Gene Summary

Name:
SECIS binding protein 2-like
Synonyms:
3110001I20Rik

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
abnormal auditory brainstem response Secisbp2lem1(IMPC)J HOM   Early adult 1.19×10-06
increased grip strength Secisbp2lem1(IMPC)J HOM Late adult 9.51×10-05
increased lean body mass Secisbp2lem1(IMPC)J HOM   Early adult 4.13×10-05
increased bone mineral density Secisbp2lem1(IMPC)J HOM   Early adult 1.15×10-05
decreased circulating aspartate transaminase level Secisbp2lem1(IMPC)J HOM Late adult 1.13×10-07
increased startle reflex Secisbp2lem1(IMPC)J HOM Early adult 3.41×10-10
increased lean body mass Secisbp2lem1(IMPC)J HOM   Late adult 6.57×10-08
increased heart rate Secisbp2lem1(IMPC)J HOM   Late adult 1.32×10-05
increased aggression Secisbp2lem1(IMPC)J HOM Early adult 4.73×10-05
hyperactivity Secisbp2lem1(IMPC)J HOM   Late adult 1.76×10-07
increased bone mineral content Secisbp2lem1(IMPC)J HOM   Late adult 2.64×10-06
abnormal hindlimb morphology Secisbp2lem1(IMPC)J HOM Late adult 1.51×10-05
increased circulating cholesterol level Secisbp2lem1(IMPC)J HOM Late adult 7.08×10-07
decreased total body fat amount Secisbp2lem1(IMPC)J HOM Late adult 1.49×10-06

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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.

Combined SHIRPA and Dysmorphology

Images

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

1 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Electroretinography 3

Fundus file

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Forepaw

1 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

3 Images

Human diseases caused by Secisbp2l 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Secisbp2l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Hypercholesterolemia, Myocardial infarction OMIM:608320
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Failure to thrive, Increased bone mineral density OMIM:615198
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera... ORPHA:3416
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Van Buchem Disease
Hearing impairment, Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral ... OMIM:239100
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Hearing impairment, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ... OMIM:241520
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Congestive heart failure, Increased LDL cholesterol conc... OMIM:615703
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G... ORPHA:2790
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:3152
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density with cystic... OMIM:136300
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Dysphagia, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:255100
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Decreased circulating free ... ORPHA:276556
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Thickened cortex of long bones, Generalized osteosclerosis, Osteop... OMIM:607634
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Optic atrophy, Craniofacial osteosclerosis, Hearing impairment, Cortic... OMIM:122860
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Decreased circulating free ... ORPHA:276575
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Melorheostosis
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Decreased circulating free fatty acid level, Polyphagia,... ORPHA:324575
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response OMIM:617028
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Facial paralysis, Fractures of the long bones, Gene... OMIM:166600
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Intermediate Osteopetrosis
Cortical sclerosis, Cranial nerve compression, Osteomyelitis, Increased susceptibility to fractur... ORPHA:210110
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Polyphagia, Syncope, Tachyc... ORPHA:276580
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Lipodystrophy, Hype... OMIM:612526
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Increased C-peptide level, Hypercholesterolemia, Hypera... OMIM:620211
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Irr... OMIM:616881
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Sensorineural hearing impairment, Thicke... OMIM:144750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Papilledema, Osteopetrosis, Increased bone mineral density OMIM:620366
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Congenital Generalized Lipodystrophy
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Adipose tissue loss, Li... ORPHA:528
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Muscular Dystrophy, Congenital, Lmna-Related
Failure to thrive, Elbow contracture, Paroxysmal atrial fibrillation, Hamstring contractures, Hip... OMIM:613205
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hypercholesterolemia, Hyp... OMIM:182290
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Variegate Porphyria
Tachycardia OMIM:176200
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Osteopetrosis, Increased bone mineral density, Facial palsy, Re... OMIM:611490
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Failure to thrive, Bradycardia, Elevated circulating creatine kinase concentration, L... OMIM:613327
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Obes... ORPHA:26793
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Prominent fingertip pads, Failure to thrive, Clinodactyly of the 4th finger, 2-... ORPHA:485405
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia, Agitation ORPHA:276608
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr... OMIM:611705
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:192445
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Weight loss, Palpitations OMIM:188580
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia, Abnormal circulating protein concentration, Elevated c... ORPHA:264675
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Hearing impairment, Osteolysis OMIM:167250
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... ORPHA:2457
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Snakebite Envenomation
Epistaxis, Hypotension, Neuromuscular dysphagia, Cardiogenic shock, Pseudobulbar paralysis, Cereb... ORPHA:449285
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Pathologic fracture, Oste... OMIM:259700
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Conductive hearing impairment, Abnormal cranial nerve morphology, Sens... ORPHA:1522
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Tachycardia, Flexion contracture, Hypertension, Agitatio... OMIM:613870
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Temple Syndrome
Small hand, Clinodactyly, Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, F... OMIM:616222
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hypertension, Hyperostosis frontalis ... ORPHA:77296
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Tachycardia, Dys... ORPHA:368
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... ORPHA:247585
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Obesity, Hypercholesterolemia, Short foot ORPHA:254531
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... OMIM:212138
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Ventricular tachycardia, Elevated circulating creatine ki... OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Motor stereotypy ORPHA:79155
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Pseudohypoparathyroidism Type 1B
Depression, Laryngeal dystonia, Increased bone density with cystic changes, Irritability, Increas... ORPHA:94089
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... OMIM:151660
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Tetanus
Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachycardia, Hyperten... ORPHA:3299
Dysosteosclerosis
Craniofacial hyperostosis, Optic atrophy, Coarse metaphyseal trabecularization, Hearing impairmen... ORPHA:1782
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Hearing impairment, Increased bone mine... ORPHA:90650
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Trichothiodystrophy 6, Nonphotosensitive
Bilateral sensorineural hearing impairment, Coronal craniosynostosis, Small for gestational age, ... OMIM:616943
Osteogenesis Imperfecta, Type Xiii
Hearing impairment, Increased bone mineral density, Joint hypermobility, Decreased body weight, P... OMIM:614856
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age, Hyperactivity, Increased circulating thyroglobulin concen... OMIM:609152
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin ORPHA:90037
Albers-Schönberg Osteopetrosis
Optic atrophy, Mandibular osteomyelitis, Hearing impairment, Osteomyelitis, Generalized osteoscle... ORPHA:53
Autoimmune Hypoparathyroidism
Increased bone mineral density, Laryngeal dystonia, Depression, Irritability ORPHA:36913
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Elevated... ORPHA:57777
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Diastrophic Dysplasia
Hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ears, Large earlobe, Jo... ORPHA:628
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Increased body weight, Abnormal circulating ... ORPHA:263455
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Congenital sensorineural hearing impairment, Decreased body weight, Osteopetrosis, Increased bone... OMIM:617306
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia, Weight loss OMIM:613239
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Small hand, Dilated cardiomyopathy, Renovascular hypertension, Hypercholest... ORPHA:401923
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Cutaneous syndactyly, Vent... OMIM:601005
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy, Osteopetrosis, Failure to thrive OMIM:615085
Andersen-Tawil Syndrome
Small hand, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extra... ORPHA:37553
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Increased adipose tissue around the neck, Increased f... OMIM:248370
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... ORPHA:542323
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Atypical scarring of skin, Abnormal circulating porphyrin concentration ORPHA:79273
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Cranial hyperostosis, Cranial nerve co... OMIM:259710
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Arac... OMIM:616730
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... OMIM:602668
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Laron Syndrome
Brachydactyly, Hypercholesterolemia, Short toe, Truncal obesity ORPHA:633
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Tachycardia, Dysphagia ORPHA:79264
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Smith-Magenis Syndrome
Self-injurious behavior, Toe syndactyly, Failure to thrive in infancy, Obesity, Attention deficit... ORPHA:819
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Obesity OMIM:619737
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Gastrointestinal ... ORPHA:247598
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... ORPHA:64753
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal... ORPHA:93284
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Fa... ORPHA:1329
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Oral-pharyngeal dysphagia, Torsade de pointes, ... OMIM:616878
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small hand, Clinodactyly, Obesity, Hypercholesterolemia, Truncal obesity, Short foot, Small for g... ORPHA:96184
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Hearing impairment, Increased bone mineral density, Sensorineural ... OMIM:239000
Mercury Poisoning
Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension ORPHA:330021
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Hypocalc... ORPHA:94093
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Ventricular escape rhy... ORPHA:98855
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Facial telangiectasia, Inguinal hernia, Aggressive behavior, Attention ... OMIM:620141
Camurati-Engelmann Disease
Hearing impairment, Cranial nerve compression, Slender build, Sclerosis of skull base, Optic nerv... OMIM:131300
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of b... ORPHA:860
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Irritability, Joint contracture, EEG with generalized slow activity, Exaggerat... OMIM:617864
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... ORPHA:77297
Galactokinase Deficiency
Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas... ORPHA:79237
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Palpitations, Hypo... OMIM:263800
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Increased adipose tissue around the neck, Increased facial ... ORPHA:280365
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Hypertrophic cardiomyo... ORPHA:98853
High Altitude Pulmonary Edema
Tachycardia, Anorexia ORPHA:330012
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification ORPHA:163649
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, Coarse metaphyseal trabecularization, Conductive hearing impairment, Facial hyperos... ORPHA:2780
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Prader-Willi Syndrome
Self-injurious behavior, Osteopenia, Small hand, Clinodactyly, Radial deviation of finger, Decrea... OMIM:176270
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Elbow flexion contracture, Hypertrophic cardiomyopathy, Increased LDL cho... ORPHA:98863
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension... ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Metatarsus valgus, Hypercholesterolemia, Motor stereotypy, Genu varum, Tapered finger ORPHA:2479
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Camptodactyly of finger, Contracture of the distal interphalangeal joi... OMIM:617072
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Hypotension, Fasciitis, Shock, Elevated circulating creatinine conce... ORPHA:36234
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Increased bone mineral density ORPHA:1237
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated circul... ORPHA:90068
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Angina pecto... ORPHA:412
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Portal hypertension, Hypertriglycerid... OMIM:278000
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Cranial hyperostosis, Irritability, Optic d... OMIM:259720
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Hallu... OMIM:618348
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Hypokalemia, Hypertension, Small for gestat... OMIM:218030
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Graft Versus Host Disease
Failure to thrive, Fasciitis, Hyperbilirubinemia, Dupuytren contracture, Lipodystrophy, Tachycardia ORPHA:39812
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level OMIM:103900
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Porphyria Variegata
Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Tachycardia, Hypertension ORPHA:79473
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Anorexia ORPHA:49827
Tularemia
Tachycardia ORPHA:3392
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercho... ORPHA:90041
Dysosteosclerosis
Osteopenia, Optic atrophy, Facial paralysis, Hearing impairment, Sclerosis of hand bone, Sclerosi... OMIM:224300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Cardiomyopathy, Elevated circulating creatine kinase concentration, Increased ... ORPHA:264580
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Addictive alcohol use, Prolonged QT i... ORPHA:31826
Double Outlet Right Ventricle
Failure to thrive, Heart murmur, Hypocalcemia, Tachycardia, Pulmonic stenosis ORPHA:3426
Pycnodysostosis
Coronal craniosynostosis, Increased susceptibility to fractures, Mild conductive hearing impairme... ORPHA:763
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Hearing impairment, Exaggerated startle response OMIM:620114
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... OMIM:614921
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension OMIM:613677
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Neuhauser Syndrome
Osteopenia, Genu valgum, Arachnodactyly, Hypercholesterolemia, Dysphagia OMIM:249310
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Failure to thrive, Hypomethioninemia, Pulmonary arterial hypertens... OMIM:277400
Serotonin Syndrome
Hypotension, Tachycardia, Restlessness, Hypertension, Agitation ORPHA:43116
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... ORPHA:320
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Corneal scarring, Talipes equinovarus, Bradycardia, Retinal hemorrhage, Tachycard... OMIM:614653
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage, Clubbing of fingers ORPHA:335
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hypercholesterolemia, ... ORPHA:79240
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... ORPHA:289176
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Sepsis In Premature Infants
Hypotension, Decreased body weight, Bradycardia, Elevated circulating C-reactive protein concentr... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hyperammonemia, Knee flexion contracture, Hypercholesterolemia,... OMIM:620454
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response OMIM:609541
Cholera
Hypovolemic shock, Hypotension, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion conce... ORPHA:173
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Lysinuric Protein Intolerance
Osteopenia, Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating fer... ORPHA:470
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Depression, Laryngeal dystonia, Obesity, Sensorineural hearing impairment, ... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder,... OMIM:617600
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Desmosterolosis
Low-set ears, Failure to thrive, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, ... ORPHA:35107
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Abnormal auditory evoked potentials, Depression, Abnormal motor evoked... ORPHA:909
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Hypertension, Osteolysis ORPHA:1764
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Hypertension, Hypercholest... ORPHA:363618
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Short toe, Umbilical hernia, Tricuspid regurgitation, Obesity, Mitral regurgi... ORPHA:404443
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids, Finger swellin... OMIM:309000
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Sandal gap, Short toe, Short 5th metacarpal, Arrhythmia, Paroxysmal supraventricular ... OMIM:617877
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Werner Syndrome
Osteoporosis, Slender build, Joint stiffness, Increased bone mineral density ORPHA:902
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopathy, Ventricular tachycardia, ... OMIM:300952
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive, Tremor ORPHA:94063
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Low Phospholipid-Associated Cholelithiasis
Hypertension, Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, ... ORPHA:505248
Schwartz-Jampel Syndrome
Blepharospasm, Shoulder flexion contracture, Low-set, posteriorly rotated ears, Joint stiffness, ... ORPHA:800
Lipodystrophy, Familial Partial, Type 7
Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub... OMIM:606721
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Depression, Laryngeal dystonia, Obesity, Irritability, Increased bone miner... ORPHA:79444
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Liddle Syndrome 1
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:177200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Aggressive behavior, Tachycardia, Dilated cardiomyopathy OMIM:618321
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Failure to thrive, Hearing impairment, Camptodactyly of... ORPHA:90652
Crimean-Congo Hemorrhagic Fever
Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperitone... ORPHA:99827
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia, Anorexia ORPHA:521219
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Osteopetrosis, Diaphyse... OMIM:618476
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Ventricular tachycardia, Clu... OMIM:605676
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... ORPHA:186
Acute Intermittent Porphyria
Pseudobulbar paralysis, Hyponatremia, Tachycardia, Restlessness, Hypertension ORPHA:79276
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anorexia, Tachycardia, Hypertension ORPHA:139411
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Weight loss, Syncope, Osteoporosis, Tachycardia ORPHA:98849
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... ORPHA:231632
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Poems Syndrome
Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Weight loss, Papilledema ORPHA:2905
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Papilledema, Small for gestational age, Increased bone mineral de... OMIM:127000
Trichothiodystrophy
Osteopenia, Multiple joint contractures, Intention tremor, Protruding ear, Bilateral sensorineura... ORPHA:33364
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Lysosomal Acid Lipase Deficiency
Hypotension, Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholestero... ORPHA:275761
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Elbow flexion contracture, Hip contracture, Joint hypermobility, Exa... OMIM:617301
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Failure to thrive, Hearing impairment, Abnormality of peri... ORPHA:90321
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Osteopenia, Failure to thrive, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertens... ORPHA:79259
Raine Syndrome
Low-set ears, Protruding ear, Posteriorly rotated ears, Subperiosteal bone formation, Mixed heari... OMIM:259775
Imerslund-Gräsbeck Syndrome
Tachycardia, Weight loss, Failure to thrive ORPHA:35858
Cardiac Diverticulum
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Mi... ORPHA:1686
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Gaucher Disease
Osteopenia, Depression, Hearing impairment, Osteolysis, Pathologic fracture, Osteomyelitis, Joint... ORPHA:355
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Failure to thri... OMIM:133540
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... ORPHA:2658
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Failure to thrive, Umbilical hernia, Hyperald... ORPHA:534
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Failure to thrive, Elevated circulating creatine kinase concentration, Arrh... OMIM:610131
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Desmosterolosis
Low-set ears, Joint contracture of the hand, Cupped ear, Failure to thrive, Posteriorly rotated e... OMIM:602398
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sensorineural hearing impairment, Generalized osteoscleros... ORPHA:89936
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolem... OMIM:619471
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Tay-Sachs Disease
Optic atrophy, Depression, Hearing impairment, Laryngeal dystonia, Limited elbow extension, Tremo... ORPHA:845
Degcags Syndrome
Osteopenia, Toe syndactyly, Short thumb, Oral-pharyngeal dysphagia, Preaxial hand polydactyly, Fa... OMIM:619488
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Renal Nutcracker Syndrome
Tachycardia, Syncope, Weight loss, Orthostatic hypotension ORPHA:71273
Ogden Syndrome
Sandal gap, Broad hallux, Umbilical hernia, Torsade de pointes, Premature atrial contractions, Hy... OMIM:300855
Asparagine Synthetase Deficiency
Failure to thrive, EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, ... OMIM:615574
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Failure to thri... OMIM:216400
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Legius Syndrome
Xanthelasma, Polydactyly, Paroxysmal atrial tachycardia, Attention deficit hyperactivity disorder... ORPHA:137605
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Pheochromocytoma/Paraganglioma Syndrome 4