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Gene: Foxp2 MGI:2148705

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Gene Summary

Name:
forkhead box P2
Synonyms:
D0Kist7,  2810043D05Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased body weight Foxp2tm2.1Woen HET Early adult 2.18×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Foxp2 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 Foxp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
7Q31 Microdeletion Syndrome
Low-set ears, Short palpebral fissure, Childhood onset sensorineural hearing impairment, Enlarged... ORPHA:251061
Speech-Language Disorder 1
Oromotor apraxia OMIM:602081
Isolated Childhood Apraxia Of Speech
Overfolded helix, Horizontal eyebrow ORPHA:209908

The table below shows human diseases predicted to be associated to Foxp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysmetria, Action tremo... ORPHA:98762
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Scis... ORPHA:521406
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:616410
Cerebellar Ataxia, Cayman Type
Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Truncal ataxia, Bradyki... OMIM:601238
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Gait ataxia... OMIM:617225
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... OMIM:618824
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia... ORPHA:248111
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Br... OMIM:300423
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Bradykinesia OMIM:143100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyr... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Spinocerebellar Ataxia 17
Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Positive Ro... OMIM:607136
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia ORPHA:329284
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spinocerebellar Ataxia Type 31
Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Tremor ORPHA:217012
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia OMIM:611694
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dystonia, Abnorm... OMIM:617435
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Growth delay, Ankle clonus, Rigidity, Babinski sign,... ORPHA:100984
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb fasciculations, Lim... OMIM:615157
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia, Short st... OMIM:619052
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Huntington Disease-Like 1
Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ... ORPHA:157941
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abn... OMIM:603516
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:240103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia ORPHA:210571
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia OMIM:618683
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Paresthesia, Cogwheel rigidity, Action tremor, Distal sensory impairment, Par... ORPHA:254886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
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
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar ... ORPHA:98760
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, Cerebellar atroph... ORPHA:98755
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:300894
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasticity, Bradykinesia, Up... OMIM:618418
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Huntington Disease-Like 2
Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia OMIM:606438
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Clumsiness, Babinski sign, ... ORPHA:284332
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Impaired distal vibration sensation, Postural tremor, Gait at... OMIM:300623
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dyston... OMIM:617013
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Dystonia 23
Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Torticollis, Writer's cramp OMIM:614860
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... ORPHA:70594
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia OMIM:128235
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, Short stature, ... ORPHA:98768
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Short stature, Intention tremor OMIM:608029
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... OMIM:261640
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Caribbean Parkinsonism
Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia, Parkinsonism, Apraxia, Wea... ORPHA:97355
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Myoclonus, Pontocerebellar atrophy, Dystonia, Clumsiness, Paraparesis, Lower limb spa... OMIM:617854
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Tachypnea,... OMIM:620085
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:616710
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Bradykinesia, Resting tremor, Rigidity ORPHA:306692
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Oculogyric crisis, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Bradykinesia OMIM:617384
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Rigidity, Dystonia, Babinski... OMIM:258450
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Abnorma... ORPHA:157846
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:240085
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Confusion, Leukopenia, Respiratory distress, Leukocytosis, Tachypnea, Addicti... ORPHA:36238
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Bradykinesia, Rigidity, Oromandibular dystonia, Dystonia, Spastic tetraplegia OMIM:615643
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Holocarboxylase Synthetase Deficiency
Respiratory distress, Anorexia, Hyperammonemia, Irritability, Tachypnea, Weight loss, Thrombocyto... ORPHA:79242
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Leber Optic Atrophy And Dystonia
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Dystonia, Athetosis OMIM:500001
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria OMIM:617770
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Somatic sensory dysfunction, Rigidity, Apraxia, Parkinsonism, Bradykinesia OMIM:221820
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Nathalie Syndrome
Abnormal EKG OMIM:255990
Huntington Disease
Involuntary movements, Decreased body mass index, Chorea, Myoclonus, Rigidity, Dystonia, Babinski... ORPHA:399
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Obesity, Tremor, Dystonia, Babinski sign... OMIM:300055
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abnormality... ORPHA:13
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Confusion, Hyperammonemia, Hyperglutamatemia, Aggressive... OMIM:237310
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus OMIM:604213
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Distal sensory impairment, Babinski ... OMIM:606693
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Abnormal neuron morphology, Bradykinesia ORPHA:412066
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Abnormal EKG, Cognitive impairment, Progressive cerebellar ataxia ORPHA:1177
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Episodic tachypnea, Apnea, Emotional lability, Motor stereotypy, Cognitive impairment... ORPHA:79264
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Arm dystonia, Episodic ataxia, Incoordination, Gait ataxia, Dysmetria, Hemiparesis, Dystonia, Ata... OMIM:601338
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Atypical Rett Syndrome
Restrictive behavior, Pill-rolling tremor, Impaired pain sensation, Episodic tachypnea, Inappropr... ORPHA:3095
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Chorea, Gait ataxia, Intention tremor, Dysmetria, Dystonia, Babin... OMIM:610217
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Loss of ambulation, Atrial arrhythmia, First... OMIM:310300
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Spinocerebellar Ataxia 4
Limb dysmetria, Cerebellar atrophy, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnormal pyram... ORPHA:391411
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Dystonia, Clumsiness, Parkinsonism, Bradykinesia OMIM:619911
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... ORPHA:99750
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... OMIM:618877
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Dravet Syndrome
Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressive gait ataxia, P... ORPHA:33069
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Br... ORPHA:289560
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism... ORPHA:227510
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Tetanus
Respiratory distress, Tremor, Elevated circulating creatine kinase concentration, Opisthotonus, T... ORPHA:3299
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... OMIM:600116
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Propionic Acidemia
Failure to thrive, Cardiomyopathy, Pancytopenia, Apnea, Hyperglycinemia, Hyperammonemia, Cerebell... OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia OMIM:619063
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Autosomal Dominant Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Impaired vibration sensation in the lower limbs, Gait atax... ORPHA:98808
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Resp... ORPHA:26793
Serotonin Syndrome
Mental deterioration, Hypotension, Confusion, Tremor, Irritability, Tachypnea, Delirium, Tachycar... ORPHA:43116
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen... ORPHA:264675
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Beta-Ketothiolase Deficiency
Ataxia, Hypotension, Anorexia, Leukocytosis, Hyperammonemia, Oral aversion, Hyperuricemia, Tachyp... ORPHA:134
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Failure to thrive, Elevated circulating propionylcarnitine concentration, Inguinal hernia, Hypome... OMIM:614857
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Multiple System Atrophy 1, Susceptibility To
Olivopontocerebellar atrophy, Rigidity, Tremor, Babinski sign, Parkinsonism, Ataxia, Bradykinesia OMIM:146500
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Dysesthesia, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Ataxia, ... ORPHA:93256
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Ataxia, Truncal ataxia OMIM:614229
Acute Lung Injury
Diffuse alveolar hemorrhage, Shock, Respiratory distress, Addictive alcohol use, Tachypnea, Eleva... ORPHA:178320
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... ORPHA:240071
Perry Syndrome
Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss, Bradykinesia OMIM:168605
Citrullinemia Type I
Failure to thrive, Hyperammonemia, Tachypnea, Torticollis, Ataxia, Elevated plasma citrulline ORPHA:247525
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... OMIM:615160
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... ORPHA:101070
Recurrent Respiratory Papillomatosis
Failure to thrive, Respiratory distress, Tachypnea, Syncope, Choking episodes, Dysphagia ORPHA:60032
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Elevated circulating parathyroid hormone level, Splenomegaly, Tach... OMIM:239200
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Childhood-Onset Nemaline Myopathy
Clumsiness, Bradykinesia, Slender build ORPHA:171439
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
High Altitude Pulmonary Edema
Tachycardia, Tachypnea, Leukocytosis, Anorexia ORPHA:330012
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Tachypnea OMIM:616414
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Paresthesia, Cogwheel rigidity, Rigidit... ORPHA:97349
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Pyruvate Dehydrogenase Deficiency
Tremor, Multiple lipomas, Tachypnea, Ataxia, Dystonia, Choreoathetosis ORPHA:765
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Confusion, Hypocalcemia, Episodic respiratory distr... ORPHA:31826
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypoalbuminemia, Hypotension, Fasciitis, Shock, Confusion, Respiratory distress, Elev... ORPHA:36234
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Failure to thrive, Abnormal circulating creatin... OMIM:615838
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:616531
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Dystonia, Babinski sign, Scissor ... ORPHA:466722
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased r... OMIM:610978
Manganese Poisoning
Postural tremor, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dystonia, Hyper... ORPHA:306682
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Cognitive impairment, Ataxia, ST segment elevation ORPHA:94125
Avian Influenza
Hypoalbuminemia, Congestive heart failure, Respiratory distress, Lymphopenia, Leukopenia, Elevate... ORPHA:454836
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Hyperglycinemia, Tachy... OMIM:614299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Cogwheel rigidity, Gait ataxia, Tremor, Ri... ORPHA:254892
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea, Ataxia OMIM:611560
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Anorexia, Recurrent han... ORPHA:3008
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Confusion, Hyperbilirubinemia, Elevated ... ORPHA:542323
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... OMIM:615960
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating ferritin concentration, Respirato... ORPHA:635
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Anorexia, Leukopenia, Thrombocytosis, Leukocytosis, Apnea, H... ORPHA:20
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Slowed slurred speech OMIM:619827
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cholera
Hypovolemic shock, Hypotension, Abnormal blood ion concentration, Hypocalcemia, Irritability, Hyp... ORPHA:173
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Tachypnea, Abnor... ORPHA:860
Cocaine Intoxication
Mania, Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Isc... ORPHA:90068
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Telangiectasia, Tachypnea, Raynaud phenomenon, Elevat... OMIM:615934
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, ... ORPHA:171695
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Death in childhood, Cerebellar hyp... OMIM:613153
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Paresthesia, ... ORPHA:466677
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Apnea, Limb dystonia, Emotional lability, Irritabi... OMIM:608643
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Short stature, Overweight, Upper limb spast... ORPHA:457240
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Failure to thrive OMIM:263000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Reduced left ventricu... OMIM:201475
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Hereditary Late-Onset Parkinson Disease
Resting tremor, Rigidity, Dystonia, Parkinsonism, Parkinsonism with favorable response to dopamin... ORPHA:411602
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea OMIM:620203
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Cognitive impairment, Exaggerated... ORPHA:309246
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168600
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Double Outlet Right Ventricle
Failure to thrive, Aplasia/Hypoplasia of the thymus, Heart murmur, Hypocalcemia, Tachypnea, Hypop... ORPHA:3426
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Los... OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst OMIM:615181
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Umbilical hernia, Episodic t... ORPHA:2872
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Myopathy With Extrapyramidal Signs
Growth delay, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal motor function,... OMIM:615673
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf... ORPHA:466650
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Primary Progressive Freezing Gait
Postural tremor, Rigidity, Babinski sign, Clonus, Bradykinesia, Frequent falls ORPHA:75567
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Immunodeficiency 61
Obesity OMIM:300310
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Respiratory distress, Episodic tachypnea, Hyperuricemia, Irritabilit... ORPHA:348
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Bradykinesia OMIM:168601
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Rett Syndrome
Failure to thrive, Bradykinesia, Dystonia, Growth delay, Limb apraxia ORPHA:778
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Shor... OMIM:616113
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Nephronophthisis 15
Obesity OMIM:614845
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Irritabilit... OMIM:618278
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Thrombocytopenia, Irritability OMIM:253270
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Tremor, Rigidity, Dystonia ORPHA:683
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Pulmonary arterial hypertension, Hypertension, Small for gestational age OMIM:613320
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Crome Syndrome
Short stature, Cerebellar dysplasia OMIM:218900
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Tremor, Rigidity, Dystonia ORPHA:2828
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Bradykinesia, Spastic tetraparesis, Babinski sign, Dystonia OMIM:614924
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension, Diabet... OMIM:184850
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Small for gestational age, Failure to thrive, Camptodactyly of finger OMIM:604320
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Parkinson Disease 20, Early-Onset
Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Eyelid apraxia OMIM:615530
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Ataxia OMIM:608629
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST se... ORPHA:90065
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Chronic Pneumonitis Of Infancy
Respiratory distress, Tachypnea, Intercostal retractions, Failure to thrive ORPHA:91359
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Tachypnea, Low plasma citru... OMIM:615751
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Failure to thrive, Confusion, Abnormal circulating citrulline conce... ORPHA:415
Leukodystrophy, Hypomyelinating, 13
Ataxia, Failure to thrive, Irritability, Joint contracture, Exaggerated startle response OMIM:616881
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Motor deterioration, Truncal ataxia, Prolonged QTc in... OMIM:312750
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Dyst... ORPHA:453533
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Myoclonus, Rigidity, Babinski sign, Parkinsonism, Abnormal pyra... ORPHA:306674
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Spasticity, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babins... OMIM:234200
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis, Ataxia ORPHA:2318
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Action tremor, Rigidity, Dystonia, Hypertonia, Truncal ataxia, Bradykinesia,... ORPHA:309854
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Chorea, Short attention span, Irritability, Joint contracture, Exaggerated sta... OMIM:617864
Biotinidase Deficiency
Apnea, Hyperammonemia, Splenomegaly, Tachypnea, Ataxia OMIM:253260
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Hyperglycinemia, Agitation, Irritability, Impulsivity, Hyperactivity, Thrombocytopenia, Ex... OMIM:620423
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Joubert Syndrome
Episodic tachypnea, Apnea, Tremor, Ataxia, Abnormality of the hypothalamus-pituitary axis ORPHA:475
Friedreich Ataxia
Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Limb ataxia, Gait ataxia, At... OMIM:229300
Hyperekplexia 3
Hiatus hernia, Apnea, Syncope, Exaggerated startle response OMIM:614618
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Failure to thrive, Apnea, Tachypnea, Pulmonary arterial ... OMIM:265120
Primary Pulmonary Hypoplasia
Tachypnea, Apnea, Failure to thrive ORPHA:2257
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Emotional lability, Exaggerated startle response ORPHA:3198
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Apnea, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Agitation OMIM:618056
Tay-Sachs Disease
Precocious puberty, Increased serum beta-hexosaminidase, Memory impairment, Depression, Laryngeal... ORPHA:845
Alpha-1-Antitrypsin Deficiency
Emphysema, Bronchiectasis, Bronchitis ORPHA:60
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Respiratory distr... ORPHA:2299
Choreoacanthocytosis
Blepharospasm, Poor motor coordination, Involuntary movements, Impaired vibratory sensation, Rest... ORPHA:2388
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Hypophosphatasia
Emphysema ORPHA:436
Supranuclear Palsy, Progressive, 1
Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Parkinsonism, Bradykinesia, Eyelid ... OMIM:601104
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Supranuclear Palsy, Progressive, 2
Postural tremor, Retrocollis, Axial dystonia, Rigidity, Parkinsonism, Bradykinesia, Eyelid apraxia OMIM:609454
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Pancytopenia, Portal hypertension, Inguinal he... OMIM:613658
Joubert Syndrome 1
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity, Ataxia OMIM:213300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypertrophic cardiomyopathy, Mitral regurgitation, Dysmetria, Inguinal hernia,... OMIM:220111
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Failure to thrive, Respiratory distress, Tachypnea, Pulm... OMIM:610913
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Apnea, Hip contracture, Dysphagia, Exaggerated startle response, Flexi... OMIM:617301
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Right ... ORPHA:268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Respiratory distress, Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Orofaciodigital Syndrome Type 6
Failure to thrive, Episodic tachypnea, Apnea, Tremor, Ataxia ORPHA:2754
7Q31 Microdeletion Syndrome
Low-set ears, Short palpebral fissure, Childhood onset sensorineural hearing impairment, Enlarged... ORPHA:251061
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Palpitations, Arrhythmia,... ORPHA:892
Arima Syndrome
Polydipsia, Tachypnea, Ataxia, Anemia, Hypertension OMIM:243910
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Tachypnea, Small for gestational age, Systolic heart murmur ORPHA:555874
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Failure to thrive, Ataxia OMIM:608091
Hyperekplexia 1
Apnea, Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Congenital hypothyroidism, Apnea, Cognitive ... OMIM:617527
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Failure to thrive ORPHA:397715
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Hepatosplenomegaly, Orthos... OMIM:268800
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Exaggerated startle response, Bradycardia OMIM:608800
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Impaired vibration sensation in the lower limbs, Multiple joint contractures, Exaggerated startle... ORPHA:320406
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypotriglyceridemia, Failure to thrive, Corneal scarring, Chorea, Impaired oral bolus formation, ... ORPHA:404454
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Dysmetria, Ataxia ORPHA:93400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Chronic Thromboembolic Pulmonary Hypertension
Depression, Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-w... ORPHA:70591
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Chorea, Exaggerated startle response OMIM:272750
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Cerebellar dy... ORPHA:98889
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG, Ataxia ORPHA:480864
Smooth Muscle Dysfunction Syndrome
Tachypnea, Pulmonary arterial hypertension, Hypertension OMIM:613834
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Increased pulmonary vascular resistance, Tachypnea, Weight loss, Incre... ORPHA:60025
Narcolepsy 7
Obesity OMIM:614250
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Failure to thrive, Apnea, Exaggerated startle response, Dystoni... ORPHA:521426
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Double Outlet Left Ventricle
Abnormal right ventricular function, Tachypnea, Failure to thrive, Systolic heart murmur ORPHA:3427
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Aggressive behavior, Ataxia OMIM:610188
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Hypocomplementemic Urticarial Vasculitis
Emphysema, Pleural effusion ORPHA:36412
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Emotional lability, Cardiac conduction abnormality, Arrhythmia, ... ORPHA:2131
Asparagine Synthetase Deficiency
Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Exaggerated startle response OMIM:615574
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Gait ataxia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Farber Disease
Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis ORPHA:333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exaggerated startle r... OMIM:253800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Insulinoma
Increased body weight ORPHA:97279
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... OMIM:613177
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Tachypnea, Adren... ORPHA:3384
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle resp... ORPHA:79255
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Aprosencephaly, Poorly formed metencephalon OMIM:601374
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con... ORPHA:438213
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Goodpasture Syndrome
Pulmonary hemorrhage, Tachypnea, Weight loss, Increased blood urea nitrogen, Anemia OMIM:233450
Retinitis Pigmentosa 74
Obesity OMIM:616562
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Pleural effusion, Atelectasis OMIM:306400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
Short-Rib Thoracic Dysplasia 12
Atelectasis, Pulmonary hypoplasia OMIM:269860
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, Irritability OMIM:618367
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... OMIM:181000
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
Chand Syndrome
Atelectasis ORPHA:1401
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Zygomycosis
Pneumothorax, Pleural effusion, Acute infectious pneumonia, Atelectasis ORPHA:73263
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG, Ataxia OMIM:601992
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Noonan Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Abnormal EKG ORPHA:648
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Woodhouse-Sakati Syndrome
Mental deterioration, Choreoathetosis, Abnormal T-wave ORPHA:3464
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis ORPHA:534
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
22Q11.2 Deletion Syndrome
Atelectasis, Abnormal lung lobation ORPHA:567
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Relapsing Polychondritis
Atelectasis ORPHA:728
Hellp Syndrome
Increased body weight ORPHA:244242
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... ORPHA:797
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Marfan Syndrome
Emphysema, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Fabry Disease
Emphysema ORPHA:324
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave OMIM:241080
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation ORPHA:558
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response OMIM:619522
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis ORPHA:500150
Speech-Language Disorder 1
Oromotor apraxia OMIM:602081
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Viss Syndrome
Emphysema, Pulmonary artery aneurysm, Pneumothorax OMIM:619472
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359
Isolated Childhood Apraxia Of Speech
Overfolded helix, Horizontal eyebrow ORPHA:209908

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 Foxp2

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 Foxp2.

No publications found that use IMPC mice or data for Foxp2.

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MGI Allele Allele Type Produced
Foxp2tm384345(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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