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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
Shuffling gait, Temperature instability, Dysdiadochokinesis, Ataxia OMIM:618049
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Gait disturbance, Cognitive impairment, Ataxia, Dysdiadochokinesis 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
Hyperthyroxinemia, Familial Dysalbuminemic
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... OMIM:615999
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Huntington Disease
Mental deterioration, Degeneration of the striatum, Oral-pharyngeal dysphagia, Difficulty walking... ORPHA:399
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Patent ductus arteriosus aft... OMIM:618782
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Young-Onset Parkinson Disease
Diarrhea, Depression, Gastroparesis, Frontal lobe dementia, Gait imbalance, Short attention span,... ORPHA:2828
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Dystonia 16
Postural tremor, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia, Dysphagia ORPHA:210571
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysphagia, Dysdiadochokinesis, Rigidity ORPHA:228169
Diaphragmatic Hernia 5, X-Linked
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
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Depression, Memory ... ORPHA:70595
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Severe temper tantrums, Bradykinesia OMIM:619052
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Intestinal pseudo-obstruction, Positive Romberg sign, Emotional lability, Weigh... OMIM:607459
Dystonia 12
Tremor, Parkinsonism, Torticollis, Bradykinesia, Dysphagia OMIM:128235
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Babi... OMIM:128230
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Pyknoachondrogenesis
Stillbirth OMIM:265880
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Gastroesophageal reflux, Broad nasal tip, Failure to thrive, Cerebral atrophy, Difficulty walking... OMIM:617393
Kleine-Levin Syndrome
Transient global amnesia, Depression, Polydipsia, Parosmia, Confusion, Abnormal eating behavior, ... ORPHA:33543
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Gait ataxia, Abnormal pyramidal sign, Tremor by anatomi... ORPHA:101110
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Bradykinesia, Lower limb spasticity OMIM:618878
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Dysphagia, Slurre... OMIM:618317
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Parkinsonism, Torticollis, Bradykinesia, Dysphagia ORPHA:71517
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Aggressive behavior, Parkinsoni... OMIM:607136
Juvenile Huntington Disease
Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Hyperactivity, Ataxia, Bradykinesia, Progr... ORPHA:248111
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Resting tremor, Gait ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal ... OMIM:617225
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Restrictive behavior, Inflexible adherence to routines, Truncal ataxia... OMIM:608636
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, B... OMIM:261640
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Bradykinesia, Dysphagia OMIM:619862
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen... ORPHA:100984
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Parkinsonism, Resting tremor, Rigidity OMIM:605909
Autism, Susceptibility To, 8
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sign, Hypertonia,... OMIM:617435
N-Acetylaspartate Deficiency
Broad-based gait, Short attention span, Self-mutilation, Decreased body weight, Truncal ataxia, U... OMIM:614063
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Gastroparesis, Gait ataxia, Hypergonadotropic hypogonadism, Impaired distal proprioce... OMIM:157640
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, At... OMIM:213600
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bradykinesia, Slurred ... OMIM:300423
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response... ORPHA:314632
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel... OMIM:603041
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, I... ORPHA:275864
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Babinski sign, Lower limb spasticity, Bradykinesia, Upper limb s... OMIM:618418
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic m... ORPHA:240085
Huntington Disease-Like 2
Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia OMIM:606438
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia... OMIM:615528
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Bradykinesia OMIM:618824
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Depression, Failure to thrive, Cerebellar atrophy, Goiter, Gastroparesis... ORPHA:254892
Prader-Willi Syndrome
Premature adrenarche, Xerostomia, Central adrenal insufficiency, Polyphagia, Precocious puberty, ... ORPHA:739
Leber Optic Atrophy And Dystonia
Spasticity, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Dysphagia OMIM:500001
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Rigidity, Motor tics, Compulsive behaviors, Bradykinesia, Spastic tetraplegia OMIM:615643
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Tremor, Ankle clonus, Babinski sign, Scissor gait, Parkinsonism, Bradykinesia ORPHA:521406
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... OMIM:615157
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Bradykinesia ORPHA:329284
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Attention deficit hyperactivity disorder, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia OMIM:617384
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Rigidity, Apraxia, Parkinsonism, Bradykinesia, Dysphagia OMIM:221820
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Bradykinesia, Resting tremor, Rigidity ORPHA:306692
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, ... ORPHA:101150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality of extrapyramidal ... ORPHA:13
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Recurrent hand flapping, Gait at... OMIM:617862
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Cerebral cortical atrophy, Akinesia, Lewy bodie... ORPHA:411602
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Encopresis, Emotional lability, Obsessive-com... ORPHA:66624
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Male hypogonadism, Resting tremor, Bruxism, Obesity, Tre... OMIM:300055
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Cerebral atrophy, Polymicrogyria, Inability to walk, Gastroparesis, Gait ataxia, Truncal ataxia, ... OMIM:618877
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Motor stereotypy, Frontotempora... OMIM:612069
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Feeding difficulties OMIM:617787
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Attention deficit hyperactivi... OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Huntington Disease-Like 1
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... ORPHA:157941
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Progressive gait ataxia, Parkinsonism, Apraxia, Weakness due ... ORPHA:97355
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Dystonia 16
Involuntary movements, Postural tremor, Retrocollis, Parkinsonism, Abnormal pyramidal sign, Brady... OMIM:612067
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism, Parapar... OMIM:606693
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Broad nasal tip, Inflexible adherence to routines, Failure to thrive in ... OMIM:613670
Xq28 (MECP2) duplication
Depressed nasal bridge, Gastroesophageal reflux, Depression, Failure to thrive, Inability to walk... DECIPHER:45
Huntington Disease
Chorea, Gait ataxia, Bradykinesia, Rigidity OMIM:143100
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Cerebellar Ataxia, Cayman Type
Gait ataxia, Ataxia, Truncal ataxia, Bradykinesia, Intention tremor OMIM:601238
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Irritability ORPHA:30925
Gerstmann-Straussler Disease
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive behavior, Parkinson... OMIM:137440
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Infantile Dystonia-Parkinsonism
Cerebral palsy, Chorea, Parkinsonism, Abnormal pyramidal sign, Limb hypertonia, Hypertonia, Brady... ORPHA:238455
Spinocerebellar Ataxia 10
Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyr... OMIM:603516
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Obsessi... OMIM:300623
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Chorea, Tremor, Rigidity, Disinhibition, Babinski sign, Parkinsonism, ... OMIM:606159
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Spinocerebellar Ataxia 2
Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor, Dysmetria, Ri... OMIM:183090
Mgat2-Cdg
Gastroesophageal reflux, Failure to thrive, Gastroparesis, Brain atrophy, Gastrostomy tube feedin... ORPHA:79329
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Inappropriate behavior, Bradykinesia ORPHA:412066
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Irritability, Impulsivity, Patent ductus arteriosus, Feedin... OMIM:619717
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Confusion, Emotional lability, Agitation, Lethargy, Reye s... ORPHA:927
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Tremor, Rigidity OMIM:617836
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Broad nasal tip, Failure to thrive, Cerebral atrophy, Nasogastric tube feeding, Stereotypical han... ORPHA:500545
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Foxg1 Syndrome
Gastroesophageal reflux, Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wring... ORPHA:561854
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Intrauterine growth retardation, H... OMIM:245400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Tremor, Rigidity, Limb hypertonia, Bradykinesia, Small for gestational age ORPHA:70594
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Pachygyria OMIM:606053
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Tremor, Hemiparesis ORPHA:306669
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia ORPHA:29822
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... OMIM:606324
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Chorea,... ORPHA:53351
Visceral Myopathy 2
Gastroesophageal reflux, Intestinal pseudo-obstruction, Gastroparesis, Esophagitis, Ineffective e... OMIM:619350
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Motor deterioration, Social and occupational deterioratio... ORPHA:168782
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, ... ORPHA:99750
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Babinski sign, Parkinsonism, Dysphagia, B... ORPHA:289560
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Obsessive-compulsive trait, Tremor, Ataxia, Bradykinesia, Poor fine motor coordin... ORPHA:36387
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Memory impairment, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST se... ORPHA:90065
Childhood-Onset Nemaline Myopathy
Neuromuscular dysphagia, Slender build, Clumsiness, Fatigable weakness of bulbar muscles, Bradyki... ORPHA:171439
Machado-Joseph Disease
Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigidity, Abnormality of ... OMIM:109150
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Ataxia, Truncal ataxia, Bra... OMIM:601338
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Obsessive-compulsive trait... ORPHA:33069
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Action tremor, Parkinsonism with favorable response to dopaminergic medication... ORPHA:254886
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movements, Parkinsonism, Abnormal pyram... OMIM:613135
Multiple System Atrophy, Cerebellar Type
Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Rigidity, Par... ORPHA:227510
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Manganese Poisoning
Postural tremor, Inappropriate laughter, Cogwheel rigidity, Abnormality of extrapyramidal motor f... ORPHA:306682
Perry Syndrome
Inappropriate behavior, Tremor, Rigidity, Disinhibition, Parkinsonism, Weight loss, Bradykinesia OMIM:168605
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Myoclonus, Clumsiness, Attention deficit hyperactivity disorder, Paraparesis, Lower l... OMIM:617854
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Prolonged QT inte... OMIM:610198
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Prominent nasal bridge, Gait ataxia, Aggressive behavior, Hyperactivity, Motor... OMIM:609425
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroesophageal reflux, Cerebellar atrophy, Failure to thrive, Gastroparesis, Constipation OMIM:610131
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Cachexia, Abdominal distention ORPHA:1876
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval OMIM:619040
Primary Erythromelalgia
Hypothermia ORPHA:90026
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Baker-Gordon Syndrome
Self-injurious behavior, Gastroesophageal reflux, Inability to walk, Short nose, Prominent nasal ... OMIM:618218
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Fasciculations, Chorea, Postural tremor, Dysmetria, Bradykinesia, ... ORPHA:98755
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy OMIM:619150
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Difficulty walking, Gastroparesis, Inability to walk, Constipation, Dysp... ORPHA:70
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Tremor, Par... ORPHA:240071
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Bradykinesia OMIM:300894
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Disinhibition, Aggressive b... OMIM:600795
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:102
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Wide nasal bridge, Failure to thrive, Gastroparesis, Anteverted nares, Ataxia, Small for gestatio... OMIM:614052
Coenzyme Q10 Deficiency, Primary, 5
Intrauterine growth retardation, Hypothermia OMIM:614654
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Feeding difficulties OMIM:617830
Christianson Syndrome
Cerebral cortical atrophy, Gastroesophageal reflux, Cerebellar atrophy, Abnormality of the nose, ... ORPHA:85278
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand wringing, Bradykinesia, Mo... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Depressio... OMIM:300260
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Adult-Onset Nemaline Myopathy
Bradykinesia, Neuromuscular dysphagia ORPHA:171442
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Abnormal pyramidal sign,... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bradykinesia OMIM:619911
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Cerebellar atrophy, Cerebral atrophy, Emotional lability, Loss of ambulation, Motor s... ORPHA:79264
Body Mass Index Quantitative Trait Locus 19
Anosmia, Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia, Hyposmia OMIM:617885
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Bulbous nose, L... OMIM:617695
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Babinski si... ORPHA:98808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Overweight, Motor ... OMIM:620065
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Depression, Cerebellar atrophy, Narcolepsy, Type II diabetes mellitus, Ataxia,... OMIM:604121
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Central Diabetes Insipidus
Lethargy, Depression, Polydipsia, Anorexia ORPHA:178029
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Ba... ORPHA:225147
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Br... ORPHA:98933
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Cerebral cortical atrophy, Self-injurious behavior, Motor stereotypy OMIM:617820
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Impaired pain sensation, Intestinal pseudo-obstruction, Under... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Wide nasal bridge, Broad nasal tip, Impaired pain sensation, Intestinal pseudo-obstruction, Under... ORPHA:352665
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Chops Syndrome
Gastroesophageal reflux, Gastroparesis, Anteverted nares, Obesity, Constipation, Patent ductus ar... OMIM:616368
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition OMIM:277320
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Confusion, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Gastroesophageal reflux, Failure to thrive, Short attention span, Nausea and vomiting... OMIM:620242
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Mungan Syndrome
Gastroparesis, Abdominal pain, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Meningococcal Meningitis
Hypothermia, Fever, Lethargy, Increased circulating procalcitonin concentration ORPHA:33475
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Primary Progressive Freezing Gait
Postural tremor, Restless legs, Rigidity, Babinski sign, Clonus, Dysphagia, Bradykinesia, Frequen... ORPHA:75567
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
N-Acetylglutamate Synthase Deficiency
Lethargy, Hypothermia, Reduced hepatic N-acetylglutamate synthase activity OMIM:237310
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Inability to walk,... OMIM:614254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Progressive Supranuclear Palsy
Blepharospasm, Tremor, Rigidity, Bradykinesia, Dysphagia, Impulsivity, Abnormal synaptic transmis... ORPHA:683
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy, Simplified gyral pattern OMIM:619470
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Superficial Siderosis
Anosmia, Partial anosmia, Vomiting, Memory impairment, Impaired pain sensation, Cerebellar atroph... ORPHA:247245
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Weight loss, Abdominal distention, Dysphagia ORPHA:85443
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:613280
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Immunodeficiency 77
Gastroparesis OMIM:619223
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Motor stereotypy OMIM:620033
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Spinocerebellar Ataxia Type 8
Spasticity, Limb ataxia, Gait ataxia, Rigidity, Ataxia, Bradykinesia, Spastic dysarthria, Dysphagia ORPHA:98760
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone ... OMIM:308700
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Gait ataxia, Rigidity, Babinski sign, Parkinsonism, Truncal ataxia, Bradykinesia, Dy... OMIM:258450
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Hyposmia OMIM:613724
Intellectual Developmental Disorder, Autosomal Dominant 52
Depressed nasal bridge, Prominent nose, Anteverted nares, Prominent nasal bridge, Obsessive-compu... OMIM:617796
Spinocerebellar Ataxia Type 13
Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysphagia, Torticollis, Bradykinesia, Titubation ORPHA:98768
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Failure to thrive in infancy, Bulbous nose, Inappropriate laughter, St... OMIM:614104
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Bradykines... ORPHA:171695
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Nathalie Syndrome
Abnormal EKG OMIM:255990
Neuroblastoma
Ataxia, Elevated circulating catecholamine level, Antalgic gait, Irritability, Weight loss, Abdom... ORPHA:635
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia ORPHA:168593
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Mental deterioration, Abnormal temper tantrums, Cerebellar vermis atrophy, Ob... ORPHA:163681
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotro... OMIM:308750
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Prominent nasal bridge, Recurrent hand flapping, Agitation, Aggressiv... OMIM:309548
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Chorea, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Hyperactivity, Hyper... OMIM:610217
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Gastroesophageal reflux, Bulbous nose, Chorea, Bruxism, Irritability, Con... OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Obsessiv... OMIM:618825
48,Xxyy Syndrome
Gastroesophageal reflux, Depression, Obesity, Type II diabetes mellitus, Feeding difficulties in ... ORPHA:10
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Gastroesophageal reflux, Short att... ORPHA:449291
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hyposmia OMIM:615266
Fraxe Intellectual Disability
Stereotypical body rocking, Prominent nasal bridge, Recurrent hand flapping, Agitation, Aggressiv... ORPHA:100973
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Inability ... OMIM:617672
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Chorea, Gait at... OMIM:618917
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Polymicrogyria OMIM:615282
Hypermanganesemia With Dystonia 2
Spasticity, Tremor, Ankle clonus, Opisthotonus, Babinski sign, Parkinsonism, Clumsiness, Scissor ... OMIM:617013
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge, Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Motor stereotypy OMIM:619690
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Progressive spastic paraplegia, Myoclonus, Babinski sign, Scissor gait, ... ORPHA:466722
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Low frustration to... ORPHA:168491
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Anteverted nares, Attention deficit hyperactivity disorder, Feeding difficulti... ORPHA:352490
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Delayed puberty, Hyposmia OMIM:615271
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Hypothermia, Abnormality of temperature regulation, Short stature, Unst... OMIM:618493
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Nausea and vomiting, Emotional... ORPHA:2495
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Gastroesophageal reflux, Cerebral atrophy, Inability to walk, Bruxism, Anteverted nares, Stereoty... OMIM:618497
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dissociated sensory loss, Gastroparesi... ORPHA:139417
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Bulbous nose, Overweight, Moto... ORPHA:280763
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Patent ductus arteriosus, Hyposmia OMIM:615996
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Bruxism, Anteverted nares, Short attention span, Decreased body weight, Aggres... OMIM:618342
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Chronic constipation OMIM:618906
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia, Dysphagia OMIM:168600
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia, Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal... OMIM:619755
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Nausea, Cons... ORPHA:100924
Menkes Disease
Short stature, Intrauterine growth retardation, Hypothermia OMIM:309400
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Depression, Cerebellar atrophy, Cerebral atrophy, Narcol... ORPHA:314404
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Chorea, Babinski sign, Parkinsonism, Bradyk... ORPHA:157846
Idiopathic Intracranial Hypertension
Vomiting, Depression, Abnormal emotion, Obesity, Focal sensory seizure with olfactory features, L... ORPHA:238624
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Inability to walk, Gait ataxia, Emotional lability, Short attention span, Rec... OMIM:619580
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Gastroesophageal reflux, Failure to thrive, Underdeveloped nasal alae, R... OMIM:300986
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Hypothyroidism, Ataxia, Compulsive behaviors, Bra... ORPHA:93256
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormality of the sense of smell OMIM:146110
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Gastroparesis, Dysphagia, Bowel incontinence ORPHA:90291
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypothermia ORPHA:159
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Depressed nasal bridge, Self-injurious behavior, Broad nasal tip, Anteverted ... OMIM:600430
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Decreased response to growth hormone stimulation test, Self-mutilation, Gait disturba... ORPHA:457240
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellit... OMIM:610628
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia involving the nose, Abnormalit... ORPHA:1135
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Aggressive behavior, Attention deficit ... OMIM:620292
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Intellectual Developmental Disorder, Autosomal Dominant 51
Wide nasal base, Wide nasal bridge, Fixated interests, Failure to thrive, Recurrent hand flapping... OMIM:617788
Shukla-Vernon Syndrome
Wide nasal base, Broad-based gait, Cerebellar atrophy, Aggressive behavior, Attention deficit hyp... OMIM:301029
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Rett Syndrome
Prolonged QTc interval, Motor deterioration, Abnormal T-wave OMIM:312750
Bardet-Biedl Syndrome 17
Anosmia, Polydipsia, Hypogonadism, Obesity, Cognitive impairment, Hyposmia OMIM:615994
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Clumsiness... ORPHA:199351
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Parkinsonism, Bradykinesia, Dysphagia OMIM:168601
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Abnormality of the sense of smell, Hypogonadotr... OMIM:616113
Smith-Magenis Syndrome
Pain insensitivity, Wide nasal bridge, Head-banging, Impaired pain sensation, Abnormality of the ... OMIM:182290
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Phonic tics, Spasticity, Obsessive-compulsive trait, Tremor, Rigidity, Abnormality... OMIM:234200
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Broad-based gait, Gastroesophageal reflux, Cerebral cortical atrophy, Bro... OMIM:617865
Parkinson Disease 20, Early-Onset
Involuntary movements, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia, Dysphagia OMIM:615530
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cerebral atrophy, Neurodegeneration, Chor... ORPHA:309246
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Dec... OMIM:614897
Radio-Tartaglia Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Gastroesophageal reflux, Bulbous n... OMIM:619312
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing horm... OMIM:616030
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc... OMIM:228300
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Feeding difficulties OMIM:616341
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... OMIM:170390
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Cerebellar vermis atro... OMIM:618347
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Self-biting, Ataxia, Long nose, Motor stereotypy, Short nose, Gastroesophageal reflux, S... OMIM:300912
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia, Lethargy, Reduced circulating aromatic L-amino... OMIM:608643
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Growth delay, Hypothermia OMIM:608800
Potocki-Lupski Syndrome
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Prominent nasal tip, Feedi... OMIM:610883
Occipital Horn Syndrome
Gastroesophageal reflux, Gastroparesis, Abnormal esophagus physiology, Esophagitis, Abnormality o... ORPHA:198
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Global brain atrophy, Polymic... ORPHA:500150
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Confusion, Prolonged QT interval, Dilated cardiomyopathy ORPHA:71212
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Confusion, Prolonged QT interval, Atrial fibrillati... ORPHA:31826
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Elevated circulating luteinizing hormone level, Decreased circulating follicle stim... OMIM:229070
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Portal hypertension, Hy... OMIM:251880
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Anteverted nares, Low frus... OMIM:619293
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased s... OMIM:614841
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Bulbous nose, Feeding difficulties, Obesity, Aggressive behavior, Constip... OMIM:618430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Congenital Enterovirus Infection
Hypothermia, Fever, Hepatic failure, Hepatitis ORPHA:292
White-Sutton Syndrome
Self-injurious behavior, Depressed nasal bridge, Gastroesophageal reflux, Broad nasal tip, Failur... OMIM:616364
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Anosmia, Painless fractures due to injury, Impaired temperature sensation, Pa... OMIM:243000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Prominent nose, Irritability, Aggressive behavior, Hyperactivity, Motor stereotypy ORPHA:391307
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Gastrostomy tube feeding in infancy, Ataxia, Motor stereotypy, Choreoa... OMIM:619317
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Gastroesophageal reflux, Self-inju... ORPHA:819
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Depression, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Emotional l... OMIM:614298
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Fever, Hypothermia, Lethargy, Ataxia, Ja... ORPHA:20
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia, Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteiniz... OMIM:614842
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gona... OMIM:618841
Nephronophthisis 9
Polydipsia OMIM:613824
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:618329
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Septo-Optic Dysplasia Spectrum
Anosmia, Polydipsia, Obesity, Constipation, Maternal diabetes, Anterior pituitary hypoplasia, Dia... ORPHA:3157
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Attention deficit hyperactivity disorder OMIM:300352
Coffin-Siris Syndrome 6
Depressed nasal bridge, Gastroesophageal reflux, Broad nasal tip, Attention deficit hyperactivity... OMIM:617808
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Niemann-Pick Disease Type C
Mental deterioration, Frontal cortical atrophy, Cognitive impairment, Ataxia, Dysphagia, Depressi... ORPHA:646
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG ORPHA:480864
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Depression, Broad nasal tip, Tip-toe gai... ORPHA:293939
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis ORPHA:231111
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Depressed nasal bridge, Cerebral cortical atrophy, Broad nasal tip, Inab... OMIM:618004
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Impaired tactile sensation, Ataxia, Motor stereotypy, Brain atrophy OMIM:619092
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ... ORPHA:228402
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Emotional lability, Polyphag... ORPHA:293987
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Hyposmia OMIM:612702
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased cir... OMIM:614839
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia, Ataxia OMIM:614879
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Inability to walk, Functional abnormality of the g... ORPHA:3095
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Wide nasal bridge, Depressed nasal bridge, Self-injurious behavior, Bulbous n... OMIM:617061
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Hypogonadotropic hypogonadism, Hyposmia OMIM:614838
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Broad nasal tip, Inability to walk, Bulbous nose, Anteverted nares, P... ORPHA:411986
Amyotrophic Lateral Sclerosis
Depression, Xerostomia, Amyotrophic lateral sclerosis, Neurodegeneration, Nausea and vomiting, Em... ORPHA:803
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Prominent nose, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Long nose... OMIM:300486
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Hypertrophic cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... OMIM:616878
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Abnormal EKG ORPHA:1177
Sepsis In Premature Infants
Temperature instability, Fever, Decreased liver function, Hypothermia, Jaundice ORPHA:90051
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Gastroesophageal reflux, Motor stereotypy, Short nose ORPHA:85277
Cri-Du-Chat Syndrome
Wide nasal bridge, Gastroesophageal reflux, Difficulty walking, Short attention span, Oppositiona... OMIM:123450
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Prominent nose, Motor stereotypy, Hyperactivity OMIM:615541
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nasal septum, Short nose OMIM:302950
Orthostatic Hypotension 1
Intermittent hypothermia, Reduced circulating prolactin concentration, Reduced circulating dopami... OMIM:223360
Amoebiasis Due To Free-Living Amoebae
Vomiting, Confusion, Irritability, Lethargy, Abnormality of the adrenal glands, Ataxia, Nausea, R... ORPHA:68
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Autism, Susceptibility To, 3
Increased serum serotonin, Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Cardiospondylocarpofacial Syndrome
Wide nasal bridge, Gastroesophageal reflux, Failure to thrive, Gastroparesis, Bulbous nose, Antev... OMIM:157800
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Attention deficit hyperactivity disorder, Pulmonary arterial hypertension OMIM:620029
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Inability to walk, Prominent nasal bridge, Motor stereotypy, Simplified gyral... OMIM:619877
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Pain insensitivity, Impaired vibratory sensation, Impaired temperature sensation, Gastrointestina... OMIM:616488
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Inability to walk, Anteverted nares, Short nose, Motor stereotypy, Feedin... OMIM:613443
Choreoacanthocytosis
Resting tremor, Hair-pulling, Parkinsonism, Weight loss, Bradykinesia, Dysphagia, Socially inappr... ORPHA:2388
Hijazi-Reis Syndrome
Gastroesophageal reflux, Chronic constipation, Gastrostomy tube feeding in infancy, Gait disturba... OMIM:301094
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Dilated cardiomyopathy ORPHA:66634
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cere... OMIM:617802
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hypogonadism, Anosmia, Absence of pubertal development OMIM:615267
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Brain-Lung-Thyroid Syndrome
Falls, Elevated circulating thyroid-stimulating hormone concentration, Abnormal eating behavior, ... ORPHA:209905
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Steppage gait, Positive Romberg sign, Distal sensory impairment OMIM:601152
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Ataxia, Spastic g... ORPHA:99027
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperact... ORPHA:313892
Kallmann Syndrome
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogo... ORPHA:478
Oromandibular Dystonia
Depression, Abnormality of the nose, Bruxism, Weight loss, Dysphagia ORPHA:93958
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Wide nasal bridge, Motor stereotypy, Attention deficit hyperactivity disorder, Encopresis OMIM:620502
Teratoma, Pineal
Polydipsia OMIM:273120
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Absence of pubertal development, Hypogonadotropic hypogonadism, Decreased circulating lu... OMIM:614837
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:17
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Confusion, ST segment d... ORPHA:466650
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Hypogonadism, Anosmia, Delayed puberty OMIM:615270
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypothermia OMIM:618775
Kufor-Rakeb Syndrome
Blepharospasm, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Letharg... ORPHA:306674
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Gastroesophageal reflux, Anosmia, Aplasia/Hypoplasia invo... ORPHA:2162
Coffin-Siris Syndrome 7
Depressed nasal bridge, Thick nasal alae, Anteverted nares, Constipation, Hyperactivity, Convex n... OMIM:618027
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Hyposmia OMIM:147950
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Anteverted nares, Prominent nasal bridge, Motor stereotypy, Feeding difficulties ... ORPHA:500159
Multiple System Atrophy 1, Susceptibility To
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Fever, Gait ataxia, Abnormality of Krebs cycle metabolism, Hypothermia, Ataxia ORPHA:255210
Alexander Disease
Precocious puberty, Hypothermia, Hypothyroidism, Gait disturbance, Ataxia, Diabetes mellitus ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperac... OMIM:617600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low frustration tolerance, Aggressive behavior, Ataxia, Unsteady gait, ... ORPHA:457279
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Failure to thrive, Malabsorption, Hypothyroidism,... ORPHA:213
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Gait imbalance, Short attention span, Abnormal eating b... ORPHA:98794
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Palpitations, Shortened PR interval, Prolonged QT interval,... ORPHA:79102
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Broad nasal tip, Hypogonadism, Aggressive behavior, Hyperactivity, Self-bitin... ORPHA:3306
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Hyposmia OMIM:244200
Combined Oxidative Phosphorylation Deficiency 12
Babinski sign, Bradykinesia, Failure to thrive, Spastic tetraparesis OMIM:614924
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Scissor gait, Attention deficit hyperactivity disorder, Spastic g... OMIM:619121
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Broad-based gait, Prominent nose, Attention deficit hyperactivity disorder, Un... OMIM:618205
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... OMIM:617044
5Q14.3 Microdeletion Syndrome
Anteverted nares, Frontal cortical atrophy, Short nose, Motor stereotypy, Feeding difficulties ORPHA:228384
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Failure to thrive, Hypogonadism, Bulbous nose ORPHA:2316
African Trypanosomiasis
Diarrhea, Vomiting, Somatic sensory dysfunction, Difficulty walking, Narcolepsy, Akinesia, Parest... ORPHA:3385
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Decreased response to growth hormone stimulation test, Central adrenal insuffi... ORPHA:488632
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Gitelman Syndrome
Prolonged QT interval, Hypotension, Palpitations, Ventricular tachycardia OMIM:263800
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Broad nasal tip, Hyperactivity, Ataxia, Motor stereotypy, Feeding diffi... ORPHA:530983
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Neurofibrillary tangles, Lewy bodies, Disinhibition... OMIM:607485
Refsum Disease, Classic
Anosmia, Somatic sensory dysfunction, Ataxia OMIM:266500
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Broad nasal tip, Motor stereotypy OMIM:615637
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Hypothermia, Lethargy, Ataxia, Jaundice, Growth delay ORPHA:79282
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:614858
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Gait ataxia, Chronic constipation, Gastrostomy tube feeding in infancy, Self-m... ORPHA:476126
Den Hoed-De Boer-Voisin Syndrome
Gastroesophageal reflux, Global brain atrophy, Inability to walk, Obesity, Short attention span, ... OMIM:619229
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Irritability, Aggre... OMIM:618321
Microphthalmia-Brain Atrophy Syndrome
Vomiting, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Tongue thrusting, Corpus callosum ... ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Hypera... OMIM:617751
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Hyperaldosteronism, Salt craving, Ataxia ORPHA:199343
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment ORPHA:98784
Familial Cold Urticaria
Polydipsia ORPHA:47045
Optic Atrophy 11
Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Constipation, Hy... OMIM:617302
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Nasogastric tube fee... ORPHA:208447
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:94093
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Postnatal growth retardation,... ORPHA:453533
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia ORPHA:230
Angelman Syndrome
Broad-based gait, Polyphagia, Ataxia, Dysphagia, Self-injurious behavior, Gastroesophageal reflux... ORPHA:72
Wiedemann-Steiner Syndrome
Wide nasal bridge, Gastroesophageal reflux, Failure to thrive, Decreased response to growth hormo... ORPHA:319182
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Irritability, Gastrostomy tub... ORPHA:447997
Bardet-Biedl Syndrome
Depressed nasal bridge, Inflammation of the large intestine, Depression, Hypogonadism, Obesity, P... ORPHA:110
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gastroesophageal reflux, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy... OMIM:616579
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Polymicrogyria, Inability to walk, Type II lissencephaly, Short attention span, Emotional labilit... ORPHA:300570
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, Motor stereotypy, Chronic constipation, Ataxia OMIM:619428
Late-Onset Familial Hypoaldosteronism
Fever, Postnatal growth retardation, Decreased circulating aldosterone level, Elevated serum 11-d... ORPHA:556037
Supranuclear Palsy, Progressive, 2
Postural tremor, Retrocollis, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia, Dysphagia OMIM:609454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Neurodegeneration, Emotional lability, Decreased body weight, Cognitive impairm... OMIM:619475
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Inappropriate laughter, Gait imbalance, Abnormal eating behavior, Recurrent han... ORPHA:411511
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Difficulty walking, Gait ataxia, Motor stereotypy, Feeding difficulties OMIM:617807
Bainbridge-Ropers Syndrome
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Vomiting, Gastroesophageal reflux,... OMIM:615485
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Bulbous nose, Narrow nose, Diminished ability to concentrate, Attention defici... OMIM:615656
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Anosmia OMIM:614880
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Chorea, Motor stereotypy, Aggressive behavior, Ataxia, Athetosis, Dysphagia, I... OMIM:619435
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Action tremor, Rigidity, Hypertonia, Truncal ataxia, Bradykinesia, Dysdiadoc... ORPHA:309854
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Ochoa Syndrome
Polydipsia ORPHA:2704
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Depressed nasal bridge, Cerebral cortical atrophy, Global brain atrophy,... ORPHA:457351
Phelan-Mcdermid Syndrome
Wide nasal bridge, Broad-based gait, Gastroesophageal reflux, Impaired pain sensation, Bulbous no... OMIM:606232
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypogonadotropic hypogonadism, Abnormal nostril morphology, Short nose ORPHA:1295
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Narrow nasal bridge, Attention def... OMIM:620073
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Emo... OMIM:219090
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Broad-based gait, Motor stereotypy OMIM:618067
Aural Atresia, Congenital
Hyposmia OMIM:607842
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Mo... ORPHA:261197
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Confusion ORPHA:79444
Refsum Disease
Anosmia, Ataxia ORPHA:773
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Depressed nasal bridge, Head-banging, Cerebellar atrophy, Focal polymicrogyria, Bulbous nose, Fre... OMIM:619103
Houge-Janssens Syndrome 3
Self-injurious behavior, Broad nasal tip, Attention deficit hyperactivity disorder, Motor stereot... OMIM:618354
Nmda Receptor Encephalitis
Vomiting, Diarrhea, Depression, Memory impairment, Neoplasm of the thymus, Confusion, Chorea, Sho... ORPHA:217253
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Self-injurious behavior, Bulbous nose, Compulsive behaviors, Low hanging colum... OMIM:613174
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Supranuclear Palsy, Progressive, 1
Retrocollis, Tremor, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia, Dysphagia OMIM:601104
Intellectual Developmental Disorder, Autosomal Dominant 54
Gastroesophageal reflux, Cerebellar atrophy, Inability to walk, Bruxism, Chronic constipation, Ir... OMIM:617799
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Decreased response to growth hormone stimulation test, Midnasal stenosi... OMIM:147250
22Q11.2 Duplication Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, Attention deficit hyperactivity disorder... ORPHA:1727
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Confusion, Hypertension ORPHA:79443
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Musk, Inability To Smell
Anosmia OMIM:254150
White-Sutton Syndrome
Self-injurious behavior, Depressed nasal bridge, Cerebral cortical atrophy, Gastroesophageal refl... ORPHA:468678
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, Anteverted nares, Chr... OMIM:619005
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Prominent nose, Anteverted nares, Attention deficit hyperactivity disorde... ORPHA:435638
Prader-Willi Syndrome Due To Translocation
Feeding difficulties in infancy, Anterior pituitary hypoplasia, Motor stereotypy, Patent ductus a... ORPHA:177907
Rauch-Steindl Syndrome
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Exocrine pancreatic insufficiency, ... OMIM:619695
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Cerebellar vermis atrophy, Anteverted nares, Limb atax... OMIM:617101
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
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Hematochezia, Depressed nasal bridge, Head-banging, Failure to thrive, F... OMIM:619575
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Nephronophthisis 4
Polydipsia OMIM:606966
Narcolepsy 7
Narcolepsy, Obesity, Type II diabetes mellitus OMIM:614250
Moebius Syndrome
Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Dysphagia, Abnormality of the sen... ORPHA:570
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Depressed nasal ridge, Gastroesophageal reflux, Short nose, Bulbous nose... OMIM:156200
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Pediatric-Onset Graves Disease
Polydipsia, Emotional lability, Increased circulating free T3, Irritability, Polyphagia, Hyperact... ORPHA:525731
Alazami Syndrome
Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy, Wide nose ORPHA:319671
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Vomiting, Gastroesophageal reflux, Small for gestational age, Failure ... ORPHA:464311
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Anteverted nares OMIM:616351
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Gastroesophageal reflux, Broad nasal tip, Cerebral atrophy, Polymicrogyri... OMIM:619777
Menkes Disease
Prolonged neonatal jaundice, Intrauterine growth retardation, Hypothermia ORPHA:565
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Wide nasal bridge, Self-injurious behavior, Failure to thrive, Bulbous nose, Depressed nasal tip,... OMIM:620494
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Helsmoortel-Van Der Aa Syndrome
Polyphagia, Motor stereotypy, Dysphagia, Short nose, Gastroesophageal reflux, Broad nasal tip, De... OMIM:615873
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Failure to thrive, Cerebral atrophy, Inappropriate laughter, Gastrostomy ... OMIM:615802
4Q21 Microdeletion Syndrome
Self-injurious behavior, Depressed nasal bridge, Motor stereotypy ORPHA:238750
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Hypogonadism, Hypogonadotropic hypogonadism, Patent ductus arter... ORPHA:251066
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Obesity, Feeding difficulties, Motor stereotypy, Hyposmia OMIM:618653
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Cerebral atrophy, Ileus, Distal sensory impairment, Ataxia OMIM:609136
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Gastroesophageal reflux, Bulbous nose, Short nose, Motor stereotypy, Feed... ORPHA:261144
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Dysphagia, Ataxia, Dementia, Motor stereotypy OMIM:607625
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Broad columella, Underdeveloped nasal alae, Anteverted nares, Obesity, At... ORPHA:1001
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Kleefstra Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Gastroesophageal reflux, Anteverted nares, Ob... ORPHA:261494
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Vomiting, Gastroesophageal reflux, Short nose, Chorea, Self-mutilation, Prominent nasal tip, Repe... ORPHA:522077
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Prolonged QT interval, Cardiomyopathy ORPHA:373
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Fever, Hypothermia, Lethargy, Jaundice ORPHA:99826
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Prominent nasal bridge, Self-mutilation, Stereotypical hand wringing, Aggressi... OMIM:212066
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Chronic constipation, Motor stereotypy, Ataxia, Dy... ORPHA:496641
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Comp... ORPHA:488618
Kleefstra Syndrome 1
Gastroesophageal reflux, Anteverted nares, Obesity, Aggressive behavior, Compulsive behaviors, Mo... OMIM:610253
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Wilson Disease
Hepatic failure, Vomiting, Dementia, Acute hepatic failure, Hypoparathyroidism, Abdominal distent... OMIM:277900
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Broad-based gait, Gastroesophageal reflux, Failure to thrive, Anteverted ... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Depressed nasal bridge, Cerebral atrophy, Bruxism, Hair-pulling, Aggress... OMIM:616393
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Motor stereotypy, Dysphagia ORPHA:572013
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Athetosis, Polydipsia ORPHA:369929
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia ORPHA:1772
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Broad-based gait, Increased circulating prolactin concentration, Inability to... ORPHA:438213
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Wide nasal bridge, Broad-based gait, Broad nasal tip, Self-injurious behavior... OMIM:620330
Dyrk1A-Related Intellectual Disability Syndrome
Cerebral cortical atrophy, Vomiting, Gastroesophageal reflux, Small for gestational age, Failure ... ORPHA:464306
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Broad nasal tip, Obesity, Abnormal columella morphology, Dysmetria, Chro... ORPHA:96121
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353281
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Attention deficit hyperactivity disorder, Hypertension, Myocardial infarction ORPHA:99226
Developmental And Epileptic Encephalopathy 2
Gastroesophageal reflux, Inability to walk, Anteverted nares, Constipation, Motor stereotypy OMIM:300672
Gorlin Syndrome
Wide nasal bridge, Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:377
Charge Syndrome
Choanal atresia, Anosmia, Gastroesophageal reflux, Depressed nasal bridge, Anterior hypopituitari... ORPHA:138
Pitt-Hopkins Syndrome
Flared nostrils, Wide nasal bridge, Self-injurious behavior, Gastroesophageal reflux, Gait ataxia... OMIM:610954
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Nephronophthisis 1
Polydipsia OMIM:256100
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Hypothyroidism, Motor stereotypy, Ataxia ORPHA:2479
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hyperaldosteronism, Salt craving, Ataxia, Dysdiadochokinesis OMIM:612780
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Failure to thrive, Anteverted nares, Frequent temper tantrums, Recurrent hand ... OMIM:617062
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge, Self-injurious behavior, Motor stereotypy ORPHA:397612
Sarcoidosis
Hepatic failure, Fever, Decreased liver function, Portal hypertension, Hypothermia, Abnormality o... ORPHA:797
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Flared nostrils, Cerebral cortical atrophy, Broad-based gait, Gastroesophageal reflux, Hippocampa... OMIM:614756
Whipple Disease
Anorexia, Depression, Polydipsia, Ataxia ORPHA:3452
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis OMIM:244400
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Hypogonadotropic hypogonadism, Delayed puberty, Total anosmia ORPHA:2326
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Gastroesophageal reflux, Broad nasal tip, Cerebellar atroph... OMIM:617330
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Recurrent fever, Difficulty walking, Hypothermia, Growth delay ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Depressed nasal bridge, Obesity, Short attention span, Chronic constipation, ... OMIM:301066
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level OMIM:610600
Kinsship Syndrome
Gastroesophageal reflux, Failure to thrive, Bulbous nose, Bruxism, Chronic constipation, Low hang... OMIM:619297
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Temperature instability, Dysdiadochokinesis, Ataxia OMIM:618049
Ogden Syndrome
Wide nasal bridge, Flared nostrils, Bifid nasal tip, Vomiting, Diarrhea, Depressed nasal bridge, ... OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Wide nasal bridge, Self-injurious behavior, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria,... ORPHA:468631
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Gastroesophageal reflux, Cerebral atrophy, Anteverted nares, Constipation... OMIM:301040
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Depression, Gastroesophageal reflux, Abnormal circu... ORPHA:534
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... ORPHA:892
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Cerebellar atrophy, Cerebral atrophy, Hypogonadotropic hypogonadism, Atte... OMIM:301030
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Hyposmia, Hypogonadism, Absent nares, Single naris ORPHA:2250
Nephronophthisis 11
Polydipsia OMIM:613550
Mucopolysaccharidosis Type 2
Wide nasal bridge, Mental deterioration, Recurrent upper respiratory tract infections, Abnormal t... ORPHA:580
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Gastroesophageal reflux, Bulbous nose, Encopresis, Loss of ambulation, Consti... OMIM:616682
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level ORPHA:556030
Nephronophthisis 3
Polydipsia OMIM:604387
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353277
Hydroxykynureninuria
Motor stereotypy, Stomatitis ORPHA:79155
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Failure to thrive, Bulbous nose, Frequent temper tantrums, Narrow nasal ... OMIM:619512
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
1P36 Deletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Gastroesophageal reflux, Self-i... ORPHA:1606
Senior-Boichis Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation ORPHA:84081
Panhypophysitis
Decreased serum estradiol, Polydipsia, Decreased serum testosterone concentration, Decreased circ... ORPHA:95513
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Leopard Syndrome 1
Depressed nasal ridge, Delayed menarche, Hypoplasia of the ovary, Delayed puberty, Hyposmia OMIM:151100
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Norrie Disease
Self-injurious behavior, Cerebral cortical atrophy, Failure to thrive, Narrow nasal bridge, Irrit... ORPHA:649
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Renal Hypoplasia
Polydipsia ORPHA:93101
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Helix Syndrome
Polydipsia OMIM:617671
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Confusion, Short attention span, Hematemesis, Melena, Hypertension ORPHA:652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Inability to walk, Bulbous nose, Anteverted nares, Long nose, Motor stere... ORPHA:508533
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Wolfram Syndrome
Dementia, Polydipsia, Ataxia ORPHA:3463
Charge Syndrome
Anosmia, Choanal atresia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased res... OMIM:214800
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Infantile Nephropathic Cystinosis
Polydipsia, Cognitive impairment ORPHA:411629
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Hypogonadotropic hypogonadism, Aplasia of the nose, Anosmia OMIM:603457
Coffin-Siris Syndrome 12
Depressed nasal bridge, Gastroesophageal reflux, Failure to thrive, Underdeveloped nasal alae, Hi... OMIM:619325
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia, Xerostomia, Dysphagia, Patent ductus arteriosus ORPHA:2363
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Self-injurious behavior, Broad nasal tip, Neurodegener... OMIM:259050
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
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, D... ORPHA:90793
Arboleda-Tham Syndrome
Bifid nasal tip, Gastroesophageal reflux, Broad nasal tip, Gait imbalance, Prominent nasal bridge... OMIM:616268
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Erdheim-Chester Disease
Xanthelasma, Polydipsia, Ataxia ORPHA:35687
Waardenburg Syndrome, Type 4C
Hypogonadism, Anosmia OMIM:613266
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Oligomeganephronia
Polydipsia ORPHA:2260
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Broad nasal tip, Cerebral atrophy, Bulbous nose, Hyperactivity, Motor ste... OMIM:309590
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Polydipsia, Increased serum testosterone level, Fas... ORPHA:769
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Abnormal EKG ORPHA:268
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Motor stereotypy, Feeding difficulties, Wide nasal bridge ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Depressed nasal bridge, Failure to thrive, Bulbous nose, Prominent nose,... OMIM:612474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... ORPHA:95699
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Gastroesophageal reflux, Narrow nose, Anteverted nares, Motor stereotypy, Short ... OMIM:301044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Wide nasal bridge, Broad nasal tip, Bulbous nose, Anteverted nares, Motor stereotypy, Attention d... OMIM:619522
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Gait disturbance, Cognitive impairment, Ataxia, Dysdiadochokinesis ORPHA:352649
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Precocious puberty, Gastroesophageal reflux, Failure to thrive, Convex nasal r... OMIM:194190
Mowat-Wilson Syndrome
Broad-based gait, Decreased body weight, Prominent nasal tip, Ataxia, Motor stereotypy, Patent du... ORPHA:2152
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Cystinosis, Nephropathic
Progressive neurologic deterioration, Polydipsia, Dysphagia OMIM:219800
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Wide nasal bridge, Broad-based gait, Impaired pain sensation, Failure to thrive, Polymicrogyria, ... ORPHA:261537
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased serum testos... ORPHA:90796
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Constipation, Motor stereotypy, Failure to thrive OMIM:309000
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cognitive impairment ORPHA:731
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Wide nasal bridge, Broad-based gait, Impaired pain sensation, Failure to thrive, Polymicrogyria, ... ORPHA:261552
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Patent ductus arteriosus, Abnormal EKG ORPHA:648
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Hypomagnesemia 3, Renal
Polydipsia, Elevated circulating parathyroid hormone level OMIM:248250
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy 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

Order Mouse and ES Cells

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

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

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