Not currently registered for phenotyping at IMPC

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

Gene Summary

histone deacetylase 2
Yy1bp,  D10Wsu179e

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hdac2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Hdac2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Endocardial fibrosis, Lef... OMIM:601493
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
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, Perimembranous ventricular septal... OMIM:618782
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Metaphyseal irregularity, Central vertebral hypoplasia, Limb... OMIM:602557
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Ataxia, Hypertrophic cardiomyopathy OMIM:618683
Paroxysmal Extreme Pain Disorder
Flushing, Tachycardia, Bradycardia OMIM:167400
Caudal Regression Sequence
Scoliosis, Cryptorchidism, Ambiguous genitalia, Maternal diabetes, Abnormal iliac wing morphology... ORPHA:3027
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Flexion contracture, Facial palsy, Myopathy, Cardiomyopathy OMIM:201470
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Small cervical vertebral bodies, Genu valgum, Cervical platyspondyly, ... OMIM:169170
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Reduced muscle carnitine level, Endocardial fibroelastosis, Excessive daytime som... OMIM:212140
Lethal Kniest-Like Dysplasia
Platyspondyly, Coronal cleft vertebrae, Mesomelic/rhizomelic limb shortening, Abnormality of the ... ORPHA:2347
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Genu varum, Hyperconvex v... OMIM:184255
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria i... OMIM:252011
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sandal gap, Abnormal pelvi... OMIM:215140
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc ... OMIM:618195
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Cardiomegaly OMIM:227150
Lethal Infantile Mitochondrial Myopathy
Lethargy, Cardiomyopathy ORPHA:254857
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cyanosi... ORPHA:1209
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, Irregular epiphyses, Cleft palate... OMIM:222600
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Lethargy, Cardiomyopathy, Dystonia ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Hypertrophic cardiomyopathy OMIM:618228
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormal form of the vertebral bodies, Kyphosis, Hemiverte... ORPHA:2916
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Richieri Costa-Da Silva Syndrome
Genu valgum, Beaking of vertebral bodies, Dysphagia, Decreased anterioposterior diameter of lumba... ORPHA:3101
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Br... ORPHA:2746
Hemochromatosis, Type 2A
Arrhythmia, Lethargy, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopath... OMIM:602390
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, ... ORPHA:294975
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Hepatomegaly, Drowsiness, Tachycardia, Loss o... ORPHA:276556
Scoliosis, Squared iliac bones, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Severe p... OMIM:258480
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Eleva... OMIM:101800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:246900
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Platyspondyly, Absent frontal sinuses, Progressive bowing of long bones, Short diaphyses, Short s... OMIM:224300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Kniest-Like Dysplasia, Lethal
Platyspondyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short diaphyses, Rhizomelia, Hy... OMIM:245190
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... ORPHA:2635
Schneckenbecken Dysplasia
Cryptorchidism, Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hypoplastic ... ORPHA:3144
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Hepatomegaly, Drowsiness, Tachycardia, Loss o... ORPHA:276575
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Progressive cervi... OMIM:135100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Syncope, Hepatomegaly, Drowsiness, Tachycardia, Loss o... ORPHA:276580
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy, Skeletal muscle atrophy OMIM:613710
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Arrhythmia, Lethargy, Sudden cardiac death, Hepatomegaly, Skeletal muscle atrophy, Loss of ... ORPHA:156
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dystonia, Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, A... OMIM:619167
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, ... OMIM:259270
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Coxa valga, Short distal phalanx of finger OMIM:601370
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Ventricular hypertrophy OMIM:619048
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Hypoxemia, Cyanosis, Bradycardia ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia, Hepatomegaly, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae... ORPHA:628
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Lethargy, Rhabdomyolysis, Gait imbalance OMIM:618120
Criss-Cross Heart
Abnormal mitral valve morphology, Ventricular septal defect, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Lethargy, Atrial septal defect, Ventricular septal defect, Congest... ORPHA:49827
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy OMIM:600649
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Metaphyseal irregularity,... ORPHA:93352
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Abnormal hip bone morphology, Abnormal shoulder morphology, Diaphyseal... ORPHA:363705
Stillbirth OMIM:265880
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Ataxia, Cardiomyopathy OMIM:500007
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Death in infancy, Bradycardia OMIM:616299
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Abnormality of the epiphysis of the femoral head, Hyp... OMIM:618641
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Platyspondyly, Irregular vertebral endplates, Coarse metaphyseal trabecularization, Abnormality o... ORPHA:1782
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Short finger, Flared femoral meta... OMIM:156530
Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Cryptorchidism, Short metatarsal, Short phalanx of finger, Pseudohypoparathyroidism, C... ORPHA:280651
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Death in adolescence, Ventricular tachycardia, Congestive heart failur... OMIM:605676
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Proximal femoral metaphyseal irregularity, Cervical spinal canal... ORPHA:397715
Fibrochondrogenesis 1
Platyspondyly, Posterior vertebral hypoplasia, Stillbirth, Rhizomelia, Hypoplastic scapulae, Camp... OMIM:228520
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Dystonia, Lethargy, Ataxia OMIM:618224
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, ... OMIM:212138
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Arrhythmia, Lethargy, Ataxia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal m... ORPHA:42
Lujo Hemorrhagic Fever
Coma, Lethargy, Cardiac arrest, Gastrointestinal hemorrhage ORPHA:319213
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Short distal phalanx of finger, Calcaneal epip... ORPHA:79345
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Developmental And Epileptic Encephalopathy 41
Inability to walk, Flexion contracture, Lethargy OMIM:617105
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial necrosis, Myocardial fibrosis, Wolff-Parkins... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Gm1 Gangliosidosis Type 1
Platyspondyly, Macroglossia, Broad long bone diaphyses, Flared iliac wing, Beaking of vertebral b... ORPHA:79255
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy, Cardiomegaly, Hepatomegaly OMIM:619064
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Short thumb, High palate, Short femoral neck, ... ORPHA:93307
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Bradycardia OMIM:617248
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Cryptorchidism, Micropenis, Esophageal atresia, Hemivertebrae, Vertebral fu... OMIM:206900
Carnitine Palmitoyltransferase I Deficiency
Coma, Arrhythmia, Lethargy, Hepatomegaly, Cardiomegaly OMIM:255120
Aplasia/hypoplasia of the extremities, Lumbar hyperlordosis, Short long bone, Flared metaphysis, ... OMIM:146000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Hepatomegaly, Splenomegaly, Cardiomyopathy ORPHA:79312
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Hemochromatosis Type 2
Dilated cardiomyopathy, Lethargy ORPHA:79230
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Cyanosis And Hepatic Disease
Cyanosis OMIM:219400
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypoplastic verteb... ORPHA:2163
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Abnormal cardiac ventricular function, Ataxia, Hepatomegaly, Cardiomyopathy ORPHA:2394
Variegate Porphyria
Cutaneous photosensitivity, Tachycardia OMIM:176200
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonic stenosis, Congestive heart failure, Pulmonary arterial hyperten... ORPHA:2414
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Hypoglycemic coma, Hepatomegaly, Drowsiness, Tachycardia, Loss of conscio... ORPHA:324575
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Sinus bradycardia, Ventricular septal defect OMIM:126320
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Delayed pubic bone ossification, Club-shape... OMIM:184250
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Bradycardia OMIM:614498
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Mitochondrial Trifunctional Protein Deficiency
Coma, Arrhythmia, Lethargy, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, ... ORPHA:746
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Bowing of the long bones,... ORPHA:1802
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Hypoxemia, Tachycardia, Cyanosis, Syncope ORPHA:464453
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia ORPHA:95717
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Hepatomegaly, Cardiomyopathy ORPHA:27
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hypertrophic cardiomyopathy OMIM:619386
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Truncal obesity, Ulnar deviation of finger, Brachydacty... ORPHA:2928
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Lethargy, Exercise-induced rhabdomyolysis, Sudden cardiac death, Hepat... OMIM:201475
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Metaphyseal cupping of metacarpals... OMIM:250460
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Amelia, Syndactyly, Testicular atrophy, Clinodactyly of t... OMIM:601163
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Hypertension OMIM:605711
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Glycerol Kinase Deficiency
Coma, Lethargy, Muscular dystrophy, Myopathy, Loss of consciousness OMIM:307030
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Kyphosis, Short neck, Hypoplastic vertebral bodies OMIM:230500
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Internally nucleated skeletal muscle fibers ORPHA:324581
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Atrioventricular block, Bradycardia OMIM:614407
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Postaxial polydactyly, Cleft palate, Kyphoscoliosis, Hypoplasia of the o... OMIM:612913
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Adrenal hypoplasia, Congenital hip disloca... OMIM:308050
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Cirrhosis, Familial
Pulmonary arterial hypertension, Lethargy, Hypertension OMIM:215600
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia, Erythema OMIM:610015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Tachycardia, Lethargy ORPHA:276608
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Hypoplastic pelvis OMIM:114620
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Coma, Arrhythmia, Lethargy, Gastrointestinal hemorrhage, Epistaxis, Ataxia, Hepatomegaly, Cardiac... ORPHA:99745
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Ataxia, Confusion, Drowsiness, Hepatomegaly, Cerebral ischemia, Loss of... ORPHA:927
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Sex reversal, Hypoplastic sca... OMIM:114290
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Congenital Fibrinogen Deficiency
Internal hemorrhage, Tachycardia, Right ventricular hypertrophy, Left ventricular hypertrophy, Su... ORPHA:335
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... ORPHA:93315
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Abnormality of the vert... ORPHA:239
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Cerebellar hemorrhage, Hepatomegaly, Cardiomyopathy OMIM:251000
Refsum Disease, Classic
Arrhythmia, Ataxia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Dystonia, Lethargy, Ataxia ORPHA:71277
Infantile Liver Failure Syndrome 2
Lethargy, Cardiomyopathy OMIM:616483
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly OMIM:618052
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Ventricular hypertrophy, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Decreased muscle mass, Lethargy, Elevated jugular venous pressure, Hepatomegaly, Cong... ORPHA:465508
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Arrhythmia, Lethargy, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Hepatomegaly, C... ORPHA:159
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of femur morphology, Tarsal synostosis, Abnormal form of the vertebra... ORPHA:3429
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Breath-Holding Spells
Cyanosis OMIM:607578
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lethargy, Rhabdomyolysis, Congestive heart failure, Dilated cardiomyopathy, Myopathy OMIM:609015
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Lethargy, Ventricular septal defect, Excessive daytime somnolence,... ORPHA:276432
Apnea, Central Sleep
Cyanosis OMIM:207720
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad thumb, Broad hallux OMIM:272200
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis, Lethargy OMIM:143880
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Lethargy, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Peri... ORPHA:26793
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Scrub Typhus
Lethargy, Hypotension, Reduced consciousness/confusion, Splenomegaly, Myocarditis ORPHA:83317
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Ischemic stroke, Bacterial endocarditis, Hemothorax, Epistaxi... ORPHA:2038
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Congestive hea... OMIM:619259
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Myopathy, Lethargy, Cardiomyopathy OMIM:614922
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia OMIM:312170
Currarino Syndrome
Sacrococcygeal teratoma, Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospad... ORPHA:1552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle... ORPHA:268
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia OMIM:617397
Propionic Acidemia
Coma, Dystonia, Lethargy, Cerebellar hemorrhage, Hepatomegaly, Limb hypertonia, Cardiomyopathy OMIM:606054
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Mitral valve prolapse, Atrial flutter, Contractures of the large joints, Abnor... ORPHA:324410
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Narrow palate, Absent frontal ... OMIM:265800
Coproporphyria, Hereditary
Jaundice, Tachycardia, Hypertension, Cutaneous photosensitivity OMIM:121300
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Ataxia, Cardiomyopathy OMIM:618321
Ebola Hemorrhagic Fever
Coma, Lethargy, Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest ORPHA:319218
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Thoracic kyphosis, Flattened femoral head, Abnormal lumbar spine morphology, Intervert... ORPHA:93284
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Atelosteogenesis Type Iii
Vertebral hypoplasia, Thoracolumbar kyphosis, Fibular aplasia, Coronal cleft vertebrae, Club-shap... ORPHA:56305
Diamond-Blackfan Anemia 1
Triphalangeal thumb, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, Micrognathia, Hyp... OMIM:105650
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Loss of consciousness ORPHA:247525
Tachycardia, Hypertension OMIM:602079
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Rhizomelia, Stippled calcification proximal humeral epiphyses, Irregular vertebral end... OMIM:222765
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Conotruncal defect, Bradycardia, Atrioventricular canal defect ORPHA:40366
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, ... ORPHA:85172
Smith-Mccort Dysplasia 2
Platyspondyly, Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Generalized amyotrophy, Lethargy OMIM:610006
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle,... ORPHA:3304
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Micrognathia, Rhizomelia, Phalangeal dislocation, Camptodactyly, Lumbar... OMIM:264180
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Metaphyseal Acroscyphodysplasia
Scoliosis, Irregular phalanges, Short phalanx of finger, Cone-shaped epiphyses of the phalanges o... OMIM:250215
Visceral Steatosis, Congenital
Coma, Neonatal death, Myocardial steatosis, Lethargy OMIM:228100
Eiken Syndrome
Delayed epiphyseal ossification, Short phalanx of finger, Metaphyseal irregularity, Short foot, F... ORPHA:79106
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Lethargy, Increased muscle lipid content, Enlarge... OMIM:608836
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Multiple Carboxylase Deficiency
Coma, Lethargy, Limb muscle weakness, Ataxia ORPHA:148
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Hip dysplasia, Short femur, Maternal diabetes, Long penis, Radioulnar ... ORPHA:1988
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Ataxia OMIM:618225
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Delayed puberty, Cervical spine hypermobility, Short neck, Elevated ci... OMIM:305400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Bradycardia ORPHA:226313
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Lethargy, Atrial septal defect OMIM:614857
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Platyspondyly, Multicentric femoral head ossification, Genu ... OMIM:607326
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Coma, Lethargy ORPHA:28
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Orthostatic hypotension OMIM:252320
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy OMIM:237310
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal... OMIM:113000
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia ORPHA:95716
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Shoulder girdle muscle weak... ORPHA:254892
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Carpal bone hypoplasia, Severe carpal ossification dela... OMIM:184252
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Dysmetria, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Lethargy, Ataxia OMIM:618226
Necrotizing Enterocolitis
Lethargy, Abnormal heart morphology, Hypotension, Shock, Bradycardia ORPHA:391673
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Tachycardia OMIM:613870
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity OMIM:252920
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Distal ulnar hypoplasia, Platyspondyly, Genu valgum, Cone-shaped e... OMIM:304950
Asbestos Intoxication
Myocardial fibrosis, Right ventricular failure, Hepatojugular reflux, Oxygen desaturation on exer... ORPHA:2302
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Cleft ... ORPHA:2725
Illum Syndrome
Bradycardia OMIM:208155
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly OMIM:269920
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Long toe, Type II diabetes mellitus, Thin long bone diaphyses, Hypoplastic verteb... ORPHA:3455
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Hypotension, Tachycardia OMIM:236800
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Lower limb hypertonia, Hypertension, Drowsiness, Loss of ... ORPHA:2169
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Limb undergrowth, Short ribs, Abnormality of the metaphysis, Abnormal... ORPHA:1803
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Lethargy, Dystonia OMIM:233910
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Hajdu-Cheney Syndrome
Scoliosis, Hypoplastic 5th lumbar vertebrae, Short toe, Short neck, Absent frontal sinuses, Bicon... ORPHA:955
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Thoracic kyphosis, Camptodactyly, Iliac cres... OMIM:223800
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Micrognathia... OMIM:134780
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Tubular metacarpal bones, Spina bifida occult... OMIM:211910
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Short nec... ORPHA:1427
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Aortopulmonary window, Patent ductus arteriosus,... ORPHA:99050
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Evans Syndrome
Lethargy, Epistaxis, Syncope ORPHA:1959
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal morphology of female internal genitalia, Morphological abnormality of the gas... ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 2
Lethargy OMIM:610498
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Death in ... OMIM:617478
Cushing Disease
Lethargy, Hypertension, Telangiectasia of the skin, Myopathy, Cardiomyopathy ORPHA:96253
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Capitat... OMIM:271650
Dengue Fever
Lethargy, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Hepatomegaly, Cerebral hemorrhage ORPHA:99828
Palpitations, Coma, Lethargy, Reduced consciousness/confusion, Fluctuations in consciousness ORPHA:97279
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Moebius Syndrome
Short phalanx of finger, Micrognathia, Dysphagia, Decreased testicular size, Split hand, Camptoda... OMIM:157900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Coma, Dystonia, Lethargy ORPHA:289916
Isovaleric Acidemia
Coma, Lethargy, Cerebellar hemorrhage OMIM:243500
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Pericardial constriction OMIM:253250
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Heart murmur, Abnormal heart morphology ORPHA:1867
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Hidrotic ectodermal dysplasia, Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Sepsis In Premature Infants
Purpura, Hypotension, Jaundice, Petechiae, Tachycardia, Cyanosis, Bradycardia ORPHA:90051
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Flared iliac wing, Thoracic kyphosis, Short finger, Metaphyseal cupping of metacar... OMIM:300232
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Unsteady gait OMIM:603896
Cartilage-Hair Hypoplasia
Scoliosis, Short palm, Aganglionic megacolon, Esophageal atresia, Metaphyseal cupping, Lumbar hyp... OMIM:250250
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... OMIM:224700
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Double out... ORPHA:2326
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Micrognathia, Short neck, E... ORPHA:2879
Meningococcal Meningitis
Lethargy, Hypotension, Reduced consciousness/confusion, Drowsiness, Shock ORPHA:33475
Classic Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Hepatomegaly, Gait imbalance, Attention deficit hyp... ORPHA:79239
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Lethargy, Ataxia, Splenomegaly OMIM:201100
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Erythema, Syncope OMIM:615821
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of visual evoked potentials ORPHA:141
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Abnormally shaped carpal bones, Hip dislocation, Short thumb, Short... ORPHA:968
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary he... ORPHA:183
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Ataxia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Rift Valley Fever
Coma, Lethargy, Cardiac arrest, Gastrointestinal hemorrhage ORPHA:319251
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Confusion, Prolonged QT interval, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:71212
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... OMIM:308750
Hsd10 Disease, Infantile Type
Cyanosis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Dystonia, Lethargy, Gait disturbance, Ataxia, Hepatomegaly, Gait imbalance ORPHA:352
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Neonatal death, Cyanosis, Death in infancy OMIM:265120
Larsen Syndrome
Scoliosis, Cryptorchidism, Multiple carpal ossification centers, Short metatarsal, Hypoplastic ce... OMIM:150250
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Lethargy, Hepatomegaly, Drowsiness, Tachycardia ORPHA:263455
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Confusion, Facia... OMIM:607483
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Harrod Syndrome
Scoliosis, Cryptorchidism, Abnormal shoulder morphology, Kyphosis, Failure to thrive, Hypospadias... ORPHA:2115
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Coma, Lethargy, Tachycardia OMIM:229700
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Hypotension, Blepharospasm, Torticollis, Limb hypertonia, Oculogyric crisis, Limb dysto... OMIM:608643
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Hemothorax, Pericardial effusion, ... ORPHA:199241
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Acquired Purpura Fulminans
Acrocyanosis, Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock ORPHA:49566
Osteogenesis Imperfecta, Type V
Platyspondyly, Biconcave vertebral bodies, Anterior radial head dislocation, Abnormality of pelvi... OMIM:610967
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Oculocutaneous Albinism Type 1
Abnormal morphology of the choroidal vasculature, Depigmented fundus, Optic nerve misrouting, Hyp... ORPHA:352731
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Testicular atrophy, Decreased fertility OMIM:313200
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Lethargy, Gastrointestinal hemorrhage ORPHA:99826
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:616648
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Mitochondrial Complex I Deficiency, Nuclear Type 1
Coma, Lethargy, Ataxia, Abnormal mitochondria in muscle tissue, Hepatomegaly, Skeletal muscle atr... OMIM:252010
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Macroglossia, Metaphyseal widening, Metaphyseal irregularity, Flared ... OMIM:253200
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Intraventricular hemorrhage, Abnormal heart morphology ORPHA:79284
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Coma, Lethargy, Hepatomegaly OMIM:238970
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Ataxia OMIM:615838
Satoyoshi Syndrome
Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidu... ORPHA:3130
Isolated Complex I Deficiency
Lethargy, Ataxia, Abnormal mitochondria in muscle tissue, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:2609
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Lethargy, Hypotension, Hypoglycemic coma, Ataxia, Hepatomegaly, Cardiac arrest, Dilated car... ORPHA:20
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormal retinal nerve fiber layer morphology, Abnormality of visual evoked potent... ORPHA:1215
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Encephalitis Lethargica
Coma, Lethargy, Bradycardia, Upper limb muscle weakness ORPHA:83600
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, Myocardial infarcti... ORPHA:449285
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Erythema, Vasculitis, Urticaria ORPHA:343
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Avascul... OMIM:184100
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Lethargy, Ataxia ORPHA:765
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Delayed pubic bone ossification, Ovoid verteb... OMIM:183900
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Meier-Gorlin Syndrome 1
Cryptorchidism, Absent glenoid fossa, Camptodactyly, Hemivertebrae, Small for gestational age, Cl... OMIM:224690
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Prolonged neonatal jaundice, Petechiae, Cardiomyopathy OMIM:225750
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Hypertension, Pericardial effusion ORPHA:79126
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Tibial bowing, Crumpled long bones, Small for gestational age, A... OMIM:166210
Citrullinemia Type Ii
Coma, Delirium, Lethargy, Confusion, Drowsiness, Hepatomegaly, Hyperactivity, Fluctuations in con... ORPHA:247585
Amoebiasis Due To Free-Living Amoebae
Coma, Arrhythmia, Lethargy, Ataxia, Confusion, Facial palsy, Loss of consciousness, Myocardial ne... ORPHA:68
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect ORPHA:896
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Codas Syndrome
Scoliosis, Cryptorchidism, Genu valgum, Squared iliac bones, Congenital hip dislocation, Coronal ... OMIM:600373
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Bradycardia ORPHA:90673
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Staphylococcal Necrotizing Pneumonia
Hypotension, Confusion, Lethargy, Shock ORPHA:36238
Proximal Spinal Muscular Atrophy
Atrial septal defect, Bradycardia ORPHA:70
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To