Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

histone deacetylase 2
Yy1bp,  D10Wsu179e

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hdac2 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 Hdac2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Neoplasm of the heart, Junctional ectopic tachycardia ORPHA:3283
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... OMIM:618782
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Atrial Septal Defect 6
Bradycardia, Atrial septal defect, Atrial fibrillation OMIM:613087
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Osteoarthritis of the ... OMIM:601344
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Caudal Regression Syndrome
Missing ribs, Abnormality of pelvic girdle bone morphology, Maternal diabetes, Hypoplastic verteb... ORPHA:3027
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia, Flushing OMIM:167400
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Lethargy, Myopathy, Cardiomyopathy, Facial palsy OMIM:201470
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Bradykinesia, Lethargy OMIM:618683
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Short long bone, Irregular acetab... OMIM:169170
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Reduced muscle carnitine level, Excessive d... OMIM:212140
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pla... ORPHA:2347
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Cardiomegaly OMIM:227150
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right vent... ORPHA:1209
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hitchhiker thumb, Hypoplastic cervic... OMIM:222600
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Letharg... OMIM:602390
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Hypoplastic vertebral ... OMIM:263540
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Beaking of ver... ORPHA:3101
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure, Increased variability in muscle fiber diameter, Type 1 mu... OMIM:618654
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnormal... ORPHA:2746
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness, Hepatomegaly, Lethargy, Palpitati... ORPHA:276556
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Small for gestational age, Pol... ORPHA:294975
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short palm, Hypoplastic vertebral bodies,... OMIM:258480
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Cyanosis, Systolic heart murmur, Patent foramen ovale, Congestive heart... ORPHA:439
Narrow iliac wing, Absent paranasal sinuses, High palate, Progressive bowing of long bones, Hypop... OMIM:224300
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hypoplastic vertebral bodies, Cryptorchidism, Narrow vertebral interpedic... OMIM:101800
Odontoid Hypoplasia
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... OMIM:613628
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy, Lethargy ORPHA:26792
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy OMIM:618815
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness, Hepatomegaly, Lethargy, Palpitati... ORPHA:276575
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Hypertrophic cardiomyopathy, Loss of consciousness, Hepatomegaly, Lethargy, Palpitati... ORPHA:276580
Carnitine Palmitoyl Transferase 1A Deficiency
Arrhythmia, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Coma, Loss of consciousness, Su... ORPHA:156
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Scol... ORPHA:2635
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Schneckenbecken Dysplasia
Short neck, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Fibular hypoplas... ORPHA:3144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure OMIM:619048
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Hypoxemia, Hypotension, Bradycardia, Tachycardia ORPHA:70587
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy OMIM:246900
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Atrioventricular Septal Defect 3
Midsystolic murmur, Cyanosis, Congestive heart failure, First degree atrioventricular block, Pulm... OMIM:600309
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Contractures of the joints of the lower limbs, Skeletal muscle atrophy OMIM:613710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Coxa valga, Hypoplastic vertebral bodies OMIM:601370
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Lethargy, Ventricular septal defe... ORPHA:49827
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pu... ORPHA:1461
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... ORPHA:628
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Genu varum, Cone-shaped epiphysis, Scoliosis, Irregular carpal bones, Abnormality of femoral epip... ORPHA:750
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Stillbirth OMIM:265880
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Lethargy, Cardiomegaly OMIM:600649
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy OMIM:614299
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Hypoplastic iliac wing, Scoliosis, Vertebral fusi... ORPHA:93315
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... OMIM:618641
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Short neck, Vertebral compression fract... ORPHA:93352
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Lethargy OMIM:618120
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Hypoplastic vertebral bodies, Platyspondyly, Abnormality of the metaphysis, Irregular vertebral e... ORPHA:1782
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Cryptorchidism, Thoracic platyspondyly, 11 pairs o... OMIM:108720
Greenberg Dysplasia
Hypoplastic vertebral bodies, 11 pairs of ribs, Pancreatic islet-cell hyperplasia, Micrognathia, ... OMIM:215140
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Small cervical vertebral bodies, Abnormal 5th metacarpal morphology, Cervical spin... ORPHA:397715
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Acrodysostosis With Multiple Hormone Resistance
Hypoplastic vertebral bodies, Cryptorchidism, Cone-shaped epiphysis, Narrow vertebral interpedicu... ORPHA:280651
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Coma,... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Cyanosis, Right ventricular dilatation, Unroofed coronary sinus, Systol... ORPHA:99104
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Fibrochondrogenesis 1
Hypoplastic ischia, Short neck, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, S... OMIM:228520
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly, Lethargy OMIM:619064
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Generalized amyotrophy, Hyper... OMIM:300257
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Arrhythmia, Skeletal muscle atrophy, Coma, Loss of consciousness, Hepatome... ORPHA:42
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Coma, Hepatomegaly, Lethargy, Cardiomegaly OMIM:255120
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Flared iliac wing, Platyspondyly, Acetabular dysplasia, Macroglossi... ORPHA:79255
Cyclic Vomiting Syndrome
Cardiomyopathy, Lethargy OMIM:500007
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Death in infancy OMIM:617248
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Pulmonic stenosis, Pulmonary arterial hypertension, Chyloperi... ORPHA:2414
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Angina pectoris,... ORPHA:85451
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Hemochromatosis Type 2
Dilated cardiomyopathy, Lethargy ORPHA:79230
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Lumba... OMIM:146000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Lethargy OMIM:617105
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Death in adolescence, ... OMIM:605676
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short di... ORPHA:2163
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Hypoplastic vertebral bodies, Macr... OMIM:252940
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Loss of consciousness, Hepatomegaly, Lethargy, Palpitations, Hypoglycemic coma, Synco... ORPHA:324575
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Coma, Lethargy, Cardiomyopathy ORPHA:79312
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Death in infancy OMIM:614498
Coronary Arterial Fistula
Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, Patent ductus... ORPHA:2041
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Arrhythmia, Palpitations, Syncope, Tachycardia ORPHA:464453
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Lethargy OMIM:619386
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension, Lethargy OMIM:605711
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Letha... OMIM:201475
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Delayed pubic bone ossification,... OMIM:184250
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Coronal cleft vertebrae, Genu varum, Abnormal ilium morpholo... ORPHA:93314
Glut1 Deficiency Syndrome 1
Lethargy, Confusion, Paroxysmal lethargy OMIM:606777
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Aortic regurgitation, Arrhythmia, Co... ORPHA:75566
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Lethargy ORPHA:324581
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Lethargy OMIM:215600
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fra... ORPHA:444013
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Cardiomyopathy, Hepatomegaly, Coma ORPHA:27
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Cyanosis, Systolic heart m... ORPHA:555874
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Camptodactyly of finger, Truncal obe... ORPHA:2928
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis OMIM:230500
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Genu varum, Abnormality of pelvic girdle bone morphology, Me... OMIM:250460
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Glycerol Kinase Deficiency
Muscular dystrophy, Coma, Loss of consciousness, Lethargy, Myopathy OMIM:307030
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Acrocyanosis, Atrioventricular block OMIM:614407
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Testicular atrophy, Ameli... OMIM:601163
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Gastroesophageal reflux, Postaxial polydactyly, Kyphoscoliosi... OMIM:612913
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Glutamine Deficiency, Congenital
Bradycardia, Neonatal death, Erythema OMIM:610015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Coma, Tachycardia, Lethargy ORPHA:276608
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic pelvis, Hypoplastic vertebral bodies OMIM:114620
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodie... ORPHA:2370
Spondylometaphyseal Dysplasia, Kozlowski Type
Halberd-shaped pelvis, Short neck, Delayed ossification of carpal bones, Irregular capital femora... OMIM:184252
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Variegate Porphyria
Tachycardia, Cutaneous photosensitivity OMIM:176200
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Right ventricular hypertrophy, Tachycardia, Left ventricular h... ORPHA:335
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Short ribs, Epiphyseal stippling, Congenital hip dislocation, Hypoplastic s... OMIM:308050
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Lethargy OMIM:616483
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Coma, Splenomegaly, Hepatomegaly, Lethar... ORPHA:99745
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Coma, Hepatomegaly, Lethargy, Cardiomyopathy OMIM:251000
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Hypoplastic left... ORPHA:3426
Symptomatic Form Of Hemochromatosis Type 1
Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart failure, Sple... ORPHA:465508
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Coma, Loss of consciousness, Confusion, Lethargy, Hepatomegaly, Cerebral ischemia, De... ORPHA:927
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Ventricular tachycardia, Arrhythmia, Coma, Hypotension, Hepatomegaly, Lethargy, C... ORPHA:159
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Arrhythmia, Congestive heart failure, Lethargy, Myopathy OMIM:609015
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Myocardial infarcti... ORPHA:2038
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Breath-Holding Spells
Cyanosis OMIM:607578
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Absence Of The Pulmonary Artery
Cyanosis, Cardiomegaly, Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Patent du... ORPHA:980
Multiple Sulfatase Deficiency
Broad hallux, Hypoplastic vertebral bodies, Broad thumb OMIM:272200
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cardiomyopathy, Hepatomegaly, Lethargy OMIM:614922
Apnea, Central Sleep
Cyanosis OMIM:207720
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Pulmonic stenosis, Lethargy OMIM:143880
Scrub Typhus
Reduced consciousness/confusion, Hypotension, Splenomegaly, Myocarditis, Lethargy ORPHA:83317
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Persistent fetal circulation... OMIM:618775
Atelosteogenesis Type Ii
Cervical kyphosis, Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Tibial torsio... ORPHA:56304
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Glycine Encephalopathy
Lethargy OMIM:605899
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Hip dysplasia, Abnormality of epiphysis morphology, Abnormalit... ORPHA:1509
Currarino Syndrome
Hypoplasia of penis, Male pseudohermaphroditism, Sacrococcygeal teratoma, Abnormal intestine morp... ORPHA:1552
Brachydactyly, Abnormality of pelvic girdle bone morphology, Spondylolysis, Osteolytic defects of... OMIM:265800
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Excessive daytime somnolence, Lethargy, Ventricular septal defect,... ORPHA:276432
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Vertebral hypoplasia, Missing ribs, Anterior pituitary hypoplasia,... OMIM:206900
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Propionic Acidemia
Cerebellar hemorrhage, Limb hypertonia, Coma, Hepatomegaly, Lethargy, Cardiomyopathy OMIM:606054
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy ORPHA:71277
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Lethargy OMIM:610006
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Supravalvula... ORPHA:439232
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Arrhythmia, Patent ductus arteriosus, Congestive heart failure, ... ORPHA:1880
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Abnormality of pelvic girdle bone morphology, Rhizomelia, Micrognathia, Scoliosis, F... OMIM:222765
Diamond-Blackfan Anemia 1
Absent thumb, High palate, Short neck, Colon cancer, 11 pairs of ribs, Triphalangeal thumb, Parti... OMIM:105650
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Narrow iliac wing, Irregular carpal bones, Genu valgum, Hip dislocation, High palate, Shortening ... OMIM:226980
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... ORPHA:93284
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, ST segment elevation, Ventricular fibrillation, Ventricular tachy... ORPHA:263297
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:3304
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Atelosteogenesis Type Iii
Coronal cleft vertebrae, High palate, Vertebral hypoplasia, Absent humerus, Absent radius, Microg... ORPHA:56305
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Pa... OMIM:617478
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Decreased body weight, Short neck, Short metacarpa... OMIM:615222
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Lethargy OMIM:614857
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Bradycardia, Secundum atrial septal defect, Cerebral hemorrhage OMIM:617397
Severe Canavan Disease
Lethargy ORPHA:314911
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension OMIM:252320
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Hypoplasia of the odontoid process, Platyspondyly, Micrognathia, Tongue-l... OMIM:264180
Visceral Steatosis, Congenital
Neonatal death, Coma, Myocardial steatosis, Lethargy OMIM:228100
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Hepatomegaly, Lethargy ORPHA:28
Asbestos Intoxication
Cyanosis, Hypoxemia, Oxygen desaturation on exertion, Hepatojugular reflux, Right ventricular fai... ORPHA:2302
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Fibular hypoplasia, Short ph... ORPHA:79106
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Lethargy OMIM:237310
Aarskog-Scott Syndrome
Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone level, Scoliosis, Elevated... OMIM:305400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Atrial se... OMIM:616749
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Necrotizing Enterocolitis
Hypotension, Lethargy, Abnormal heart morphology, Bradycardia, Shock ORPHA:391673
Citrullinemia Type I
Torticollis, Coma, Loss of consciousness, Lethargy ORPHA:247525
Multiple Carboxylase Deficiency
Lethargy, Coma, Limb muscle weakness ORPHA:148
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, Slender build, Cryptorchidism, Increased serum estradiol, Increased... ORPHA:3455
Familial Thyroid Dyshormonogenesis
Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cardiomyopathy, Lethargy OMIM:618321
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Micr... OMIM:113000
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Thyroid Dyshormonogenesis 1
Lethargy, Macroglossia OMIM:274400
Eisenmenger Syndrome
Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle branch bloc... ORPHA:97214
Methylcobalamin Deficiency Type Cble
Drowsiness, Excessive daytime somnolence, Loss of consciousness, Lethargy, Lower limb hypertonia,... ORPHA:2169
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Dilatation of the ventricular cavity, Effort-induced polymorphi... OMIM:600996
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Congestive heart failure, Atrial septal ... ORPHA:99050
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Short ... OMIM:304950
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Illum Syndrome
Bradycardia OMIM:208155
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Atrial septal defect, Sudden cardiac death, Right b... OMIM:224700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Evans Syndrome
Syncope, Epistaxis, Lethargy ORPHA:1959
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Left ventricular hypertrophy, Reduced ejection fraction, Arrhythmia, Ragg... ORPHA:254892
Hajdu-Cheney Syndrome
Brachydactyly, Bowing of the long bones, Short neck, Kyphosis, Delayed puberty, Intestinal malrot... ORPHA:955
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly, Hepatomegaly, Cardiomyopathy,... OMIM:235200
Tachycardia, Hypertension OMIM:602079
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short neck, Short ribs, Abnormality of fibula morph... ORPHA:1803
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Increased muscle lipid content, Hepatomegaly... OMIM:608836
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Dyggve-Melchior-Clausen Disease
Genu varum, Rhizomelic arm shortening, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Sc... OMIM:223800
Moebius Syndrome
Brachydactyly, Clinodactyly, Hypogonadotropic hypogonadism, Abnormality of pelvic girdle bone mor... OMIM:157900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Femoral-Facial Syndrome
Missing ribs, Cryptorchidism, Micrognathia, Scoliosis, Hemivertebrae, Short fifth metatarsal, Sho... OMIM:134780
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Missing ribs, Short neck, Abnormal form ... ORPHA:1834
Fluctuations in consciousness, Reduced consciousness/confusion, Coma, Lethargy, Palpitations ORPHA:97279
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Pla... OMIM:271650
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Hepatomegaly, Lethargy, Cerebral hemorrhage, Epistaxis ORPHA:99828
Isovaleric Acidemia
Cerebellar hemorrhage, Coma, Lethargy OMIM:243500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Camptodactyly Syndrome, Guadalajara, Type I
Bifid uvula, Fibular hypoplasia, Twelfth rib hypoplasia, Hypoplastic iliac wing, Hallux valgus, B... OMIM:211910
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308700
Sepsis In Premature Infants
Cyanosis, Petechiae, Hypotension, Jaundice, Bradycardia, Tachycardia, Purpura ORPHA:90051
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Lethargy OMIM:233910
Neuraminidase Deficiency
Skeletal muscle atrophy, Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Campomelic Dysplasia
Absent sternal ossification, Narrow iliac wing, Poorly ossified cervical vertebrae, Fibular hypop... OMIM:114290
Meningococcal Meningitis
Reduced consciousness/confusion, Drowsiness, Hypotension, Lethargy, Shock ORPHA:33475
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy OMIM:618226
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, High palate, Thoracic kyphosis, Short neck, Short femoral nec... OMIM:300232
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary insufficiency, Congestive heart... ORPHA:2326
Canavan Disease
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy ORPHA:141
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tricuspid re... OMIM:618652
Cartilage-Hair Hypoplasia
Abnormality of pelvic girdle bone morphology, Short palm, Hypoplasia of the odontoid process, Nar... OMIM:250250
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Hidrotic ectodermal dysplasia, Paroxysmal supraventricular tachycardia OMIM:601375
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Atrial septal defect, Hypertension, Ventricular septal defect, Tachycardia OMIM:613870
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Confusion, Lethargy, Prolonged QT interval ORPHA:71212
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Heart murmur, Acrocyanosis ORPHA:1867
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Hepatomegaly, Lethargy ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Phocomelia, Schinzel Type
Cryptorchidism, Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Cleft palate,... ORPHA:2879
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Pulmonary Capillary Hemangiomatosis
Cyanosis, Diffuse alveolar hemorrhage, Hypoxemia, Elevated pulmonary artery pressure, Hemothorax,... ORPHA:199241
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Hyperinsulinism Due To Hnf4A Deficiency
Drowsiness, Coma, Hepatomegaly, Lethargy, Tachycardia ORPHA:263455
Riboflavin Deficiency
Lethargy OMIM:615026
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Coma, Hepatomegaly, Lethargy OMIM:229700
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Death in infancy, Neonatal death, Cyanosis OMIM:265120
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Larsen Syndrome
Cervical kyphosis, Multiple carpal ossification centers, Bipartite calcaneus, Short metacarpal, S... OMIM:150250
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Léri-Weill Dyschondrosteosis
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... ORPHA:240
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Abnormality of visual evoked potentials, Optic nerve misrouting, Depigme... ORPHA:352731
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, High palate, Epiphyseal stippling, Hypoplastic cervical vertebrae,... ORPHA:35173
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Truncus Arteriosus
Cyanosis, Cardiomegaly, Tetralogy of Fallot, Abnormal heart valve morphology, Aortic regurgitatio... ORPHA:3384
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Osteogenesis Imperfecta, Type V
Abnormality of pelvic girdle bone morphology, Vertebral wedging, Anterior radial head dislocation... OMIM:610967
Harrod Syndrome
High palate, Abnormality of pelvic girdle bone morphology, Kyphosis, Cryptorchidism, Arachnodacty... ORPHA:2115
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials OMIM:616648
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Decreased fertility, Testicular atrophy OMIM:313200
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Truncus arteriosus OMIM:228940
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia, Coma, Lethargy ORPHA:83600
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Cryptorchidism, Clinodactyly of the 5th finger, Dislocated radial head, Congenital h... OMIM:619512
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia,... ORPHA:308552
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Coma, Confusion, Lethargy OMIM:238970
Cardiac Diverticulum
Premature ventricular contraction, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular ... ORPHA:1686
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Abnormal heart morphology, Lethargy ORPHA:79284
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Abnormal retinal nerve fiber layer morphology, Temporal ... ORPHA:1215
Spondyloepimetaphyseal Dysplasia, X-Linked
Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses, Prominent styloid process... OMIM:300106
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Ovoid vertebral bodies, Flared iliac wing, Split hand, Hypoplasia of th... OMIM:253200
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Cutaneou... OMIM:601829
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Endosteal Hyperostosis, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, Thickene... OMIM:144750
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Congestive... ORPHA:183
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Acute Interstitial Pneumonia
Cyanosis, Hypertension, Hypoxemia, Pericardial effusion ORPHA:79126
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
White-Sutton Syndrome
Brachydactyly, High palate, Bifid uvula, Short neck, Gastroesophageal reflux, Obesity, Micrognath... OMIM:616364
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Acrocyanosis, Shock, Internal hemorrhage ORPHA:49566
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Coma, Hypotension, Hepatomegaly, Lethargy, Hypoglycemic coma ORPHA:20
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Dopa-Responsive Dystonia
Lethargy ORPHA:255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Subdural hemorrhage, Hypertension, Hematemesis, ... ORPHA:99827
Isolated Complex I Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Lethargy ORPHA:2609
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension, Confusion, Lethargy ORPHA:36238
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Avascular necrosis of the capital femoral epiphysis, Short neck, Cervical subluxation, Hypoplasia... OMIM:184100
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Erythema, Tachycardia OMIM:615821
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Ecchymosis, Purpura, Hypotension, Myocarditis, Bradycardia, Shock ORPHA:319213
Hepatomegaly, Lethargy ORPHA:352
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Firm muscles, Splenomegaly, Hepatomegaly, ... OMIM:232300
Spondyloepiphyseal Dysplasia Congenita
Flattened epiphysis, Atlantoaxial instability, Short neck, Ovoid vertebral bodies, Kyphosis, Bifi... OMIM:183900
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Coma, Splenomegal... OMIM:252010
Classic Galactosemia
Hepatomegaly, Lethargy ORPHA:79239
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure, Limb muscle weakness OMIM:619259
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Codas Syndrome
Coronal cleft vertebrae, Rectovaginal fistula, Delayed ossification of carpal bones, Absent epiph... OMIM:600373
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Primary Pulmonary Hypoplasia
Cyanosis, Hypoxemia, Dextrocardia, Secundum atrial septal defect ORPHA:2257
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Coma, Confusion, Loss of consciousness, Lethargy, Myocardial necrosis, Facial palsy ORPHA:68
Meier-Gorlin Syndrome 1
Absent sternal ossification, Genu varum, Cryptorchidism, Clinodactyly of the 5th finger, Microgna... OMIM:224690
Susac Syndrome
Confusion, Lethargy ORPHA:838
Encephalopathy, Ethylmalonic