Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
Synonyms:
Nmyc1,  Nmyc,  N-myc,  Nmyc-1,  bHLHe37

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Mycn mutations

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

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

The table below shows human diseases associated to Mycn by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, De... OMIM:600561
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I... OMIM:611880
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Death in infancy, Vertebral segmentation defect, Bicuspid aortic valve, D... OMIM:618845
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Vertebral segmentation d... OMIM:277300
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Cardiomyopathy, Respiratory insufficiency, Fusion of midcervical facet joints, L... OMIM:606842
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... OMIM:611369
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Respiratory insufficiency, Sclerosis of skull base, Knee flexion contracture, Hip ... OMIM:313420
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... OMIM:606612
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Ascites, Tricuspid regur... ORPHA:615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Hip dislocation, Increased endom... ORPHA:75840
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Right Atrial Isomerism
Total anomalous pulmonary venous return, Pulmonary artery atresia, Polysplenia, Abnormal lung lob... OMIM:208530
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Hyperekplexia 4
Umbilical hernia, Kyphoscoliosis, Distal arthrogryposis, Camptodactyly, Flexion contracture, Resp... OMIM:618011
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ... OMIM:616081
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Intervertebral space narrowi... OMIM:609223
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Hip dislocation, Neuropathic spinal arthropathy, Respiratory in... ORPHA:370968
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... ORPHA:163665
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory failure, Short neck, Respir... OMIM:611890
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... OMIM:616867
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc... OMIM:614399
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Respiratory insufficiency, Ab... OMIM:276950
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Short stature, ... OMIM:618174
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:616198
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Congenital muscular torticollis, Ventricular septal defect, ... ORPHA:2345
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Congestive heart failure OMIM:301021
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Peripheral arteriovenous fistula, Congestive hea... ORPHA:90308
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Alg3-Cdg
Hypoplasia of the pons, Cardiomyopathy, Abnormality of the gastrointestinal tract, Dandy-Walker m... ORPHA:79321
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lipoid pneumonia, EMG: myopathic ab... OMIM:620326
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestive heart failure OMIM:615440
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Pulmonary hypoplasia, Agenesis of pulmonary vessels, Multilobulated sple... OMIM:601186
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platy... OMIM:271530
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Genu varum, Delayed skeletal maturation OMIM:608361
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr... OMIM:616583
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, ... OMIM:619879
Endocardial Fibroelastosis
Endocardial fibroelastosis, Hypoplasia of penis, Restrictive cardiomyopathy, Congestive heart fai... ORPHA:2022
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Scoliosis, De... OMIM:156530
Diaphanospondylodysostosis
Myelomeningocele, Short neck, Abnormal vertebral segmentation and fusion, Absent or minimally oss... ORPHA:66637
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of fa... ORPHA:254875
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Cerebellar dysplasia, Knee fl... OMIM:616531
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Ventricular se... OMIM:113000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Arrhythmia, Le... OMIM:540000
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro... OMIM:607155
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Recurrent aspiratio... ORPHA:2590
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Recurrent pne... OMIM:620249
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... ORPHA:70589
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Increased susc... OMIM:312150
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Limitation of joint mobi... ORPHA:2619
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Ureteral agenesis, Redundant neck... OMIM:236500
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Pulmonary a... OMIM:619003
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, J... OMIM:615583
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Pe... ORPHA:57777
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Respiratory insufficiency, Lumbar hyperlordosis, Increased inte... OMIM:256050
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Delayed cranial suture closure, Respiratory failure, Short neck ORPHA:1832
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation, Left ventricu... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging, Advanced ossification of carpal bones, Flat acetabular roof, Ge... OMIM:617719
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... ORPHA:980
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Kyphos... ORPHA:85198
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Delayed skeletal maturation, Irregular acetabular roof, Reduced bone mineral densi... OMIM:617974
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Hypoplastic heart, Amyoplasia, Intrauterine growth retardation, Increased susc... OMIM:253290
Sandhoff Disease
Cherry red spot of the macula, Recurrent respiratory infections, Congestive heart failure ORPHA:796
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Congenital diaphragmatic hernia, Ventricular sep... OMIM:615524
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Situs inversus totalis, ... OMIM:613686
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Intrauterine growth retardation, Distal arthrogryposis, Flexion contra... OMIM:617194
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Dandy-Walker malformation, Pulmonary hypopl... ORPHA:3032
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Chiari type I malformation, Micropenis, Hydrocephalus, Sho... OMIM:241800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow flexion contracture... OMIM:178110
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Skeletal muscle atrophy, Multiple joint contractures... OMIM:618291
Marden-Walker Syndrome
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Decreased muscle mass, Post... OMIM:248700
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Nephrotic syndrome, Congestive heart failure, Hypertrophic ca... ORPHA:330001
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Dilated cardiomyopathy, Neuropathic spinal arthropathy, Ragged-red muscle fibers... ORPHA:352447
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Rectus femoris muscle atrophy, Muscular dystrophy... ORPHA:98905
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Arteriovenous malformation, Lymphedema, Congestive heart failure, Abnorma... ORPHA:137667
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Brachyolmia Type 2
Platyspondyly OMIM:613678
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr... OMIM:610967
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ... OMIM:310200
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141179
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... ORPHA:99642
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Intrauterine grow... ORPHA:1194
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Intraut... OMIM:610198
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Pterygium, Joint st... ORPHA:2771
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absenc... ORPHA:2847
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Webbed neck, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal mal... OMIM:618316
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Stillbirth, Elbow flexion contracture, Knee flexion contracture, Hip c... OMIM:617468
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Resp... ORPHA:171433
Mulibrey Nanism
Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, Pericardial con... OMIM:253250
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Czeizel-Losonci Syndrome
Myelomeningocele, Ureteral agenesis, High palate, Hydronephrosis, Tracheoesophageal fistula, Spin... ORPHA:2437
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Pyloric stenosis, Delayed eruption of teeth, Anteriorly p... OMIM:619148
Pseudodiastrophic Dysplasia
Platyspondyly, Phalangeal dislocation, Scoliosis, Elbow dislocation ORPHA:85174
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo... ORPHA:1159
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Abno... OMIM:616733
Developmental And Speech Delay Due To Sox5 Deficiency
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis ORPHA:313892
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress, Aspiration p... OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Aspiration pneumonia, Respiratory failure... ORPHA:90117
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Cardiomyopathy, Abnormal heart morphology, Scoliosis, Res... ORPHA:79327
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Pulmonary hypoplasia, Sec... OMIM:616866
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Pulmonary artery atresia, Double inlet right ventricle, Dextrotranspositi... OMIM:619702
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Neonatal respiratory distress, Hip dislocation, Skeletal muscle a... ORPHA:70
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141184
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Morquio Syndrome C
Platyspondyly OMIM:252300
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Congenital malformation of the ... ORPHA:2332
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Respiratory insufficiency, Ectopic ossification in ligament tiss... OMIM:135100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Finger syndactyly, Stillbirth, Umbilical hernia, Aplasia of the distal phalanx of the 3rd finger,... OMIM:308050
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... ORPHA:568051
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Cleft palate, Camptodactyly of finger, Abnormal lung lobation ORPHA:2631
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Pterygium... OMIM:259450
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Hypertension, Myocardial infarction, Congestive heart ... OMIM:615703
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Cardiomegaly, Nephrotic syndrome, Hydrops fetalis OMIM:269920
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Stroke, Atria... ORPHA:49827
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Hereditary Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Congenital muscular torticollis, Hypopl... ORPHA:2916
Fryns Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Short... ORPHA:2059
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ... OMIM:314400
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes... ORPHA:98909
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Intrauterine growth retardation, Increased nuchal tran... ORPHA:2655
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Thoracic platyspondyly, Death in childhood, Increased intervertebr... OMIM:618961
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Wildervanck Syndrome
Meningocele, Facial palsy, Fused cervical vertebrae, Short neck ORPHA:3456
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Combined Oxidative Phosphorylation Deficiency 22
Intrauterine growth retardation, Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Myopathy, Wolff-Parkinson-White syndrome OMIM:618234
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, End... OMIM:212140
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Gastri... OMIM:613490
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture ORPHA:157973
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Oliguria, Congestive heart failure, Stroke, Heart m... ORPHA:1054
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Genu valgum, Irregularity of vertebral bodies OMIM:609324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pleural effusion, Vent... OMIM:616897
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Cardiomyopathy, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion,... OMIM:616549
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis ORPHA:163596
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Hemivertebrae, Recurrent respiratory ... ORPHA:2759
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death, Abnormal cardiac septum morph... OMIM:601612
Fetal Akinesia Deformation Sequence
Generalized amyotrophy, Camptodactyly of finger, Intrauterine growth retardation, Multiple joint ... ORPHA:994
Cednik Syndrome
Stroke, Nephrotic syndrome, Proteinuria, Congestive heart failure ORPHA:66631
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Lateral Meningocele Syndrome
Kyphosis, Decreased muscle mass, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral b... OMIM:130720
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter... ORPHA:93284
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial septa... ORPHA:500533
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasia ORPHA:3033
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Chron... OMIM:608647
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Umbilical hernia, Joint hypermobility, Abnormality of t... ORPHA:915
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Tonne-Kalscheuer Syndrome
Hypospadias, Velopharyngeal insufficiency, Abnormal heart morphology, Congenital diaphragmatic he... OMIM:300978
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Mosaic Trisomy 16
Craniofacial asymmetry, Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, H... ORPHA:1708
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Laryngomalacia
Respiratory distress OMIM:150280
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethra... OMIM:314390
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal mal... OMIM:269860
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Ventricular septal defect OMIM:616277
Dental Anomalies And Short Stature
Platyspondyly, Delayed skeletal maturation, Herniation of intervertebral nuclei, Mitral valve pro... OMIM:601216
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... ORPHA:991
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Intrauterine g... OMIM:245400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Intrauterine growth retardation, Splenomegaly, Aqueductal stenosis, Pulmo... ORPHA:3035
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Intrauterine growth retardation, Abnormal pleura morpho... ORPHA:2570
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Perching Syndrome
Respiratory distress OMIM:617055
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Tetrasomy 5P
Congestive heart failure, Postnatal growth retardation, Redundant neck skin, Cerebellar hypoplasi... ORPHA:3309
Oligomeganephronia
Unilateral renal agenesis, Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Bi... ORPHA:2260
Fabry Disease
Lipiduria, Congestive heart failure, Lymphedema, Transient ischemic attack, Renal insufficiency, ... OMIM:301500
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Distal Triplication 15Q
Abnormal heart morphology, Horseshoe kidney, Intrauterine growth retardation, Hypoplastic aortic ... ORPHA:314588
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Respiratory insufficiency, Encephalocele, Joint hype... ORPHA:93274
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Hip osteoarthritis, Osteoarthritis OMIM:271600
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossification, Decrease... ORPHA:1426
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Severe Congenital Nemaline Myopathy
Nemaline bodies, Hypospadias, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predo... ORPHA:171430
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph... ORPHA:2257
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Inflammation of the large intestine, Interstitial emphysema, Hypoplasia of the pon... OMIM:619708
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Telangiectasia, Cardiomegaly... OMIM:235200
Autosomal Recessive Multiple Pterygium Syndrome
Webbed neck, Skeletal muscle atrophy, Umbilical hernia, Camptodactyly of finger, Intrauterine gro... ORPHA:2990
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Pseudodiastrophic Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lumbar vertebra... OMIM:264180
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Congenital diaphragmatic hern... ORPHA:139466
Pyle Disease
Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Cubitus valgus... OMIM:265900
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Stroke-like episode, Abnormal heart morphology, Congestive heart fai... ORPHA:70472
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Widening of cervical spin... OMIM:253310
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Pulmonary ... OMIM:601163
Alkaptonuria
Aortic valve calcification, Limited hip movement, Intervertebral disk degeneration, Thickened Ach... OMIM:203500
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal... OMIM:118100
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure OMIM:606703
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies ORPHA:85172
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho... OMIM:265000
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of t... OMIM:253000
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria... OMIM:259440
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu... OMIM:611126
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Hyposegmentation of neutrophil nucl... ORPHA:250999
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Synostosis of carpal bones, Spina bifi... OMIM:102510
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Abnormal card... ORPHA:367
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnormal tendon morphology, Cong... ORPHA:85446
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Severe platyspondyly, To... OMIM:620639
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Camptodactyly of finger, Congestive hea... ORPHA:261519
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia ORPHA:264675
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Natal tooth, Lobulated tongue, Hamartoma of tongue, Encephalocele, ... OMIM:616300
Acalvaria
Abnormal lung lobation, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Holopr... ORPHA:945
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hamartoma of tongue, Occipital meningo... OMIM:616546
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Thoracoabdominal Syndrome
Hypospadias, Congenital diaphragmatic hernia, Transposition of the great arteries, Hydrocephalus,... OMIM:313850
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Umbilical hernia, Knee dislocation, Shoulder dislocation, Mitral valve prolapse, Thor... OMIM:618000
Pentalogy Of Cantrell
Hypospadias, Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphr... ORPHA:1335
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Hall-Riggs Syndrome
Platyspondyly, Delayed skeletal maturation, Intrauterine growth retardation, Osteoporosis, Scolio... OMIM:234250
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Chiari malformation, Abnormality of the ureter, Large place... OMIM:249000
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Agenesis of corpus... OMIM:202650
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Delayed skeletal maturation, Umbilical h... OMIM:239850
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect, Aplasia/Hypoplasia... ORPHA:1296
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia, Abnorma... OMIM:266500
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Mo... OMIM:613177
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Delayed epiphyseal ossification, Hip dislocation, Hip subl... ORPHA:93360
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Agenesis of corpus callosum, Hypoglycosylation o... ORPHA:370959
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral ... OMIM:305620
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ... OMIM:614262
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Thoracic platyspondyly, Joint stiffness, Genu valgum, Abnormal acet... ORPHA:166011
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Osteoporotic tarsals, Flat acetabular roof, Ovoid vertebral bo... OMIM:609052
Caudal Regression Syndrome
Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, H... ORPHA:3027
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae OMIM:156510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narrow vertebra... OMIM:618395
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Pulmo... ORPHA:449280
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Tetralogy of Fallot, Abnormality of the uret... ORPHA:2970
Asbestos Intoxication
Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick... ORPHA:2302
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Facial diplegia, Neonatal death, Hypomimic face, Limb joint contractur... OMIM:618186
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Periorbital edema, Edema ORPHA:3386
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Atrioventricular canal defect, Congenital diaphr... ORPHA:1120
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous ventricular s... OMIM:618804
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Periphera... ORPHA:75249
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Anterior beaking of lumbar verteb... OMIM:230650
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Matthew-Wood Syndrome
Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Intrauterine growth retardation, Vesicoure... ORPHA:2470
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Recurrent pneumonia, Scoliosis OMIM:602271
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Intrauterine growth ret... OMIM:604320
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Congenital diaphragmatic hernia, Short neck, T... OMIM:263210
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Respiratory failure, Respira... OMIM:615330
Koolen-De Vries Syndrome
Hip dislocation, Kyphosis, Sacral dimple, Intrauterine growth retardation, Spondylolisthesis, Ven... OMIM:610443
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Narrow palate, Stiff neck, Intrauterine growth re... OMIM:617022
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Pulmonary hypoplasia ORPHA:2141
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Abnormal heart morphology, Encephalocele, Short neck, Hydrocephalus, Flexio... ORPHA:1865
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Camptodactyly of finger, Elbow flexio... ORPHA:1692
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... ORPHA:36238
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral... ORPHA:90349
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Splenomegaly,... OMIM:615636
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Aspiration pneumonia, Hip contracture, Flexion contracture of fing... ORPHA:2020
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis OMIM:184840
Cardiogenic Shock
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... ORPHA:97292
Vacterl With Hydrocephalus
Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, Spina bifida, Hyd... ORPHA:3412
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... OMIM:272460
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Mosaic Trisomy 20
Spinal canal stenosis, Intrauterine growth retardation, Abnormal mitral valve morphology, Dysplas... ORPHA:1724
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... ORPHA:79083
Odontochondrodysplasia
Platyspondyly, Death in infancy, Joint hypermobility, Scoliosis, Patent ductus arteriosus ORPHA:166272
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Wide anterior fontanel OMIM:618240
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Atrial septal defect, Ventricular fibrillation, Holoprosencephaly, Hyp... OMIM:270400
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Biconvex vertebral bodies, Death in infancy, Joint hypermobility,... OMIM:184260
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Meckel Syndrome, Type 6
Occipital encephalocele, Horseshoe kidney, Renal cyst, Bilobed right lung, Hydrocephalus, Anencep... OMIM:612284
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic acidu... ORPHA:99901
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Bronchiectasis, Atelectasis, Atrial situs ambiguous, Abnormal hear... ORPHA:244
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ... ORPHA:2671
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy OMIM:619386
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Sinus tachycardia, Elevated urinary norepinephrine level, Conges... ORPHA:94080
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited elbow extension, Os... OMIM:271650
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cystic hygroma, Narrow palate, Hydranencephaly, Lateral ventricle dilatation, Atelectasis, Tricus... OMIM:620371
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Distal amyotrophy, Scoliosis, Respiratory failure OMIM:616505
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre... OMIM:615220
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Occipital encephalocele, Disproportionate short-limb short stature, Neonata... OMIM:224410
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac... OMIM:609220
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Cerebellar hypoplasia, Short stature,... OMIM:612530
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypersensiti... ORPHA:79127
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Micropenis... OMIM:618280
Stickler Syndrome Type 1
Platyspondyly, Abnormal vertebral epiphysis morphology, Mitral valve prolapse, Joint hypermobilit... ORPHA:90653
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Myhre Syndrome
Aortic valve stenosis, Platyspondyly, Limitation of joint mobility, Skeletal muscle hypertrophy, ... OMIM:139210
Meacham Syndrome
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... OMIM:608978
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Oligosacchariduria, Congestiv... ORPHA:423461
Larsen-Like Syndrome, Lethal Type