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Gene: Slc18a2 MGI:106677

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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:
solute carrier family 18 (vesicular monoamine), member 2
Synonyms:
1110037L13Rik,  Vmat2

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 Slc18a2 mutations

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

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

The table below shows human diseases associated to Slc18a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Ataxia, Shuffling gait, Temperature instability OMIM:618049
Brain Dopamine-Serotonin Vesicular Transport Disease
Ataxia, Dysdiadochokinesis, Gait disturbance, Shuffling gait, Cognitive impairment ORPHA:352649

The table below shows human diseases predicted to be associated to Slc18a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass ind... ORPHA:399
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Young-Onset Parkinson Disease
Short attention span, Restless legs, Gastroparesis, Impulsivity, Diarrhea, Depression, Frontal lo... ORPHA:2828
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Dysphagia ORPHA:210571
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia ORPHA:228169
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Retr... OMIM:612067
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Gastroparesis, Intestinal pseudo-obstruction, Impaired distal propr... ORPHA:70595
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Bradykin... ORPHA:240103
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Impaired distal proprioception, Dysmetria, Gait ataxia, Progressiv... OMIM:607459
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dysphagia OMIM:128235
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Pyknoachondrogenesis
Stillbirth OMIM:265880
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Broad nasal tip, Cerebral atrophy, Feeding difficulties, Irritability, Gastroesophageal reflux, D... OMIM:617393
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... OMIM:616710
Kleine-Levin Syndrome
Confusion, Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexualit... ORPHA:33543
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia, D... OMIM:618317
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... ORPHA:98793
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te... ORPHA:177901
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Dysphagia ORPHA:71517
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:607136
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cere... ORPHA:248111
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300425
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Increased serum serotonin, Truncal ataxia, Abnormal repetiti... OMIM:608636
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:600116
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bruxism, Ankle clonus, Bradykinesia, Hypertonia, Agitation, Dysp... OMIM:617435
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Limb myoclonus OMIM:619862
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:209850
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:605909
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gastroparesis, Hypergonadotropic hypogonadism, Impaired distal proprioception, Impaired distal vi... OMIM:157640
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Parkinsonism with favo... ORPHA:314632
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... OMIM:614063
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Parkinsonism with favorable response to ... ORPHA:240085
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Hyperthyroidism, Gastroparesis, Ataxia, Diabetes mellitus, Gait ataxia, Depre... ORPHA:254892
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Impaired temperature sensation, Nasogastri... ORPHA:739
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Spasticity, L... OMIM:615528
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dysphagia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Compulsive behaviors, Spastic paraparesis, Motor tics OMIM:615643
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Babinski sign, ... OMIM:615157
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Spasticity ORPHA:521406
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Hypoesthesia, Diarrhea, G... OMIM:603041
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Irritabili... ORPHA:66624
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... ORPHA:60041
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Apraxia, Spasticity OMIM:221820
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorder, Limb hypertonia OMIM:617384
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Resting tremor, Bradykinesia, Parkinsonism ORPHA:306692
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Akinesia, Impulsivity, Depression, Weight loss, Chronic constipation, Bradykinesia, ... ORPHA:411602
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Pick Disease Of Brain
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... OMIM:172700
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hype... ORPHA:13
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence, Inability to walk, Cerebral atrophy, Gait ataxia, Choreoatheto... OMIM:618877
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob... OMIM:300055
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... OMIM:612069
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Dysphagia, Gait ataxia, Atrophy/Degeneration affecting the ... OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding difficulties OMIM:617787
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... OMIM:618052
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Spinocerebellar Ataxia 10
Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Brad... OMIM:603516
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, Babinski s... OMIM:606693
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Feeding difficulties in infancy, Aggressive behavi... OMIM:613670
Xq28 (MECP2) duplication
Depressed nasal bridge, Feeding difficulties in infancy, Inability to walk, Gait ataxia, Depressi... DECIPHER:45
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Corticobasal Syndrome
Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apraxia, Brad... ORPHA:454887
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Brady... OMIM:137440
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Irritability ORPHA:30925
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Mgat2-Cdg
Gastroparesis, Abnormality of the endocrine system, Low hanging columella, Patent ductus arterios... ORPHA:79329
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi... OMIM:300623
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Increased circulating androgen con... ORPHA:228346
Intellectual Developmental Disorder, Autosomal Recessive 73
Impulsivity, Patent ductus arteriosus, Feeding difficulties, Gait ataxia, Irritability, Recurrent... OMIM:619717
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Broad nasal tip, Feeding difficulties in infancy, Cerebral atrophy, Irritability, Failure to thri... ORPHA:500545
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hemiparesis, Bradykinesia, Truncal ata... OMIM:601338
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vo... ORPHA:927
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Bradykinesia, Ataxia, Rigidity OMIM:617836
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevated circulating ... OMIM:245400
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Foxg1 Syndrome
Inability to walk, Bruxism, Feeding difficulties, Choreoathetosis, Constipation, Gastroesophageal... ORPHA:561854
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Parkinsonism, Bradykinesia ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Limb hypertonia ORPHA:70594
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Gait disturbance ORPHA:29822
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab... OMIM:606324
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal pseudo-obstruction, ... OMIM:619350
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Hand tremor, Blepharospasm,... ORPHA:53351
Childhood-Onset Nemaline Myopathy
Fatigable weakness of bulbar muscles, Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fin... ORPHA:171439
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Childhood Disintegrative Disorder
Bowel incontinence, Social and occupational deterioration, Dementia, Abnormal emotion, Progressiv... ORPHA:168782
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Spastic paraparesis,... ORPHA:289560
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Dysphagia, Limb ata... OMIM:109150
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Progressive neurologic deterioration, Cerebral hemorrhage, Congestive hear... ORPHA:90065
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... ORPHA:36387
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkinsonism with favorable response to dopam... ORPHA:254886
Dravet Syndrome
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... ORPHA:33069
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition OMIM:168605
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
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
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia, Abnormal pyrami... ORPHA:227510
Timothy Syndrome
Prolonged QT interval, Patent ductus arteriosus, Ventricular tachycardia, Atrioventricular block,... OMIM:601005
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:98755
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
Manganese Poisoning
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, Hypertonia... ORPHA:306682
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Clumsiness, Bradykines... OMIM:617854
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Gastroparesis, Constipation, Gastroesophageal reflux, Failure to thrive OMIM:610131
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Prominent nasal bridge, Aggressive behavior, Gait ataxi... OMIM:609425
Rett Syndrome
Limb apraxia, Bradykinesia, Agitation, Increased serum leptin, Failure to thrive, Abnormal repeti... ORPHA:778
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... ORPHA:226313
Primary Erythromelalgia
Hypothermia ORPHA:90026
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Myofibrillar Myopathy 10
Prolonged QTc interval, Increased QRS voltage OMIM:619040
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Neuromuscular dysphagia ORPHA:171442
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Baker-Gordon Syndrome
Ataxia, Inability to walk, Feeding difficulties, Choreoathetosis, Self-injurious behavior, Gastro... OMIM:618218
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Marchiafava-Bignami Disease
Ataxia, Confusion, Aggressive behavior, Gait ataxia, Depression, Dementia, Addictive alcohol use,... ORPHA:221074
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dysph... ORPHA:683
Proximal Spinal Muscular Atrophy
Gastroparesis, Inability to walk, Constipation, Gastroesophageal reflux, Difficulty walking, Dysp... ORPHA:70
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharospas... ORPHA:240071
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Anteverted nares, Gastroparesis, Ataxia, Wide nasal bridge, Failure to... OMIM:614052
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Gait disturba... OMIM:600795
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Ina... OMIM:300260
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:102
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypothermia OMIM:614654
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Cerebellar atrophy, Ataxia, Narcolepsy, Depression, Dementia, Type II diabetes mellitus, Memory i... OMIM:604121
Christianson Syndrome
Cerebellar atrophy, Cachexia, Abnormality of the nose, Feeding difficulties in infancy, Dysphagia... ORPHA:85278
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia, Polyphagia OMIM:617885
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradyki... ORPHA:98808
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... OMIM:620065
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Feeding difficulties OMIM:617830
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia OMIM:619911
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Bulbous nose, Limb ataxia, Dysphagia, Self-injurious... OMIM:617695
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dysphagia, Depression, Cerebral atrophy, Dementia, Progressive language deter... ORPHA:79264
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Dysph... ORPHA:225147
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Impaired pain sensation, Feeding difficulties in in... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Impaired pain sensation, Feeding difficulties in in... ORPHA:352665
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br... ORPHA:98933
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia, Depression ORPHA:178029
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr... ORPHA:412066
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:300495
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Chops Syndrome
Anteverted nares, Gastroparesis, Patent ductus arteriosus, Obesity, Constipation, Gastroesophagea... OMIM:616368
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Nausea and vomiting, Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depress... OMIM:620242
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Mungan Syndrome
Intestinal pseudo-obstruction, Abdominal pain, Gastroparesis, Hypoperistalsis OMIM:611376
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Prolonged QT interval, Confusion, Ventricular arrhythmia ORPHA:36913
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... ORPHA:75567
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypothermia, Pituitary hypothyroidism, Growth delay,... ORPHA:90674
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... ORPHA:240094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Feeding difficulties, Self-injur... OMIM:614254
Superficial Siderosis
Cerebellar atrophy, Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensat... ORPHA:247245
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Simplified gyral pattern, Abnormal repetiti... OMIM:619470
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Anteverted nares, Depressed nasal bridge, Prominent nos... OMIM:617796
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Weight loss, Dysphagia ORPHA:85443
Immunodeficiency 77
Gastroparesis OMIM:619223
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... OMIM:308700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Hyposmia, Hypergonadotropic hypogonadism OMIM:613724
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Rigidity, Babinski sign, Dysphagia, Gait ataxia, Limb ataxia, Bradykinesia, Truncal... OMIM:258450
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... OMIM:613280
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dysphagi... ORPHA:171695
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atr... OMIM:617820
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Abnormal repetitive mannerisms OMIM:620033
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Dysphagia, Spasticity ORPHA:98760
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Babinski sign, Abnormal pyramidal sign, Cogwheel... ORPHA:97349
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Gait ataxia, Clumsiness, Titubation, Bradykinesia, Myoclonus, Dysphagia ORPHA:98768
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiado... OMIM:610217
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Cerebellar vermis atrophy, Obesit... ORPHA:163681
Nathalie Syndrome
Abnormal EKG OMIM:255990
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... OMIM:309548
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Feeding difficult... OMIM:614104
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Feeding ... OMIM:618825
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... OMIM:308750
Fraxe Intellectual Disability
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... ORPHA:100973
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Abn... ORPHA:449291
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Dysphagia, Feeding difficulties, Cerebral ... OMIM:617672
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Feeding difficulties in infancy, Obesity, Depression, Con... ORPHA:10
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Wide nasal bridge, Cerebral atrophy, Self-injurious behavior, Abnormal repeti... OMIM:619690
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hypermanganesemia With Dystonia 2
Parkinsonism, Tremor, Babinski sign, Scissor gait, Clumsiness, Opisthotonus, Ankle clonus, Bradyk... OMIM:617013
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Anteverted nares, Small for gestational age, Feeding difficulties in infancy, Repe... ORPHA:352490
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Abnormal repetitive mannerisms OMIM:615282
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Chorea, Bulbous nose, Tongue thrusting, Simplified gyral pattern, Feeding... OMIM:613454
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... ORPHA:168491
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:168600
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... OMIM:618917
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Short stature, Hypothermia, Inability to walk, Unst... OMIM:618493
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Anteverted nares, Inability to walk, Cerebral atrophy, Feeding difficulties, Choreoathetosis, Gas... OMIM:618497
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr... OMIM:612953
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperacti... OMIM:618906
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Overweight, Bulbous nose, Difficulty walking, Abnormal repetit... ORPHA:280763
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced be... ORPHA:100924
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Gastroparesis, Dysesthesia, Dissociate... ORPHA:139417
Bardet-Biedl Syndrome 19
Hyposmia, Patent ductus arteriosus, Hypogonadism, Obesity OMIM:615996
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Anteverted nares, Aggressive behavior, Wide nasal bridge, Br... OMIM:618342
Menkes Disease
Intrauterine growth retardation, Short stature, Hypothermia OMIM:309400
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Idiopathic Intracranial Hypertension
Obesity, Depression, Focal sensory seizure with olfactory features, Vomiting, Abnormal emotion, L... ORPHA:238624
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Ataxia, Narcolepsy, Cerebral atrophy, Depression, Atrophy/Degeneration affect... ORPHA:314404
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to ... OMIM:619580
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Compulsive behaviors, Dysph... ORPHA:93256
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Diabetes mellitus, Broad nasal tip, Overweight, Repetitive compulsive behav... ORPHA:391372
Meningococcal Meningitis
Fever, Lethargy, Hypothermia ORPHA:33475
Systemic Sclerosis
Gastroparesis, Bowel incontinence, Intestinal bleeding, Gastroesophageal reflux, Dysphagia ORPHA:90291
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Lethargy, Hepatic failure, Hypothermia ORPHA:159
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Wide nose, Anteverted nares, Depressed nasal bridge, Hyperactivity, Broad nas... OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Underdeveloped nasal alae, Aggressive behavior, Feeding difficulties, Chronic constipatio... OMIM:300986
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormality of the sense of smell OMIM:146110
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Overweight, Depression, Gait disturbance, ... ORPHA:457240
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Anosmia, Obesity, Absence of pubertal developme... OMIM:610628
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dysphagia OMIM:168601
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Confusion, Dilated cardiomyopathy, Hepatic necrosis, Hypertrophic cardiomy... ORPHA:71212
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Feeding difficulties, Gastro... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 51
Aggressive behavior, Chronic diarrhea, Wide nasal bridge, Feeding difficulties, Chronic constipat... OMIM:617788
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Abnormal repet... OMIM:618718
Rett Syndrome
Abnormal T-wave, Motor deterioration, Prolonged QTc interval OMIM:312750
Bardet-Biedl Syndrome 17
Anosmia, Obesity, Hypogonadism, Cognitive impairment, Hyposmia, Polydipsia OMIM:615994
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... ORPHA:31826
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Abnormality of the thyroid gland, Self hugging, Wide nasa... OMIM:182290
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Ataxia, Anterior pituitary hypoplasia, Central hypothyroidism, Abn... OMIM:616113
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulat... OMIM:614897
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Depressed nasal bridge, Unsteady gait, Pica, Tongue thru... OMIM:617865
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal py... OMIM:234200
Radio-Tartaglia Syndrome
Ataxia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Precocious puberty, Agg... OMIM:619312
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia OMIM:615530
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropriate behavior, Neurodegenerati... ORPHA:309246
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Portal hypertension, Hypothermia, Jaundice, Growth delay, Hepatic ... OMIM:251880
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Anosmia, Decreased circulati... OMIM:616030
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Anteverted nares, Decreased response to growth hormone stimulation test, Abno... OMIM:618347
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,... OMIM:170390
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Intellectual Developmental Disorder, X-Linked 98
Long nose, Self-biting, Gastroesophageal reflux, Abnormal repetitive mannerisms, Hyperactivity, A... OMIM:300912
Occipital Horn Syndrome
Gastroparesis, Abnormality of the sense of smell, Gastroesophageal reflux, Esophagitis, Dysphagia... ORPHA:198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Patent ductus arterio... OMIM:619293
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating gonadotropin concentration, Hypopla... OMIM:614841
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infa... OMIM:610883
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Congenital Enterovirus Infection
Fever, Hepatic failure, Hepatitis, Hypothermia ORPHA:292
White-Sutton Syndrome
Waddling gait, Hyperactivity, Depressed nasal bridge, Broad nasal tip, Aggressive behavior, Abnor... OMIM:616364
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Failure to thrive in infancy, Depressed nasal bridge, Feeding difficulties in infa... ORPHA:500150
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Depressed nasal bridge, Ataxia, Aggressive behavior, Bulbous nose, Obesity, Feedin... OMIM:618430
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Painless fr... OMIM:243000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Prominent nose, Irritability, Abnormal repetitive mannerisms ORPHA:391307
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hy... OMIM:607485
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia OMIM:608800
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Impulsivity, Loss of ambulati... OMIM:614298
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hypothermia, Decreased l... OMIM:618329
Smith-Magenis Syndrome
Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Impaired pain sensation, ... ORPHA:819
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Restlessness, Neurofibrillary tangles, Frontotemporal dem... ORPHA:100070
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Fever, Ataxia, Hypothermia, Jaundice, Lethargy ORPHA:20
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Hypoplasia of the ovary, Decreas... OMIM:618841
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms, Gastrostomy t... OMIM:619317
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Ataxia, Confusion, Irritability, Abnormality of the adrenal gl... ORPHA:68
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Anosmia, Obesity, Constipation, Polydipsia, Abn... ORPHA:3157
Coffin-Siris Syndrome 6
Depressed nasal bridge, Broad nasal tip, Constipation, Gastroesophageal reflux, Attention deficit... OMIM:617808
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Chorea, Progressive gait ataxia, Low frustration tolerance,... ORPHA:646
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Attention deficit hyperactivity disorder OMIM:300352
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Overweight, Pica, Wide nasal bridge, Constipation, Recurrent hand flapping OMIM:615032
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval ORPHA:231111
Developmental And Epileptic Encephalopathy 64
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Inability to walk, Chorea, Self-injuri... OMIM:618004
Distal Xq28 Microduplication Syndrome
Epistaxis, Impulsivity, Broad nasal tip, Aggressive behavior, Patent ductus arteriosus, Recurrent... ORPHA:293939
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Small pituitary gland, Delayed puberty, Hyposmia OMIM:612702
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Gait ataxia, Impaired tactile sensation, Brain atrophy, Abnormal repetitive mannerisms OMIM:619092
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Constipation, Abnormal repetitive man... ORPHA:228402
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadotropic hypogonadism, Bifid nose OMIM:614838
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614839
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Prominent nasal bridge, Broad nasal tip, Inability to walk, Bulbous nose, Occip... ORPHA:411986
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... ORPHA:97292
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Prominent nose, Long nose, Gait ataxia, Low frustration tolerance, Abnormal repeti... OMIM:300486
Isolated Follicle Stimulating Hormone Deficiency
Hypogonadotropic hypogonadism, Female hypogonadism, Delayed menarche, Gonadotropin deficiency, An... ORPHA:52901
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Prominent nose OMIM:615541
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Amyotrophic Lateral Sclerosis
Nausea and vomiting, Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression,... ORPHA:803
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Short nose, Gastroesophageal reflux, Cerebral cortical atrophy ORPHA:85277
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Patent ductus arte... OMIM:617061
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Choreoathetosis, Athetosis, Irritabi... OMIM:608643
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Feeding diff... OMIM:123450
Gorlin Syndrome
Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Cardiospondylocarpofacial Syndrome
Anteverted nares, Gastroparesis, Bulbous nose, Wide nasal bridge, Feeding difficulties, Hypoplast... OMIM:157800
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Pulmonary arterial hypertension, Attention deficit hyperactivity disorder OMIM:620029
Dentici-Novelli Neurodevelopmental Syndrome
Prominent nasal bridge, Precocious puberty, Inability to walk, Simplified gyral pattern, Abnormal... OMIM:619877
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Abnormal repetitive mannerisms, Increased... OMIM:608049
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Inability to walk, Feeding difficulties, Short nose, Ab... OMIM:613443
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cognitive impairment, Cardiomyopathy ORPHA:1177
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Inability to walk, Tongue thrusting, Functional ab... ORPHA:3095
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hypogonadism, Absence of pubertal development OMIM:615267
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Depressed nasal bridge, Inability to walk, Cerebral atrophy, Dysphagia, Short... OMIM:617802
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Temperature in... ORPHA:99027
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, G... OMIM:616488
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Steppage gait, Positive Romberg sign, Distal sensory impairment OMIM:601152
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, An... ORPHA:478
Hijazi-Reis Syndrome
Chronic constipation, Gastroesophageal reflux, Gait disturbance, Abnormal repetitive mannerisms, ... OMIM:301094
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Absence of pubertal development, Decreased circulating lu... OMIM:614837
Oromandibular Dystonia
Abnormality of the nose, Dysphagia, Depression, Weight loss, Bruxism ORPHA:93958
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypothermia... ORPHA:17
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Hypogonadism, Delayed puberty OMIM:615270
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Failure to thrive in infancy, Choanal a... ORPHA:2162
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary m... ORPHA:2388
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Confusion, ST segment depression, Hypotension, Abnormal... ORPHA:466650
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux, Atte... ORPHA:313892
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypothermia OMIM:618775
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Elevated circulating thyro... ORPHA:209905
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Anosmia, Delayed puberty, Hyposmia OMIM:147950
Teratoma, Pineal
Polydipsia OMIM:273120
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Failure to thrive, Spastic tetraparesis OMIM:614924
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Coffin-Siris Syndrome 7
Wide nose, Hyperactivity, Anteverted nares, Depressed nasal bridge, Severe temper tantrums, Feedi... OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Alexander Disease
Diabetes mellitus, Ataxia, Hypothermia, Precocious puberty, Gait disturbance, Hypothyroidism ORPHA:58
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Chronic diarrhea, Low frustration tolerance, Abnormal... ORPHA:457279
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Pat... ORPHA:500159
African Trypanosomiasis
Somatic sensory dysfunction, Akinesia, Aggressive behavior, Abnormality of the endocrine system, ... ORPHA:3385
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Johnson Neuroectodermal Syndrome
Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive ORPHA:2316
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadotropic hypogonadism OMIM:244200
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Abnormality of Krebs cycle metabolism, Gait ataxia, Hepatic failure ORPHA:255210
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Broad nasal tip, Precocious puberty, Aggressive behavior, Self-biting, Feeding dif... ORPHA:3306
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
5Q14.3 Microdeletion Syndrome
Anteverted nares, Feeding difficulties, Frontal cortical atrophy, Abnormal repetitive mannerisms,... ORPHA:228384
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Inability to... ORPHA:488632
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hypothermia, Jaundice, Growth delay, Intrauterine growth retardation, Lethargy ORPHA:79282
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Broad nasal tip, Feeding difficulties, Abnormal temper tantrums, Abnormal ... ORPHA:530983
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... OMIM:617044
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Anosmia OMIM:266500
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Vomiting, Gait disturbance, Delay... ORPHA:213
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Attention deficit hyper... OMIM:619121
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Gait ataxia... ORPHA:476126
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:614858
Snijders Blok-Campeau Syndrome
Broad-based gait, Prominent nose, Unsteady gait, Wide nasal bridge, Feeding difficulties, Attenti... OMIM:618205
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Postnatal growth retardatio... ORPHA:453533
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Broad nasal tip OMIM:615637
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Aggressive behavior, Diarrhea, Chorea, Cerebral atrophy, Gait ataxia, Irritability, Vomit... OMIM:618321
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Vomiting, Atrophy/Degenerati... ORPHA:77299
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Cognitive impairment, D... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Patent ... OMIM:617751
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm... ORPHA:319182
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Dysphagia, Stereotypical ha... OMIM:619229
East Syndrome
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Difficulty walking, Polydipsia ORPHA:199343
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Fever, Hypothermia, Elevated circulating alkaline phosphatase conc... ORPHA:94093
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux... ORPHA:208447
Angelman Syndrome
Gastroesophageal reflux, Vomiting, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Constipation... ORPHA:72
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Feeding difficulties in infancy, Inability to walk, Simplif... ORPHA:300570
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Feeding difficulties, Gait ataxia, Gastroesophageal reflux, Brain atroph... OMIM:616579
Optic Atrophy 11
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Constipati... OMIM:617302
Familial Cold Urticaria
Polydipsia ORPHA:47045
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Gastroesoph... ORPHA:447997
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Prec... OMIM:615485
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Chronic constipation, Abnormal repetitive mannerisms, Ataxia, Cerebral cortical atrophy OMIM:619428
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Retrocollis, Dysphagia OMIM:609454
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Vomiting, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyper... OMIM:619475
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Feeding difficulti... ORPHA:411511
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Bulbous nose, Feeding difficulties, Diminished ability to concentrate, Attention deficit ... OMIM:615656
Late-Onset Familial Hypoaldosteronism
Fever, Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11... ORPHA:556037
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Feeding difficulties, Gait ataxia, Difficulty walking, Abnormal repetitive mann... OMIM:617807
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Small pituitary gland OMIM:614880
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Wide nasal bridge, Athetosis, Dysphagia, Abnorm... OMIM:619435
Methanol Poisoning
Hyperlipidemia, Addictive alcohol use, Confusion ORPHA:31825
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Confusion ORPHA:79444
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Inability to walk, Self-injurious b... ORPHA:457351
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Abnormal repetitive mannerisms, B... OMIM:606232
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose ORPHA:1295
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Aural Atresia, Congenital
Hyposmia OMIM:607842
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Depressed nasal bridge, Focal polymicrogyria, Bulbous nose, Head-banging, Att... OMIM:619103
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Precocious puberty, Wide nasal bridge, Feeding diffi... OMIM:620073
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Staphylococcal Necrotizing Pneumonia
Lethargy, Addictive alcohol use, Confusion, Increased circulating procalcitonin concentration ORPHA:36238
Refsum Disease
Anosmia, Ataxia ORPHA:773
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration OMIM:223360
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Confusion ORPHA:79443
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms, Wide nasal bridge OMIM:618067
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Bulbous nose, Wide nasal bridge, Self-injurious behavior, Compulsive b... OMIM:613174
Nmda Receptor Encephalitis
Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Diarrhea, Chorea, Depres... ORPHA:217253
Ochoa Syndrome
Polydipsia ORPHA:2704
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Attention deficit hypera... ORPHA:261197
Houge-Janssens Syndrome 3
Broad nasal tip, Feeding difficulties, Self-injurious behavior, Attention deficit hyperactivity d... OMIM:618354
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Dysphagia OMIM:601104
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Small for gestational age, Ataxia, Poor appetite, Aggressive behavior, Inabil... OMIM:617799
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Musk, Inability To Smell
Anosmia OMIM:254150
22Q11.2 Duplication Syndrome
Wide nose, Depressed nasal ridge, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:1727
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Ataxia, Prominent nose, Patent ductus arteriosus, Atten... ORPHA:435638
Rauch-Steindl Syndrome
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Wide nasal bridge, Feeding difficulti... OMIM:619695
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, Chr... OMIM:619005
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Depressed nasal bridge, Broad nasal tip, Feeding difficulties ... ORPHA:468678
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Anteverted nares, Limb ataxia, Self-injurious behavior, Truncal ataxia, Promine... OMIM:617101
Wilson Disease
Acute hepatic failure, Hypoparathyroidism, Hypoesthesia, Abdominal distention, Dementia, Vomiting... OMIM:277900
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Moebius Syndrome
Feeding difficulties in infancy, Abnormality of the sense of smell, Hypogonadotropic hypogonadism... ORPHA:570
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Depressed nasal bridge, Overweight, Head-banging, Feeding difficulties, Hem... OMIM:619575
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus, Obesity OMIM:614250
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Ataxia, Prominent nose, Aggressive behavior, Bulbous nose, Depressed nasal ... OMIM:156200
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Alazami Syndrome
Wide nose, Abnormal eating behavior, Abnormal repetitive mannerisms, Self-mutilation, Stereotypic... ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Broad-based gait, Anteverted nares, Bruxism OMIM:616351
Nephronophthisis 4
Polydipsia OMIM:606966
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Prominent nasal bridge, Patent ductus arteriosus, Abnormality of neuro... ORPHA:464311
Menkes Disease
Intrauterine growth retardation, Hypothermia, Prolonged neonatal jaundice ORPHA:565
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Broad nasal tip, Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, ... OMIM:619777
Pediatric-Onset Graves Disease
Hyperactivity, Increased circulating free T3, Emotional lability, Irritability, Increased circula... ORPHA:525731
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
8P11.2 Deletion Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Patent ductus arteriosus, Anosmia, Feeding... ORPHA:251066
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Depressed nasal bridge ORPHA:238750
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Feeding difficulties, Gastroesophageal reflux, Short nose, ... ORPHA:261144
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Episodic vomiting, Pineal cyst, Gastroesop... OMIM:615873
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Feeding difficulties, Difficulty walking, Hyposmia, Abnormal repetitive mannerisms OMIM:618653
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Optic Atrophy-Intellectual Disability Syndrome
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:401777
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles, Dementia, Dysphagia, Abnormal repetitive mannerisms OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Cerebral atrophy, Feeding difficulties, Inappropriate laughter, Failure t... OMIM:615802
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Ileus, Anosmia, Cerebral atrophy, Distal sensory impairment OMIM:609136
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Attention deficit h... ORPHA:1001
Kleefstra Syndrome
Anteverted nares, Bowel incontinence, Aggressive behavior, Self-mutilation, Obesity, Self-injurio... ORPHA:261494
8Q21.11 Microdeletion Syndrome
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell ORPHA:284160
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Feeding difficulties, Choreoathetosis, Self-bitin... ORPHA:522077
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cardiomyopathy ORPHA:373
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Congenital Disorder Of Glycosylation, Type Iia
Prominent nasal bridge, Aggressive behavior, Self-mutilation, Unsteady gait, Failure to thrive, A... OMIM:212066
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Fever, Hypothermia, Jaundice, Lethargy ORPHA:99826
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Transketolase Deficiency
Patent ductus arteriosus, Self-injurious behavior, Compulsive behaviors, Attention deficit hypera... ORPHA:488618
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:369929
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Bowel incontinence, Feeding difficulties, Chronic constipation, Dysph... ORPHA:496641
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Anteverted nares, Depressed nasal bridge, Feeding difficulties in infancy, Repe... ORPHA:513456
Kleefstra Syndrome 1
Anteverted nares, Aggressive behavior, Obesity, Gastroesophageal reflux, Compulsive behaviors, Ab... OMIM:610253
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 38
Depressed nasal bridge, Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurio... OMIM:616393
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval ORPHA:86309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Short stature, Hypothermia, Abnormality of the endocrine system, Precocious pub... ORPHA:438213
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Anteverted nares, Pachygyria, Wide nasal bridge, Simplified gyral pattern, Feeding diffic... OMIM:617062
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Broad nasal tip, Aggressive behavior, Patent ductus arteriosus, Uns... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Prominent nasal tip, Nail-biting, Pain insensitivity, Broad-based gait, Broad nasal tip, Aggressi... OMIM:620330
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Anterior pituitary hypoplasia, Narrow nasal tip, Promin... ORPHA:464306
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Patent ductus ar... ORPHA:353281
Developmental And Epileptic Encephalopathy 2
Anteverted nares, Inability to walk, Constipation, Gastroesophageal reflux, Abnormal repetitive m... OMIM:300672
Nephronophthisis 3
Polydipsia OMIM:604387
Charge Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Feeding difficulties in i... ORPHA:138
Pitt-Hopkins Syndrome
Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Constipation, Gastroeso... OMIM:610954
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction, Attention deficit hyperactivity disorder ORPHA:99226
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Abnormal repetitive mannerisms, Ataxia, Wide nasal bridge ORPHA:2479
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Wide nasal bridge ORPHA:397612
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Anteverted nares, Prominent nas... OMIM:617330
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Uns... OMIM:614756
Sarcoidosis
Fever, Hyperthyroidism, Diabetes insipidus, Portal hypertension, Hypothermia, Abnormality of the ... ORPHA:797
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Hypogonadotropic hypogonadism, Partial anosmia, Delayed puberty ORPHA:2326
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Polydipsia OMIM:612780
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Nephronophthisis 1
Polydipsia OMIM:256100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Isolated Osteopoikilosis
Addictive alcohol use ORPHA:166119
Whipple Disease
Polydipsia, Ataxia, Anorexia, Depression ORPHA:3452
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Growth delay, Difficulty walking, Unexplained fevers, Recurrent fever ORPHA:642
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Depressed nasal bridge, Aggressive behavior, Precocious puberty, Obesity, C... OMIM:301066
Parkinsonism-Dystonia 2, Infantile-Onset
Dysdiadochokinesis, Ataxia, Shuffling gait, Temperature instability OMIM:618049
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level OMIM:610600
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Kinsship Syndrome
Bulbous nose, Chronic constipation, Gastroesophageal reflux, Brain atrophy, Bruxism, Failure to t... OMIM:619297
Ogden Syndrome
Depressed nasal bridge, Maternal diabetes, Underdeveloped nasal alae, Bifid nasal tip, Diarrhea, ... OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Prominent nasal bridge, Periventricular heterotopia, Wide nasal bridge, Cereb... ORPHA:468631
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Anteverted nares, Depressed nasal bridge, Abnormal repetitive mannerisms, Cerebral atrophy, Const... OMIM:301040
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Depressed nasal bridge, Impulsivity, Cerebral ... OMIM:301030
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Absent nares, Hypogonadism, Hyposmia ORPHA:2250
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Depression,... ORPHA:534
Nephronophthisis 11
Polydipsia OMIM:613550
Mucopolysaccharidosis Type 2
Short attention span, Wide nose, Hyperactivity, Progressive neurologic deterioration, Aggressive ... ORPHA:580
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Encopresis, Unsteady gait, Bulbous nose, Patent ductus arteriosus, Feeding di... OMIM:616682
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tub... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tub... ORPHA:353277
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level ORPHA:556030
Hydroxykynureninuria
Stomatitis, Abnormal repetitive mannerisms ORPHA:79155
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia ORPHA:520
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Narrow nasal ridge, Bulbous nose, Feeding difficulties, Self-injurious behavior, C... OMIM:619512
1P36 Deletion Syndrome
Depressed nasal bridge, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Patent d... ORPHA:1606
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Narcolepsy 3
Narcolepsy OMIM:609039
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Narcolepsy 1
Narcolepsy OMIM:161400
Norrie Disease
Narrow nasal bridge, Diabetes mellitus, Cachexia, Irritability, Self-injurious behavior, Attentio... ORPHA:649
Leopard Syndrome 1
Depressed nasal ridge, Hypoplasia of the ovary, Delayed puberty, Hyposmia, Delayed menarche OMIM:151100
Panhypophysitis
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, De... ORPHA:95513
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... ORPHA:805
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Multiple Endocrine Neoplasia Type 1
Short attention span, Confusion, Hematemesis, Shortened QT interval, Melena, Hypertension ORPHA:652
Renal Hypoplasia
Polydipsia ORPHA:93101
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Anteverted nares, Long nose, Inability to walk, Bulbous nose, Short nose,... ORPHA:508533
Helix Syndrome
Polydipsia OMIM:617671
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Cardiac Diverticulum
Abnormal EKG, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Patent ductus arteri... ORPHA:1686
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Hypogonadotropic hypogonadism, Aplasia of the nose, Choanal atresia OMIM:603457
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Coffin-Siris Syndrome 12
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Abno... OMIM:619325
Wolfram Syndrome
Polydipsia, Dementia, Ataxia ORPHA:3463
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Patent ductus arteriosus, Anosmia, Xerostomia, Dysphagia ORPHA:2363
Primrose Syndrome
Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Anteverted nares, Depres... OMIM:259050
Infantile Nephropathic Cystinosis
Polydipsia, Cognitive impairment ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval ORPHA:143
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Elevated circul... ORPHA:90793
Arboleda-Tham Syndrome
Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Patent ductus arteriosus, Feeding diffi... OMIM:616268
Waardenburg Syndrome, Type 4C
Anosmia, Hypogonadism OMIM:613266
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Patent ... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Depressed nasal bridge, Small for gestational age, Broad nasal tip, Bulbous nose, ... OMIM:309590
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Erdheim-Chester Disease
Xanthelasma, Polydipsia, Ataxia ORPHA:35687
Oligomeganephronia
Polydipsia ORPHA:2260
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hyperinsulinemia, Polydipsia, Increased circulating a... ORPHA:769
Porphyria Cutanea Tarda
Addictive alcohol use ORPHA:101330
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Feeding difficulties, Abnormal repetitive mannerisms, Wide nasal bridge, Exocrine pancreatic insu... ORPHA:508498
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, P... OMIM:612474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Decreased circulating cortisol level, Increased ... ORPHA:95699
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Gastroesophageal reflux, Short nose, Abnormal repetitive manne... OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Anteverted nares, Broad nasal tip, Long nose, Bulbous nose, Patent ductus arteriosus, Wide nasal ... OMIM:619522
Brain Dopamine-Serotonin Vesicular Transport Disease
Ataxia, Dysdiadochokinesis, Gait disturbance, Shuffling gait, Cognitive impairment ORPHA:352649
Wolf-Hirschhorn Syndrome
Small for gestational age, Precocious puberty, Wide nasal bridge, Gastroesophageal reflux, Failur... OMIM:194190
Mowat-Wilson Syndrome
Gastrointestinal dysmotility, Vomiting, Abnormal repetitive mannerisms, Broad columella, Ataxia, ... ORPHA:2152
Cystinosis, Nephropathic
Polydipsia, Progressive neurologic deterioration, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Abnormal circulating corticosterone level, Decrea... ORPHA:90796
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Bowel incontinence, Impaired pain sensation, Periventricular heterotopia, Inabi... ORPHA:261537
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Failure to thrive, Constipation, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Bowel incontinence, Impaired pain sensation, Periventricular heterotopia, Inabi... ORPHA:261552
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cognitive impairment ORPHA:731
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992

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 Slc18a2

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 Slc18a2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
VMAT2 Safeguards β-Cells Against Dopamine Cytotoxicity Under High-Fat Diet-Induced Stress. Diabetes (August 2020) Slc18a2tm1a(EUCOMM)Wtsi Slc18a2tm1c(EUCOMM)Wtsi PMC7576560

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MGI Allele Allele Type Produced
Slc18a2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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