Gene Summary

Name:
forkhead box P2
Synonyms:
D0Kist7,  2810043D05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

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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
Postnatal growth retardation, Short palpebral fissure, Childhood onset sensorineural hearing impa... ORPHA:251061
Speech-Language Disorder 1
Oromotor apraxia OMIM:602081
Isolated Childhood Apraxia Of Speech
Horizontal eyebrow, Overfolded helix 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
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... 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
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Intent... ORPHA:98762
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston... ORPHA:71517
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:616410
Cerebellar Ataxia, Cayman Type
Bradykinesia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor, Dystonia, Ataxia... OMIM:601238
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Impaired tactile sensation, Resting tremo... OMIM:617225
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Limb ataxia, Hypertonia, Babinski sign, Cerebellar calcifications, Limb dystonia, R... OMIM:618824
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Chorea, Cerebellar atroph... ORPHA:248111
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Action tremor, Rigidity, Pa... OMIM:300423
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Short stature, Rigidity, Dystonia, Ataxia OMIM:617836
Huntington Disease
Bradykinesia, Chorea, Cerebellar atrophy, Gait ataxia, Rigidity OMIM:143100
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Cerebellar dentate nucleus calcification, Dystonia, Ataxia, Parkinsonism, A... OMIM:618317
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Cerebellar dentate nucleus calcifica... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 32
Bradykinesia, Limb ataxia, Torticollis, Cerebellar atrophy, Gait ataxia, Limb myoclonus, Somatic ... OMIM:619862
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Positive Romberg sign, Cerebellar atrophy, Gait ataxi... OMIM:607136
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Cerebellar atrophy, Gait ataxia ORPHA:217012
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia 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, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst... OMIM:617435
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Babinski sign, Bradykinesia, Lower limb spasticity, Hyperesthesia, Frequent falls, ... ORPHA:100984
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic gait, Bradykinesia, Hemidystonia, Spastic tetraparesis, Short stature, Abnormal pyramidal... OMIM:619052
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Huntington Disease-Like 1
Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebellar atrophy, Frequent ... ORPHA:157941
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Shor... OMIM:616291
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis... OMIM:603516
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Postural tremor ORPHA:210571
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Death in childhood, Chorea, Ataxia, Lethargy OMIM:618683
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Autosomal Recessive Progressive External Ophthalmoplegia
Bradykinesia, Distal sensory impairment, Parkinsonism with favorable response to dopaminergic med... ORPHA:254886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... ORPHA:98760
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Spinocerebellar Ataxia Type 1
Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Chorea, Dys... ORPHA:98755
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Maternal d... ORPHA:45452
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism 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
Bradykinesia, Babinski sign, Limb ataxia, Lower limb spasticity, Spastic paraplegia, Upper limb s... OMIM:618418
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss OMIM:606438
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Spasticity, Cerebellar a... ORPHA:284332
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Cerebellar atroph... OMIM:300623
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Limb dystonia, Head tremor OMIM:614860
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Growth delay, Rigidity,... ORPHA:70594
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Rigidity, Dystonia, Parkinsonism,... OMIM:615528
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Spinocerebellar Ataxia Type 13
Bradykinesia, Limb ataxia, Torticollis, Cerebellar atrophy, Titubation, Impaired distal vibration... ORPHA:98768
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Intention tremor, Short stature, Gait ataxia, Ataxia, Dysmetria OMIM:608029
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:619466
Infantile Dystonia-Parkinsonism
Bradykinesia, Hypertonia, Limb hypertonia, Oculogyric crisis, Chorea, Cerebral palsy, Dystonia, P... ORPHA:238455
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Caribbean Parkinsonism
Bradykinesia, Apraxia, Action tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus, Weakness due t... ORPHA:97355
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, Spasticity, Parap... OMIM:617854
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Polyphagia, Hyperleucinemia, Increased... OMIM:620085
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:616710
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Parkinsonism, Rigidity ORPHA:306692
Parkinsonism With Polyneuropathy
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:619279
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia OMIM:604432
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity ORPHA:228169
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Oculogyric crisis, Limb hypertonia, Dystonia, Parkinsonism OMIM:617384
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Babinski sign, Limb ataxia, Impaired distal proprioception, Truncal ataxia, Positiv... OMIM:258450
Neuroferritinopathy
Bradykinesia, Babinski sign, Writer's cramp, Leg dystonia, Resting tremor, Abnormal dentate nucle... ORPHA:157846
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Respiratory distress, Confusion, Leukocyto... ORPHA:36238
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Oromandibular dystonia, Rigidity, Dystonia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Holocarboxylase Synthetase Deficiency
Anorexia, Irritability, Respiratory distress, Hyperammonemia, Thrombocytopenia, Ataxia, Weight lo... ORPHA:79242
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Leber Optic Atrophy And Dystonia
Bradykinesia, Spasticity, Athetosis, Upper motor neuron dysfunction, Dystonia OMIM:500001
Dystonia 16
Bradykinesia, Generalized dystonia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal p... OMIM:612067
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Spasticity, Rigidity, Parkinsonism, Somatic sensory dysfunction OMIM:221820
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
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
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, O... OMIM:300055
Nathalie Syndrome
Abnormal EKG OMIM:255990
Huntington Disease
Bradykinesia, Babinski sign, Decreased body mass index, Chorea, Poor fine motor coordination, Inv... ORPHA:399
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Abnormality of extrapyramida... ORPHA:13
N-Acetylglutamate Synthase Deficiency
Anorexia, Hyperglutamatemia, Respiratory distress, Confusion, Hyperalaninemia, Cognitive impairme... OMIM:237310
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park... OMIM:606693
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal... OMIM:606159
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cognitive impairment, Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia ORPHA:1177
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Abnormal neuron morphology, Parkinsonism ORPHA:412066
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Chorea, Progressive extrapyramidal muscular rigidity, Parkinsonism ... ORPHA:53351
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Motor deterioration, Cognitive impairment, Progressive language d... ORPHA:79264
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Truncal ataxia, Incoordination, Episodic ataxia, Gait ataxia, Hemiparesis, Dystonia... OMIM:601338
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Tongue thrusting, Sudden episodic apnea, Im... 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
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Chorea, Spasticity, Dysdiadochokinesis, Cerebellar atrop... OMIM:610217
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Waddling gait, First degree atrioventricular block, Atrioventricular block, Lo... OMIM:310300
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:102
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Spinocerebellar Ataxia 4
Distal sensory impairment, Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia OMIM:600223
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Gait ataxia, Involuntary movements, Slowed slurred speech, Rigidity... ORPHA:391411
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Clumsiness, Postural tremor OMIM:619911
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia ORPHA:36387
Familial Nasal Acilia
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections ORPHA:922
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Emphysema, Bronchiolitis OMIM:604571
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait... ORPHA:98933
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Obesity And Hypopigmentation
Obesity, Overgrowth OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Dravet Syndrome
Bradykinesia, Incoordination, Poor fine motor coordination, Cogwheel rigidity, Action tremor, Rig... ORPHA:33069
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Frequent falls, Rigidity, Dystonia, Parkinsonism, Spasti... ORPHA:289560
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequen... ORPHA:227510
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Tetanus
Respiratory distress, Bradycardia, Tremor, Hypertension, Elevated circulating creatine kinase con... ORPHA:3299
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Pancytopenia, Cardiomyopathy, Failure to thrive, Hyperammonemia, A... OMIM:606054
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Autosomal Dominant Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Torticollis, Abnormality of extrapyramidal mot... ORPHA:98808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Hypocalcemia, Hypoproteinemia, Increased circulating... ORPHA:26793
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Serotonin Syndrome
Irritability, Agitation, Confusion, Tremor, Hypertension, Hypotension, Restlessness, Delirium, Ta... ORPHA:43116
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Elevated circulating carcinoemb... ORPHA:264675
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hyperuricemia, Hypertension, Leukocytosis, Hypotension, Hyperammonemia, Atax... ORPHA:134
Bronchopulmonary Dysplasia
Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis ORPHA:70589
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Inguinal hernia, Hyperhomocystinemia, Pulmonary arte... OMIM:614857
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Olivopontocerebellar atrophy, Rigidity, Ataxia, Parkinsonism OMIM:146500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Fragile X-Associated Tremor/Ataxia Syndrome
Bradykinesia, Dysesthesia, Gait ataxia, Intention tremor, Rigidity, Ataxia, Parkinsonism, Diffuse... ORPHA:93256
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Hypermanganesemia With Dystonia 1
Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,... OMIM:613280
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Spasticity, Cerebellar at... ORPHA:98759
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Ataxia OMIM:614229
Acute Lung Injury
Elevated circulating C-reactive protein concentration, Respiratory distress, Increased circulatin... ORPHA:178320
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Perry Syndrome
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss OMIM:168605
Citrullinemia Type I
Elevated plasma citrulline, Torticollis, Failure to thrive, Hyperammonemia, Ataxia, Tachypnea ORPHA:247525
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ... ORPHA:101070
Recurrent Respiratory Papillomatosis
Respiratory distress, Choking episodes, Failure to thrive, Dysphagia, Syncope, Tachypnea ORPHA:60032
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O... ORPHA:370022
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Hyperparathyroidism, Neonatal Severe
Polydipsia, Elevated circulating parathyroid hormone level, Calcinosis, Anemia, Primary hyperpara... OMIM:239200
Childhood-Onset Nemaline Myopathy
Clumsiness, Slender build, Bradykinesia ORPHA:171439
High Altitude Pulmonary Edema
Anorexia, Tachypnea, Leukocytosis, Tachycardia ORPHA:330012
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Pulmonary hemorrhage, Elevated circulating C-reactive protein concentration OMIM:616414
Postencephalitic Parkinsonism
Bradykinesia, Babinski sign, Oculogyric crisis, Resting tremor, Tremor by anatomical site, Cogwhe... ORPHA:97349
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor... ORPHA:225147
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Tremor, Dystonia, Ataxia, Tachypnea, Choreoathetosis ORPHA:765
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Prolonged QT interval, Hypocalcemia, Atrial fibrillation,... ORPHA:31826
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Bacterial Toxic-Shock Syndrome
Fasciitis, Myocarditis, Elevated circulating creatinine concentration, Respiratory distress, Hypo... ORPHA:36234
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Hyperalaninemia, Failure to thrive, Ataxia, Elevated circulating acylcarnitine concentrat... OMIM:615838
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:616531
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Autosomal Recessive Spastic Paraplegia Type 77
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Paroxysmal dystonia, Intention ... ORPHA:466722
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Co... OMIM:311510
Adult-Onset Nemaline Myopathy
Bradykinesia ORPHA:171442
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... OMIM:610978
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Gait disturbance, Cognitive impairment, Ataxia, Limb dysmetria, Dysmetria ORPHA:94125
Manganese Poisoning
Bradykinesia, Hypertonia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Dyston... ORPHA:306682
Avian Influenza
Congestive heart failure, Elevated circulating C-reactive protein concentration, Respiratory dist... ORPHA:454836
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hypertrophic cardiomyopathy, Tachypnea, Ataxia, Dilated cardiomyopathy, Hyp... OMIM:614299
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Hypertonia, Resting tremor, Abnormality of extrapyramidal motor function, Tremor, C... ORPHA:254892
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Joubert Syndrome 7
Tachypnea, Ataxia, Central apnea, Episodic tachypnea OMIM:611560
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Ankle clonus, Resting tremor, Axial dystonia... OMIM:612953
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... ORPHA:542323
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Elevated plasma citrulline, Hypertaurinemia, Hyperglutamatemi... ORPHA:3008
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Neuroblastoma
Irritability, Anemia, Respiratory distress, Hypertension, Thrombocytopenia, Ataxia, Weight loss, ... ORPHA:635
Poretti-Boltshauser Syndrome
Cerebellar cyst, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cere... OMIM:615960
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Anemia, Hyperuricemia, Cardiac arrest, Leukocytosis, Hypotension, Hyperammonemia, Apnea... ORPHA:20
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
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
Childhood-onset truncal obesity, Obesity ORPHA:71529
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Cholera
Irritability, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hypotension, Hypovolem... ORPHA:173
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Maternal diabetes, Abnormality of blood circulati... ORPHA:860
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Cocaine Intoxication
Ischemic stroke, Agitation, Prolonged QT interval, Respiratory distress, Tachycardia, Supraventri... ORPHA:90068
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Intercostal retractions, Third hear... ORPHA:1329
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Babinski sign, Spasticity, Intention tremor, Rigidity, Dystonia, Parkinsonism, Myoc... ORPHA:171695
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Leukopenia, Ray... OMIM:615934
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity 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
Bradykinesia, Resting tremor, Impaired distal proprioception, Parkinsonism with favorable respons... OMIM:157640
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections ORPHA:3348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Hydrocephalus, Dandy-Walker malformation, Cerebellar dysplas... OMIM:613153
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Interlobular septal ... ORPHA:2302
Acute Interstitial Pneumonia
Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulmonary fibrosis... 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
Hyperkinetic movements, Tremor, Cerebellar dysplasia, Short stature, Upper limb spasticity, Overw... ORPHA:457240
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tachypnea, Respiratory distress OMIM:263000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced left ventricular ejection fraction, Decreased circulating carnitine concentration, Elevat... OMIM:201475
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Fr... ORPHA:411602
Cardiomyopathy, Dilated, 2H
Tachypnea, Reduced left ventricular ejection fraction OMIM:620203
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Cog... ORPHA:309246
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism OMIM:168600
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Hypocalcemia, Pulmonic stenosis, Failure to thrive, Heart murmur... ORPHA:3426
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Loss of ambulation, Arrhyt... OMIM:310200
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Hydrocephalus, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar hypoplasia OMIM:615181
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Plantar flexion contracture, Umbilical hernia, Episodic tachypnea, Contracture of th... ORPHA:2872
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Myopathy With Extrapyramidal Signs
Abnormality of extrapyramidal motor function, Chorea, Tremor, Frequent falls, Clonus, Cerebellar ... OMIM:615673
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Confusion, Sinus tachycardia, Abnormal pulse p... ORPHA:466650
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Frequent falls, Clonus, Rigidity, Postural tremor ORPHA:75567
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Glomu... OMIM:168000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Immunodeficiency 61
Obesity OMIM:300310
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Respiratory distress, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... ORPHA:348
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Palpitations, Adrenal pheochromocytoma, Glomus jugular tumor, Hypertension associat... OMIM:605373
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Myoclonus OMIM:168601
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Rett Syndrome
Bradykinesia, Limb apraxia, Growth delay, Failure to thrive, Dystonia ORPHA:778
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Progressive hearing impairment, Short stature, Dystonia, Ataxia, Ce... OMIM:616113
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ... ORPHA:423
Nephronophthisis 15
Obesity OMIM:614845
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to... OMIM:618278
Progressive Supranuclear Palsy
Bradykinesia, Tremor, Blepharospasm, Rigidity, Dystonia ORPHA:683
Holocarboxylase Synthetase Deficiency
Irritability, Tachypnea, Thrombocytopenia, Hyperammonemia OMIM:253270
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Hypertension, Small for gestational age, Pulmonary arterial hypertension OMIM:613320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Dysphagia, Episodic tachypnea ORPHA:163961
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Young-Onset Parkinson Disease
Bradykinesia, Spasticity, Tremor, Rigidity, Dystonia ORPHA:2828
Crome Syndrome
Cerebellar dysplasia, Short stature OMIM:218900
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Stiff-Person Syndrome
Anemia, Depression, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabet... OMIM:184850
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Failure to thrive, Tachypnea, Small for gestational age OMIM:604320
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Spastic tetraparesis, Failure to thrive, Dystonia OMIM:614924
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia OMIM:615530
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Joubert Syndrome 3
Ataxia, Central apnea, Episodic tachypnea OMIM:608629
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... ORPHA:90065
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Chronic Pneumonitis Of Infancy
Failure to thrive, Tachypnea, Intercostal retractions, Respiratory distress ORPHA:91359
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypernatremia, Hyperammonemia, Hypoornithinemia, Hyperprolinemia, Low plasma cit... OMIM:615751
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Gait apraxia, Gait ataxia, Motor deterioration, Abnormal ... OMIM:312750
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Joint contracture, Ataxia OMIM:616881
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Progressive cerebellar ataxia, Abnormal circulating citrulline concentration, Hyperornithinemia, ... ORPHA:415
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Progressive hearing impairment, Dystonia, Ataxia, Cerebellar hypopl... ORPHA:453533
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Oculogyric crisis, Blepharospasm, Upper motor neuron dys... ORPHA:306674
Pure Autonomic Failure
Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension ORPHA:441
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Bl... OMIM:234200
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Ataxia, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Hypersensitivity pneumonitis, Atelectasis ORPHA:2902
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Truncal ataxia, Poor fine motor coordination, Dysdiadochokinesis, Actio... ORPHA:309854
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Chorea, Short attention span, Exaggerated startle response, Failure to thrive, Join... OMIM:617864
Biotinidase Deficiency
Hyperammonemia, Apnea, Ataxia, Splenomegaly, Tachypnea OMIM:253260
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hypernatremia,... OMIM:620423
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections OMIM:242700
Joubert Syndrome
Tremor, Abnormality of the hypothalamus-pituitary axis, Apnea, Ataxia, Episodic tachypnea ORPHA:475
Friedreich Ataxia
Limb ataxia, Congestive heart failure, Hypertrophic cardiomyopathy, Gait ataxia, Ataxia, Abnormal... OMIM:229300
Hyperekplexia 3
Hiatus hernia, Syncope, Apnea, Exaggerated startle response OMIM:614618
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Failure to thrive, Apne... OMIM:265120
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Primary Pulmonary Hypoplasia
Failure to thrive, Tachypnea, Apnea ORPHA:2257
Stiff Person Spectrum Disorder
Emotional lability, Diabetes mellitus, Hypothyroidism, Exaggerated startle response ORPHA:3198
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response, Respiratory distress OMIM:618201
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Apnea, Dysmetria OMIM:618056
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Tay-Sachs Disease
Memory impairment, Depression, Increased serum beta-hexosaminidase, Tremor, Short attention span,... ORPHA:845
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Bronchitis, Emphysema ORPHA:60
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Choreoacanthocytosis
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Resting tremor, Chorea,... ORPHA:2388
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Recurrent sinopulmonary infec... ORPHA:244
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Hypophosphatasia
Emphysema ORPHA:436
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Supranuclear Palsy, Progressive, 1
Bradykinesia, Retrocollis, Axial dystonia, Tremor, Limb dystonia, Rigidity, Parkinsonism, Eyelid ... OMIM:601104
Supranuclear Palsy, Progressive, 2
Bradykinesia, Retrocollis, Axial dystonia, Rigidity, Parkinsonism, Eyelid apraxia, Postural tremor 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
Anemia, Inguinal hernia, Pancytopenia, Hypocalcemia, Portal hypertension, Unconjugated hyperbilir... OMIM:613658
Joubert Syndrome 1
Hyperactivity, Self-mutilation, Ataxia, Central apnea, Episodic tachypnea, Aggressive behavior OMIM:213300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Truncal ataxia, Tremor, Hypertension, Hypertrophic cardiomyopathy, Failure to th... OMIM:220111
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, F... OMIM:610913
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla OMIM:619632
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ... ORPHA:268
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Apnea, Dysphagia, Flexi... OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... OMIM:620233
Orofaciodigital Syndrome Type 6
Tremor, Failure to thrive, Apnea, Ataxia, Episodic tachypnea ORPHA:2754
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Short palpebral fissure, Childhood onset sensorineural hearing impa... ORPHA:251061
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Von Hippel-Lindau Disease
Myocarditis, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Palpitations, Pancreatic islet... ORPHA:892
Arima Syndrome
Polydipsia, Anemia, Hypertension, Ataxia, Tachypnea OMIM:243910
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Tachypnea, Small for gestational age, Tricuspid regurgitation ORPHA:555874
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Hyperekplexia 1
Inguinal hernia, Apnea, Exaggerated startle response, Umbilical hernia OMIM:149400
Joubert Syndrome 2
Failure to thrive, Ataxia, Central apnea, Episodic tachypnea OMIM:608091
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Congenital hypothyroidism, Failure to thrive,... OMIM:617527
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Tachypnea, Apnea ORPHA:397715
Sandhoff Disease
Progressive psychomotor deterioration, Impaired temperature sensation, Orthostatic hypotension, E... 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
Large for gestational age, Overgrowth, Small for gestational age ORPHA:254534
Congenital Sialidosis Type 2
Ataxia, Abnormal EKG, Dysmetria, Telangiectasia ORPHA:93400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Hypotriglyceridemia, Chorea, Athetosis, Lingual dystonia, Corneal sca... ORPHA:404454
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc... ORPHA:70591
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response, Dementia OMIM:272750
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Bilateral Perisylvian Polymicrogyria
Limb hypertonia, Oromotor apraxia, Cerebellar vermis hypoplasia, Lower limb spasticity, Spasticit... ORPHA:98889
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ataxia, Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Smooth Muscle Dysfunction Syndrome
Tachypnea, Hypertension, Pulmonary arterial hypertension OMIM:613834
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Right ventricular failure, Weight loss, Tachypnea... ORPHA:60025
Narcolepsy 7
Obesity OMIM:614250
Netherton Syndrome
Recurrent respiratory infections, Emphysema ORPHA:634
Al Amyloidosis
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh... ORPHA:85443
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency