubert... ORPHA:2044
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Hyperactivity, Macrotia, Optic atrophy OMIM:617281
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, High, narrow palate, Multifocal epileptiform discharges, ... ORPHA:369837
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, Constipation, Gastroesophageal reflux, Abnormal repetitive mannerisms, EEG with g... OMIM:300672
Wolfram Syndrome 1
Tremor, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:222300
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis OMIM:617186
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... OMIM:620330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Vertigo, Lip telangi... ORPHA:79280
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Low-set ears OMIM:619636
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Arboleda-Tham Syndrome
Posteriorly rotated ears, Intestinal malrotation, Anteverted ears, Bilateral cryptorchidism, Abno... OMIM:616268
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Agitation, Dysphagia ORPHA:94093
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Protruding tongue, Aggressive behavior, Optic disc coloboma, Ma... OMIM:213300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Lo... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:476126
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Diabetes insipidus, Malabsorption, Crypto... ORPHA:534
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Cleft palate, Hypsarrhythmia, EEG abnormality, Gastroesophageal reflux,... OMIM:301044
Epidermolysis Bullosa Simplex With Pyloric Atresia
Microtia, Vomiting, Congenital pyloric atresia ORPHA:158684
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Supernum... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Optic nerve hypoplasia, Supernum... ORPHA:352665
Pelizaeus-Merzbacher Disease
Ataxia, Hypotonia, Choreoathetosis, Dystonia, Spasticity ORPHA:702
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Low-set ears, Attention de... OMIM:614294
Sandifer Syndrome
Abnormal head movements, Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Episod... ORPHA:71272
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivi... OMIM:620073
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Tongue thrusting, EEG with focal epileptiform discharges, EEG abnormality, Dys... ORPHA:98795
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Right bundle branch block, ... OMIM:617402
Nijmegen Breakage Syndrome
Anal stenosis, Hyperactivity, Diarrhea, Cleft palate, Recurrent otitis media, Macrotia, Recurrent... OMIM:251260
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... ORPHA:431361
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary... OMIM:614008
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature... OMIM:268800
Bone Marrow Failure Syndrome 3
Hyperactivity, Pancreatic steatosis, Cryptorchidism, Exocrine pancreatic insufficiency, Cupped ea... OMIM:617052
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Gastroesophageal reflux, Bruxism, Macrotia, Hearing impairment ORPHA:48652
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Dystonia, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Spasticity, Protruding ear... OMIM:300966
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Precocious puberty, Cryptorchidism, Sensorineural hearing impairment, ... OMIM:194190
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Limb ataxia, Choreoathetosis, Appendicular hypotonia, Dystonia... OMIM:617595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability to walk, Babinski si... ORPHA:466768
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Diarrhea, Colitis, Vomiting, Anoperineal fi... OMIM:619381
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Polydipsia, Dysphagia ORPHA:99880
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Axial hypotonia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia OMIM:618249
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... OMIM:201475
Parathyroid Carcinoma
Shortened QT interval, Polydipsia, Dysphagia ORPHA:143
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Axial hypotonia, Tremor, Fasciculations, Limb hypertonia OMIM:620327
Spondyloenchondrodysplasia
Chorea, Spasticity ORPHA:1855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Intestinal malrotation, Impulsivity, Aggressive behavior, Cryptorchidism, Sensorin... ORPHA:353277
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia ORPHA:220497
Joubert Syndrome
Ataxia, Tremor, Gait disturbance, Low-set ears, Oculomotor apraxia ORPHA:475
Dubowitz Syndrome
Hyperactivity, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Chronic... OMIM:223370
Coffin-Siris Syndrome 1
Posteriorly rotated ears, Abnormal pinna morphology, Intestinal malrotation, Duodenal ulcer, Aggr... OMIM:135900
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Chronic diarrhea, EEG abnormality, Chronic constipation, High palate, Attention d... OMIM:619005
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Fucosidosis
Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:349
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea OMIM:618108
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Encopresis, Gastroesop... OMIM:616682
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Sensorineural hearing impair... OMIM:602782
Hyperoxaluria, Primary, Type I
Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Atrioventricular block, ... OMIM:259900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Low-set ears OMIM:617022
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Cleft soft palate, Intestinal malrotation, Celiac d... OMIM:301068
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Thickened helices, Cleft soft palate, Impulsivity, Precocious puberty, High, narr... OMIM:619950
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Posteriorly rotated ears, Tremor, Tip-toe gait, Attention deficit hypera... OMIM:617557
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Subcortical cerebral atrophy, Macrotia, Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Hearing impairment, Abnormal optic disc morphology, Abnorma... ORPHA:508498
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Cardiomy... ORPHA:465508
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cerebral atrophy, Low-set ears, Dystonia, Hearing impai... OMIM:230000
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Tremo... ORPHA:1934
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Prot... OMIM:300855
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly ORPHA:99931
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Diabetes mellitus, Hypergonadotropic hypo... OMIM:259050
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten... OMIM:256800
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Hypotonia, Spasticity, Spastic diplegia ORPHA:2715
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... ORPHA:177907
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hyperactivity, Posteriorly rotated ears, Ventricular septal defect, Pulmoni... OMIM:607721
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Mend Syndrome
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, High palate, Low-set ears, Overfolded helix OMIM:300960
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Cryptorchidism, Hydrocele testis, Microtia, High palate, Low-set ears, ... OMIM:619522
Scimitar Syndrome
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges... ORPHA:185
Multiple Endocrine Neoplasia Type 1
Anorexia, Shortened QT interval, Hematemesis, Cranial nerve compression, Melena, Hypertension ORPHA:652
Menkes Disease
Chorea, Hypertonia, Hypotonia, Spasticity ORPHA:565
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Leptospirosis
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Anorexia, Retinal h... ORPHA:509
Xeroderma Pigmentosum, Complementation Group A
Choreoathetosis, Spasticity, Ataxia, Distal sensory impairment OMIM:278700
Holoprosencephaly
Chorea, Hypotonia, Spasticity, Dystonia ORPHA:2162
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, High palate, Low-set e... OMIM:612474
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Ataxia-Telangiectasia
Ataxia, Tremor, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesi... OMIM:208900
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Posteriorly rotated ears, Protruding tongue, Cryptorchidism, Sensorineural hearing... OMIM:309580
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Delayed puberty OMIM:208060
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia, Small for gestational age OMIM:609152
Aicardi-Goutières Syndrome
Dystonia, Cardiomegaly, Raynaud phenomenon, Tremor, Hepatosplenomegaly, Degeneration of the stria... ORPHA:51
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morpholog... ORPHA:97297
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Mowat-Wilson Syndrome
Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Conductive hearing i... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se... ORPHA:642
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Patent foramen ovale, Mitral valve prolapse, Microtia, Low-s... OMIM:245600
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Tricuspid regurgitation, Cerebral atrophy, Cardiomegaly OMIM:620306
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation ORPHA:424
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Bowel incontinence, Cleft hard... ORPHA:261537
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m... OMIM:252500
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Hypoth... OMIM:619472
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... OMIM:619573
De Sanctis-Cacchione Syndrome
Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Spasticity OMIM:278800
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia OMIM:278730
Zygomycosis
Gastrointestinal hemorrhage, Diabetes mellitus, Gastritis, Hematemesis, Diarrhea, Peritonitis, En... ORPHA:73263
Oculopharyngodistal Myopathy 1
Ataxia, Tremor, Sensorineural hearing impairment, Difficulty walking, Dysphagia OMIM:164310
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Posterior helix pit, Enlarged... OMIM:130650
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Hypotonia, Dysphagia, Hypertonia, Generalized hypotonia, Dystonia OMIM:617248
Abetalipoproteinemia
Impaired vibratory sensation, Hepatomegaly, Ataxia, Impaired distal proprioception, Cardiomegaly,... ORPHA:14
Microphthalmia, Syndromic 1
Abnormal pinna morphology, Aganglionic megacolon, Aggressive behavior, High, narrow palate, Recta... OMIM:309800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Bowel incontinence, Cleft hard... ORPHA:261552
Primary Hyperoxaluria
Optic disc pallor, Heart block, Raynaud phenomenon, Arterial occlusion, Optic atrophy, Cardiomyop... ORPHA:416
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor, Weight loss ORPHA:99819
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul... ORPHA:51608
Brucellosis
Chorea, Anorexia ORPHA:1304
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cleft soft pal... OMIM:619503
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Recurrent otitis media, Arrhy... OMIM:256040
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Yunis-Varon Syndrome
Abnormal pinna morphology, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Renovasc... ORPHA:3472
Systemic Lupus Erythematosus
Chorea ORPHA:536
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom... ORPHA:805
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Cardiomegaly ORPHA:96191
Sickle Cell Disease
Splenomegaly, Hypertension, Cardiomegaly, Hepatomegaly OMIM:603903
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Beckwith-Wiedemann Syndrome
Otosclerosis, Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal earlobe morphology, Anterior cre... ORPHA:116
Proteus Syndrome
Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Low-set ears... ORPHA:744
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Liver Disease, Severe Congenital
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomeg... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Brain atrophy, Dystonia OMIM:618278
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Constipation, Aggressive behavior OMIM:309000
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... 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.

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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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