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Gene: Hdac2 MGI:1097691

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Gene Summary

Name:
histone deacetylase 2
Synonyms:
Yy1bp,  D10Wsu179e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hdac2em1(IMPC)Kmpc HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Coxa vara, Absent spinou... OMIM:601344
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Caudal Regression Syndrome
Maternal diabetes, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplas... ORPHA:3027
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Flushing OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy OMIM:618683
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Hypoplastic ilia, Mesomelic/rhizomelic... ORPHA:2347
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in infancy, Bradycardia, Death in childhood OMIM:620265
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,... OMIM:602557
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Ethanolaminosis
Cardiomegaly OMIM:227150
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Lethargy ORPHA:254857
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Let... OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Cleft pala... ORPHA:2916
Opsismodysplasia
Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop... ORPHA:2746
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Flared metaphysis, Abnormal... OMIM:224300
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Gm1-Gangliosidosis, Type Ii
Coxa valga, Protruding tongue, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Sco... OMIM:230600
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... OMIM:613628
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Lethargy, Cardiomyopathy ORPHA:26792
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Neonatal epiphyseal stippling, Sh... OMIM:101800
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... ORPHA:3144
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Lethargy, Hypertrophic cardiomyop... OMIM:613561
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Cleft pal... ORPHA:2635
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebral wedging, Genu valgum, Decreased anteri... ORPHA:3101
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Diastrophic Dysplasia
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Micro... ORPHA:628
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension ORPHA:70587
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Lethargy OMIM:600649
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga OMIM:601370
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Cardiomyopathy, Mitral regurgitat... OMIM:212140
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy OMIM:619048
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy OMIM:613710
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... ORPHA:1461
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, High palate, Hypoplastic iliac wing, Abnormal vertebral mor... ORPHA:93315
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy OMIM:246900
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Greenberg Dysplasia
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... OMIM:215140
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Abnormal acetabulum morphology, Hypospadias, Supernumerary nippl... ORPHA:397715
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Pyknoachondrogenesis
Stillbirth OMIM:265880
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... OMIM:108720
Dysosteosclerosis
Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspondyly, Abnormal metaphysis m... ORPHA:1782
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Advanced ossification of carpal bones, Cleft palate, Glossoptosis, Short long bone, S... OMIM:620269
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276556
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Increased intervertebral space, Lumbar h... OMIM:256050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis, Lethargy, Ankle flexion contracture OMIM:618120
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic c... ORPHA:156
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Gm1 Gangliosidosis Type 1
Hypoplastic vertebral bodies, Macroglossia, Flared iliac wing, Short long bone, Platyspondyly, Be... ORPHA:79255
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Lethargy, Cardiomegaly OMIM:619064
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Gastroesophageal reflux, Hypoplastic cervical vertebrae, Vertebral hypoplasia,... ORPHA:79345
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276575
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy ORPHA:276580
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Congenital Pulmonary Lymphangiectasia
Cyanosis, Tricuspid regurgitation, Congestive heart failure, Chylopericardium, Pulmonic stenosis,... ORPHA:2414
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, ... ORPHA:93307
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Dilated cardiomyopathy ORPHA:79230
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Cyclic Vomiting Syndrome
Cardiomyopathy, Lethargy OMIM:500007
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ... OMIM:261740
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of... ORPHA:2163
Acquired Methemoglobinemia
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy, Hepatomegaly ORPHA:2394
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short neck, Ovoid thoracolumbar verteb... OMIM:252940
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Reduced left v... OMIM:201475
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Benign Samaritan Congenital Myopathy
Lethargy, Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Lethargy, A... ORPHA:42
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Death in infancy OMIM:616299
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypertrophic cardiomyopathy OMIM:619386
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... OMIM:604377
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Cardiomyopathy, Lethargy, Hepatomegaly ORPHA:79312
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of ... ORPHA:1802
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Bradycardia, Atrioventricular block OMIM:614407
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Gastroes... OMIM:612913
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Amelia, Testi... OMIM:601163
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous... ORPHA:555874
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Perching Syndrome
Cyanosis OMIM:617055
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Internal hemorrhage... ORPHA:335
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Lethargy OMIM:616483
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... OMIM:308050
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Lethargy, Cardiomegaly OMIM:255120
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus ar... ORPHA:3427
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the odontoid proce... OMIM:184252
Glutamine Deficiency, Congenital
Neonatal death, Erythema, Bradycardia OMIM:610015
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Cardiomyopathy, Stillbirth, Neonatal death, Lethargy OMIM:614922
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... ORPHA:2370
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormal femur mor... ORPHA:429
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyopathy, Skeletal myopa... ORPHA:746
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ... ORPHA:465508
Idiopathic Congenital Hypothyroidism
Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Lethargy, Hepatomegaly ORPHA:27
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hy... ORPHA:3426
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Isolated Atp Synthase Deficiency
Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy, Lethargy, Arrhythmia OMIM:609015
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Hepatomegaly, Tachycardia, Ventricular se... ORPHA:26793
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature, Lethargy OMIM:201470
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad hallux, Broad thumb OMIM:272200
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... ORPHA:2038
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Lethargy OMIM:614299
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Cardiomegaly, Congestiv... ORPHA:980
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... ORPHA:56304
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Breath-Holding Spells
Cyanosis OMIM:607578
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy ORPHA:324575
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Lethargy, Arr... ORPHA:99745
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Petechiae OMIM:617397
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Left atrial enlargement, Ventricular septa... OMIM:212093
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Lethargy, Arr... ORPHA:159
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Glycine Encephalopathy 1
Lethargy OMIM:605899
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... OMIM:206900
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Generalized amyotrophy OMIM:610006
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Propionic Acidemia
Hepatomegaly, Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Limb hypertonia OMIM:606054
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do... ORPHA:3304
High Altitude Pulmonary Edema
Hypoxemia, Tachycardia, Cyanosis ORPHA:330012
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... ORPHA:239
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Syndac... OMIM:305400
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia ORPHA:276608
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hyperlo... OMIM:226980
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Bradycardia OMIM:614498
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Micrognathia, Short neck, Hypoplasia of... OMIM:264180
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... OMIM:615222
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Severe Canavan Disease
Lethargy ORPHA:314911
Pontocerebellar Hypoplasia, Type 6
Lethargy, Elbow contracture OMIM:611523
Diamond-Blackfan Anemia 1
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... OMIM:105650
Scrub Typhus
Splenomegaly, Myocarditis, Lethargy, Hypotension ORPHA:83317
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Bipolar affective disorder, Facial palsy, Quadriceps muscle weakness, Ragged... ORPHA:254892
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Lethargy, Hepatomegaly OMIM:251000
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Tetralogy of Fallot OMIM:250620
Ogden Syndrome
Torticollis, Ventricular septal defect, Cardiogenic shock, Arrhythmia, Lethargy ORPHA:276432
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Ventr... ORPHA:137675
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Asbestos Intoxication
Cyanosis, Right ventricular failure, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Hepatojugular... ORPHA:2302
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Currarino Syndrome
Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit... ORPHA:1552
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic vertebral bodies, ... ORPHA:3455
Necrotizing Enterocolitis
Shock, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy ORPHA:391673
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... ORPHA:1988
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly OMIM:269920
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Cyanosis, Ventricular septal defect, Congestive heart failure, Patent ductus... ORPHA:99050
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Lethargy OMIM:614857
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Limb hypertonia OMIM:233910
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Dilated cardiomyopathy, Bradycardia OMIM:610768
Familial Thyroid Dyshormonogenesis
Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Evans Syndrome
Lethargy, Syncope, Epistaxis ORPHA:1959
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Intestinal malrotation, Bowing ... ORPHA:955
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Tricuspid regurgitation, Cardiomegaly, Limb hypertonia OMIM:620306
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Pulmonary arterial hypertension, Facial paralysis, Lethargy OMIM:605711
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy ORPHA:28
Illum Syndrome
Bradycardia OMIM:208155
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... OMIM:235200
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Hemivertebrae, Gastroesophageal reflux,... OMIM:134780
Moebius Syndrome
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Short neck, Clinodactyly,... OMIM:157900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Elbow fle... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Lethargy OMIM:618226
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction OMIM:253250
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Lethargy ORPHA:99828
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone m... ORPHA:1803
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Developmental And Epileptic Encephalopathy 41
Lethargy, Flexion contracture OMIM:617105
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Short neck, Missing ribs, Anorectal anomaly, Tracheoesophageal fistula, Abnormal fo... ORPHA:1834
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Cerebral ischemia, Lethargy ORPHA:927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Lethargy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... ORPHA:2326
Sepsis In Premature Infants
Tachycardia, Cyanosis, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura ORPHA:90051
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Limb muscle weakness OMIM:619259
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Heart murmur, Abnormal heart morphology ORPHA:1867
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Larsen Syndrome
Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Cryptorchidism, Accessor... OMIM:150250
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea... ORPHA:35173
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Bradycardia OMIM:620351
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Riboflavin Deficiency
Lethargy OMIM:615026
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Pulmonary arterial hypertension, Cyanosis, Death in infancy OMIM:265120
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:616648
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Micrognathia, Cryptorchidism, Long fingers, Hypoplastic coccygeal ver... OMIM:619512
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Isovaleric Acidemia
Lethargy, Cerebellar hemorrhage OMIM:243500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
N-Acetylglutamate Synthase Deficiency
Lethargy OMIM:237310
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Methylcobalamin Deficiency Type Cble
Hypertension, Lower limb hypertonia, Lethargy ORPHA:2169
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Citrullinemia Type I
Lethargy, Torticollis ORPHA:247525
Harrod Syndrome
Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal shoulder morphology, Abnormal pel... ORPHA:2115
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... OMIM:610967
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Ventricular septal defect, Abnormal heart valve morp... ORPHA:3384
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Epiphyseal stippling, Abnor... OMIM:222765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Lethargy ORPHA:289916
Pulmonary Capillary Hemangiomatosis
Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pericardial effusion, Hypoxemia... ORPHA:199241
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Coxa vara, ... OMIM:300232
White-Sutton Syndrome
Micrognathia, Short neck, Obesity, Cleft palate, Hypoplastic cervical vertebrae, Gastroesophageal... OMIM:616364
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Abnormal retinal nerve fiber layer morphology, Optic atr... ORPHA:1215
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Lethargy, Abnormal heart morphology ORPHA:79284
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Classic Galactosemia
Hepatomegaly, Lethargy, Depression ORPHA:79239
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Cutis marmorata, Myocardial infar... ORPHA:183
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Pericardial effusion, Cyanosis ORPHA:79126
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Lethargy OMIM:229700
Primary Pulmonary Hypoplasia
Hypoxemia, Secundum atrial septal defect, Cyanosis, Dextrocardia ORPHA:2257
Isolated Complex I Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Lethargy ORPHA:2609
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Malabsorption,... OMIM:250250
Meningococcal Meningitis
Shock, Lethargy, Hypotension ORPHA:33475
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Lethargy OMIM:238970
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Encephalitis Lethargica
Upper limb muscle weakness, Lethargy, Bradycardia ORPHA:83600
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Cardiac arrest, Dilated cardiomyopathy, Apathy, Hypotension, Lethargy ORPHA:20
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Le... OMIM:620233
Insulinoma
Lethargy, Palpitations ORPHA:97279
Lujo Hemorrhagic Fever
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension, Ecchymosis, Purpura ORPHA:319213
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Lethargy ORPHA:263455
Susac Syndrome
Lethargy, Apathy ORPHA:838
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Torticollis, Hypotension, Limb hypertonia OMIM:608643
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... OMIM:615709
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Beck-Fahrner Syndrome
Depression, Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly ORPHA:99931
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension OMIM:208000
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Splenomeg... OMIM:614866
Staphylococcal Necrotizing Pneumonia
Shock, Lethargy, Hypotension ORPHA:36238
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Short neck, Metaphys... OMIM:253000
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Patent ductus arteriosus, Jaundice, Bradycardia, Neonatal death OMIM:617248
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Ragged-red muscle fibers, Concentric hypertr... OMIM:252010
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Congestive heart failur... ORPHA:31826
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly OMIM:611590
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Atrial septal defect, Hepatomegaly, Dextrocardia, Lethargy OMIM:277380
Meier-Gorlin Syndrome 1
Micrognathia, Flat glenoid fossa, Hemivertebrae, Cutaneous finger syndactyly, Gastroesophageal re... OMIM:224690
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly OMIM:616897
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger... OMIM:616007
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Short metacarpal, Diabetes mellitus, Small for gestational age, Brachydactyly, Rhizomelia, Hypopl... OMIM:614813
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis ORPHA:896
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Congenital Disorder Of Glycosylation, Type Ig
Lethargy, Patent foramen ovale OMIM:607143
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Iniencephaly
Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Mandibular aplasia, Anal atresia,... ORPHA:63259
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Meckel Syndrome 14
Mitral regurgitation, Tricuspid regurgitation, Cyanosis, Single ventricle OMIM:619879
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... ORPHA:95430
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... ORPHA:1788
Tetrasomy 5P
Congestive heart failure, Cyanosis, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Lethargy OMIM:201450
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension, Lethargy OMIM:215600
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Intestinal malrotation, Bifi... OMIM:258040
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hyperlordosis, Metap... OMIM:253010
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Abnormal form of the vertebral bodies, Coronal clef... ORPHA:1458
Sirenomelia
Absence of the sacrum, Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Ambiguous gen... ORPHA:3169
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, High, na... ORPHA:1452
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Facial palsy OMIM:607483
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ... OMIM:166210
Sandhoff Disease
Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia OMIM:160900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Bradycardia, Lethargy, Depression ORPHA:90674
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Esophageal atresia, Cryptorchidism, Hypoplasia of the radius... ORPHA:3412
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Lethargy, Arrhythmia, Facial palsy ORPHA:68
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Cholera
Lethargy, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Jaundice, Hypovolemia, Capillary leak, Subconjunctival hemorrha... ORPHA:99826
Dravet Syndrome
Cyanotic episode ORPHA:33069
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sciatic notc... ORPHA:508533
Renal Hypoplasia, Bilateral
Hypertension, Lethargy ORPHA:97362
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Ocular albinism, Abnormal optic... ORPHA:79431
Holocarboxylase Synthetase Deficiency
Lethargy ORPHA:79242
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy, Neonatal death, Arthrogrypo... OMIM:608013
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Dyspha... OMIM:222300
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Thoracolumbar kyph... OMIM:253220
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... OMIM:272460
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... OMIM:268310
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Lethargy OMIM:210210
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Abnormality of t... OMIM:123000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:601152
Combined Oxidative Phosphorylation Deficiency 39
Death in childhood, Sinus bradycardia OMIM:618397
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Ebola Hemorrhagic Fever
Melena, Lethargy, Gastrointestinal hemorrhage ORPHA:319218
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Trichinellosis
Retinal hemorrhage, Lethargy, Apathy, Facial palsy ORPHA:863
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Elb... OMIM:602782
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Lethargy, Flexion contracture ORPHA:398069
Hydranencephaly
Lethargy, Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage ORPHA:2177
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Spinal canal stenosis, Trapezoidal distal femor... OMIM:307800
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wave, Abnor... ORPHA:466650
Mucolipidosis Ii Alpha/Beta
Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid proc... OMIM:252500
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Maple Syrup Urine Disease
Lethargy OMIM:248600
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly ORPHA:97297
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Lethargy OMIM:201100
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Genetic Transient Congenital Hypothyroidism
Macroglossia, Lethargy ORPHA:226316
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... OMIM:617022
Currarino Syndrome
Absence of the sacrum, Anal stenosis, Hemisacrum, Septate vagina, Perianal abscess, Gastrointesti... OMIM:176450
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy OMIM:256600
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Citrullinemia Type Ii
Hepatomegaly, Mania, Lethargy ORPHA:247585
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Lower limb muscle weakness ORPHA:395
Primary Hyperoxaluria
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... ORPHA:416
Marshall-Smith Syndrome
Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterior... OMIM:602535
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ... OMIM:302960
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Hemivertebrae... ORPHA:1112
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral... OMIM:166600
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... OMIM:607634
Late-Onset Isolated Acth Deficiency
Lethargy, Orthostatic hypotension, Hypotension ORPHA:199299
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia OMIM:223900
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Alobar Holoprosencephaly
Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat... ORPHA:93924
Semilobar Holoprosencephaly
Flexion contracture, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apat... ORPHA:220386
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t... OMIM:271665
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... ORPHA:221
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Oral leukoplakia OMIM:618165
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Jaundice, Capillary leak, Reduced left ventricul... ORPHA:99829
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Biotinidase Deficiency
Splenomegaly, Hepatomegaly, Lethargy OMIM:253260
Posterior Urethral Valve
Hypertension, Lethargy ORPHA:93110
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Biotinidase Deficiency
Lethargy, Limb muscle weakness ORPHA:79241
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Lethargy OMIM:251110
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla... OMIM:259900
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Male pseudohermaphroditism, Abnormal shoulder mor... ORPHA:1422
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ... ORPHA:1328
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Abnormal heart morphology ORPHA:268943
Medulloblastoma
Lethargy, Cerebellar hemorrhage ORPHA:616
Transcobalamin Ii Deficiency
Hepatomegaly, Lethargy OMIM:275350
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia ORPHA:1764
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonary vascular res... ORPHA:60025
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Pulmonary arterial hypertension, Cyanosis OMIM:610913
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Fragile skin, Bradycardia, Renal tubular epithelial necrosis ORPHA:79404
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Hurler Syndrome
Hypoplasia of the femoral head, Coxa valga, Short neck, Hypoplasia of the odontoid process, Metap... OMIM:607014
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Lethargy OMIM:251100
Bladder Exstrophy And Epispadias Complex
Anteriorly placed anus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid clitoris OMIM:600057
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials ORPHA:1933
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy ORPHA:485421
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia, Lethargy OMIM:218700
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Glycerol Kinase Deficiency
Myopathy, Muscular dystrophy, Lethargy OMIM:307030
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy ORPHA:79330
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Diamond-Blackfan Anemia
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Lethargy, Abnormality... ORPHA:124
Choanal Atresia
Cyanosis ORPHA:137914
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:52368
Congenital Myasthenic Syndrome
Cyanosis ORPHA:590
Sim1-Related Prader-Willi-Like Syndrome
Lethargy ORPHA:398079
Presynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98914
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Lethargy OMIM:617156
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Prolonged neonatal jaundice ORPHA:226307
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Leg muscle stiffness, Lethargy, Hypomimic face ORPHA:306674
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow... OMIM:245600
Lesch-Nyhan Syndrome
Testicular atrophy, Hip dislocation, Dysphagia OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Cryptorchidism, Kyphosis, Slender toe, Cle... ORPHA:3063
Myasthenia Gravis
Raynaud phenomenon, Acrocyanosis ORPHA:589
Poems Syndrome
Pericardial effusion, Pulmonary arterial hypertension, Acrocyanosis ORPHA:2905
Tarp Syndrome
Atrial septal defect, Cyanosis, Tetralogy of Fallot ORPHA:2886
Citrullinemia, Classic
Hepatomegaly, Lethargy OMIM:215700
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Congenital Tracheal Stenosis
Ventricular septal defect, Patent ductus arteriosus, Cyanosis, Hypoplastic left heart ORPHA:141127
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper... ORPHA:48435
Rh Deficiency Syndrome
Hypoxemia, Tachycardia, Miscarriage, Jaundice ORPHA:71275
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy ORPHA:35069
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am... OMIM:157640
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... ORPHA:581
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy... OMIM:130650
Cardiac-Urogenital Syndrome
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Hereditary Fructose Intolerance
Hepatomegaly, Lethargy ORPHA:469
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Esophageal Atresia
Cyanosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:1199
Lysinuric Protein Intolerance
Hepatosplenomegaly, Hepatomegaly, Lethargy, Abnormal heart morphology ORPHA:470
Isolated Epispadias
Anteriorly displaced urethral meatus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid c... ORPHA:93928
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Argininosuccinic Aciduria
Hepatomegaly, Lethargy OMIM:207900
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Friedreich Ataxia
Abnormality of visual evoked potentials, Optic atrophy OMIM:229300
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia OMIM:230000
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness ORPHA:14
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Ogden Syndrome
Torticollis, Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventr... OMIM:300855
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Optic atrophy OMIM:231550
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Cherry red spot of the macula, Optic atrophy ORPHA:206436
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Cleft palate,... OMIM:164210
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Lethargy ORPHA:415
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Lethargy OMIM:557000
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Lethargy OMIM:229600
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra... ORPHA:287
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Depression, Melena, Hypertension, Lethargy ORPHA:652
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype... ORPHA:51
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Cardiomegaly, Pericardial effusion,... ORPHA:51608
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge... OMIM:256040
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Decreased response to gr... ORPHA:273
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hypertension, Budd-Chiari syndrome, Lethargy ORPHA:447
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Ventricular septal defect, Cardiomegaly ORPHA:96191
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Short ... OMIM:261540
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Cardiomegaly, S... ORPHA:116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Overriding aort... ORPHA:904
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309271
Glycine Encephalopathy
Lethargy ORPHA:407
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... OMIM:619991
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Pigmentary retinopathy, Abno... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Optic atrophy, Hypermy... ORPHA:909
Pineoblastoma
Lethargy ORPHA:251909
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis ORPHA:293987
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Cockayne Syndrome B
Abnormality of visual evoked potentials, Pigmentary retinopathy, Optic atrophy OMIM:133540
Goodpasture Syndrome
Cyanosis, Pulmonary hemorrhage OMIM:233450
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Acrocyanosis ORPHA:285
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hdac2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hdac2.

No publications found that use IMPC mice or data for Hdac2.

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MGI Allele Allele Type Produced
Hdac2em1(IMPC)Kmpc Exon Deletion Mice
Hdac2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hdac2tm40006(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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