Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pleiomorphic adenoma gene-like 1
Synonyms:
Zac1

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 Plagl1 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 Plagl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Transient Neonatal Diabetes Mellitus
Umbilical hernia, Abnormal heart morphology ORPHA:99886
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Umbilical hernia ORPHA:96191

The table below shows human diseases predicted to be associated to Plagl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Asbestos Intoxication
Myocardial fibrosis, Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... ORPHA:70589
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... OMIM:619751
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... OMIM:231070
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Atrial septal defect, Premature skin wrinkling ORPHA:101028
Waardenburg Syndrome Type 3
Joint stiffness, Abnormality of finger, Atrial septal defect, Tracheomalacia, Camptodactyly of fi... ORPHA:896
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... ORPHA:79126
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Odontochondrodysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... OMIM:184260
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... OMIM:615294
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal de... OMIM:619371
Dermatoleukodystrophy
Large hands, Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... OMIM:132400
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Hypermobility of interphalangeal joints, 2-3 toe syndactyly, Periorbital wrinkles, 2-4 finger syn... OMIM:227210
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... OMIM:615067
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Meconium Aspiration Syndrome
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Aspiration pneumonia, Wheezing,... ORPHA:70588
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... ORPHA:141152
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Pulmonary infiltrates, Asthma, Atrial sept... OMIM:610978
Stuve-Wiedemann Syndrome 1
Apnea, Femoral bowing, Short neck, Ulnar deviation of finger, Single transverse palmar crease, Co... OMIM:601559
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea OMIM:267450
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Cutis l... ORPHA:363705
Cutis Laxa, Autosomal Dominant 3
Talipes equinovarus, Cutis laxa, Adducted thumb, Osteopenia, Premature skin wrinkling, Hip disloc... OMIM:616603
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Respiratory distress, Apnea, Hypoxemia, Nodular pattern on pulmonary HRCT, ... OMIM:610921
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Small hand, Excessive wrinkled skin, Sco... ORPHA:2500
Cutis Laxa, Autosomal Dominant 2
Scoliosis, Cutis laxa, Premature skin wrinkling OMIM:614434
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia OMIM:615872
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right... ORPHA:1209
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Slender long bones with narrow diaphyses, Cran... ORPHA:536467
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplantar... ORPHA:498359
Odontochondrodysplasia
Respiratory distress, Cone-shaped epiphysis, Platyspondyly, Micromelia, Scoliosis, Square pelvis ... ORPHA:166272
White Forelock With Malformations
Prominent veins on trunk, Atrial septal defect OMIM:277740
Bronchogenic Cyst
Back pain, Abnormal pericardium morphology, Abnormal lumbar spine morphology, Cough, Atelectasis,... ORPHA:2357
Cog7-Cdg
Abnormality of finger, Adducted thumb, Excessive wrinkled skin, Short neck, Long fingers, Jaundic... ORPHA:79333
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Respiratory insufficiency due to muscle weakness, Flexion ... ORPHA:1143
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis OMIM:616726
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Atrial septal defect, Umbilical hernia OMIM:615297
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... ORPHA:439
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Dense metaphys... ORPHA:50811
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification OMIM:619773
Arthrogryposis Multiplex Congenita 5
Intrauterine growth retardation, Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adduct... OMIM:618947
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Joint laxity OMIM:608763
Thanatophoric Dysplasia Type 1
Joint stiffness, Kyphosis, Atrial septal defect, Short femur, Excessive wrinkled skin, Femoral bo... ORPHA:1860
Microphthalmia, Syndromic 8
Premature skin wrinkling, Split foot OMIM:601349
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... ORPHA:254361
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow meta... ORPHA:1423
Primary Ciliary Dyskinesia
Double outlet right ventricle, Bronchiectasis, Airway obstruction, Anomalous pulmonary venous ret... ORPHA:244
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Death in infancy, Joint hypermobility OMIM:300219
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Craniosynostosis, Osteopenia, Generalized abnormality of skin... ORPHA:2314
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Reduced subcutaneous adipose tissue, Recurrent fractures, Epiphyseal dysplasia, Prematurely aged ... OMIM:248010
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass o... ORPHA:91359
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Talipes equinovarus, Camptodactyly of finger, Respiratory insufficiency, Sc... OMIM:614399
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Kniest Dysplasia
Respiratory distress, Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara,... OMIM:156550
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... OMIM:619611
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... ORPHA:3348
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Arthrogryposis, Distal, Type 1A
Hip contracture, Decreased hip abduction, Overlapping toe, Talipes equinovarus, Joint contracture... OMIM:108120
Nicolaides-Baraitser Syndrome
Abnormality of finger, Excessive wrinkled skin, Broad distal phalanx of finger, Brachydactyly, Sc... ORPHA:3051
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Cystic pattern on pulmonary HRCT, Cyanosis, Respiratory insuffic... OMIM:610913
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Prematurely aged ap... ORPHA:2078
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Respiratory failure, Dyspnea, Intrauterine growth retardation ORPHA:1832
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Respiratory distress, Cone-shaped epiphyses of the phalanges of t... OMIM:617102
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Cyanosis, Neonatal death, Ground-glass opacification, Tach... OMIM:265120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Alg8-Cdg
Talipes equinovarus, Cutis laxa, Brachydactyly, Camptodactyly, Abnormality of subcutaneous fat ti... ORPHA:79325
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Ground-glass opacificat... ORPHA:1302
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Myofiber disarray, Muscular ventricular septal defect, Ventricular sept... OMIM:115197
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxia... OMIM:183900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Diffuse reticular or finely nod... ORPHA:79127
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Prematurely aged appearance, Bruising suscep... OMIM:618000
Short Syndrome
Joint laxity, Clinodactyly, Premature skin wrinkling, Radial deviation of finger, Enlarged epiphy... OMIM:269880
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Enthesitis, Knee osteoarthritis, Abnormal heart morphology, Oligoarthritis, Ba... ORPHA:85438
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Clinodactyly of the 5th finger, Progeroid facial appearance,... OMIM:602249
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Scoliosis, Clinodactyly OMIM:300934
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short toe, Respiratory insufficiency, Bowing of the arm, Brachydactyly, Neona... OMIM:269860
Diaphanospondylodysostosis
Respiratory distress, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally... ORPHA:66637
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... ORPHA:724
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Exertional dysp... ORPHA:2032
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Respiratory failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... ORPHA:2759
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Atrial septal defect, Perimembranous ventricular septal defect, Muscul... ORPHA:363444
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal st... OMIM:608154
Moebius Syndrome
Respiratory distress, Talipes equinovarus, Short neck, Brachydactyly, Short phalanx of finger, Sy... OMIM:157900
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Prematurely aged appearance, Reduced bone mineral densit... ORPHA:2617
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Farber Disease
Respiratory distress, Short toe, Flexion contracture, Nodular pattern on pulmonary HRCT, Diffuse ... ORPHA:333
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Short distal p... OMIM:311300
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Scolio... ORPHA:86812
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Cog5-Cdg
Joint contracture of the hand, Camptodactyly of finger, Short neck, Finger clinodactyly, Genu val... ORPHA:263487
Cutis Laxa, Autosomal Recessive, Type Iib
Bruising susceptibility, Excessive wrinkled skin, Osteopenia, Lack of skin elasticity, Congenital... OMIM:612940
Chromosome 16P13.3 Duplication Syndrome
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... OMIM:613458
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Beaking of vertebral ... OMIM:607326
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy OMIM:604377
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Myoclonic-Astatic Epilepsy
Syndactyly, Premature skin wrinkling ORPHA:1942
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Excessive wrinkled skin, Osteopenia, Osteomalacia, Osteop... ORPHA:1901
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Pallor, Crackles, Reticular pattern on ... ORPHA:99931
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cor pulmonale, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Nicolaides-Baraitser Syndrome
Intrauterine growth retardation, Broad 2nd toe, Excessive wrinkled skin, Broad distal phalanx of ... OMIM:601358
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Aspergillosis
Asthma, Pulmonary infiltrates, Osteomyelitis, Sinusitis, Chronic pulmonary obstruction, Diffuse r... ORPHA:1163
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Fg Syndrome Type 1
Atrial septal defect, Generalized joint laxity, Craniosynostosis, Limited elbow extension and sup... ORPHA:93932
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... ORPHA:163966
Sotos Syndrome
Ventricular septal defect, Prolonged neonatal jaundice, Atrial septal defect, Muscular ventricula... OMIM:117550
Autosomal Dominant Cutis Laxa
Bronchiectasis, Prematurely aged appearance, Talipes equinovarus, Cutis laxa, Adducted thumb, Ost... ORPHA:90348
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Craniosynostosis, Platyspondyly, Intrauterine growth retarda... OMIM:612289
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, Mesomelia, Hypo... OMIM:228940
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187601
Noonan Syndrome 11
Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Atrial septal defect OMIM:618499
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, Short phalanx of finger, Intrauterine growth retardation, Short... OMIM:618724
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough ORPHA:77260
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Scoliosis, Death in infancy, Neonatal respiratory distress, Congenital cont... OMIM:615042
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... ORPHA:1427
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance, Abnormality of the hand, Scoliosis, Hyperlordosis, Ulnar deviation o... ORPHA:1387
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short metacarpal, Flexio... OMIM:215150
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Opitz-Kaveggia Syndrome
Multiple joint contractures, Lumbar hyperlordosis, Joint contracture of the hand, Prominent finge... OMIM:305450
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... ORPHA:36238
Arthrogryposis, Distal, Type 2B1
Talipes equinovarus, Camptodactyly of finger, Scoliosis, Ulnar deviation of the wrist, Distal art... OMIM:601680
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Talipes equinovarus, Arthrogryposis-like hand anomaly, Paradoxical respirat... OMIM:620011
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Ruvalcaba Syndrome
Kyphosis, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Scoliosis, Sh... OMIM:180870
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyses, Short long bone... OMIM:611717
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Muscular ventricular septal defect OMIM:619227
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Platyspondyly, Broad femoral nec... OMIM:615222
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Ventilator depen... ORPHA:254875
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Kyphoscoliosis, Respiratory insufficiency, Elbow flexion c... ORPHA:1145
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sleep apnea, Flexion cont... ORPHA:365
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Aortic valve stenosis, Progeroid facial appearance, Flexion contracture, Cutis la... ORPHA:75496
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Osteopenia, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Dyspnea, Clubbi... OMIM:614742
Diaphanospondylodysostosis
Vertebral segmentation defect, Respiratory distress, Talipes equinovarus, Unossified sacrum, Trac... OMIM:608022
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Avascular necrosis of the ... OMIM:190351
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Cyanosi... ORPHA:2414
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Myopathy And Diabetes Mellitus
Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend... ORPHA:2596
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Atrial septal defect, Adducted thumb, Patent foramen ovale, Rocker bottom f... ORPHA:89844
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:3469
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Flexion contracture of finger, Osteopenia, Micromelia, Genu valgum, ... ORPHA:3206
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromel... OMIM:617895
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:261243
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Metacarpophalangeal joint contracture, Flexion contracture, Finger joint hy... ORPHA:544503
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart ORPHA:2476
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... ORPHA:95430
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Small hand, Upper limb undergrowth, Camptodactyly, Knee fle... OMIM:608799
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Short meta... OMIM:151200
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Hypoxemia, Restrictive ventilatory defect, Emphysema, Pneu... OMIM:612387
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... ORPHA:454836
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Atrial septal defect, Bruising susceptibility, Left ventricular hypertrophy, Poor... ORPHA:230851
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis OMIM:192950
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Reduced subcutaneous adipose tissue, Prematurely aged appearance,... ORPHA:2963
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Respiratory insufficiency, Scoliosis, Hyperlordosis, Atelectasis, Aspiration... ORPHA:258
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect ORPHA:357225
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... OMIM:619636
Choanal Atresia
Respiratory distress, Tracheomalacia, Craniosynostosis, Cyanosis, Polydactyly, Abnormal nasal muc... ORPHA:137914
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Pallor, Atrial septal defect ORPHA:49827
Osteoglophonic Dysplasia
Broad metacarpals, Respiratory distress, Broad phalanx, Craniosynostosis, Short neck, Platyspondy... OMIM:166250
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressu... ORPHA:199241
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pne... OMIM:244400
Desbuquois Dysplasia 2
Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Single transverse pa... OMIM:615777
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Craniosynostosis, Myocarditis, Abnormal myocard... ORPHA:3342
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Talipes equinovarus, Adducted thumb, Respiratory insufficiency, Short neck, Scol... OMIM:616266
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... OMIM:114290
Hutchinson-Gilford Progeria Syndrome
Abnormal mitral valve morphology, Limitation of movement at ankles, Lack of skin elasticity, Vent... ORPHA:740
Arthrogryposis, Distal, Type 3
Overlapping toe, Decreased hip abduction, Lumbar hyperlordosis, Talipes equinovarus, Kyphoscolios... OMIM:114300
Alg12-Cdg
Redundant skin, Biventricular hypertrophy, Patent foramen ovale, Muscular ventricular septal defect ORPHA:79324
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Absent ossification of capital femoral epi... ORPHA:226313
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Intrauterine growth retardation, Flexion cont... OMIM:616733
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Flexion contracture, Arachnodactyly, Osteopenia, Congenital hip dislocation... OMIM:271225
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Osteopenia, Femoral bowing OMIM:618188
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology ORPHA:50251
Congenital Vertical Talus
Distal arthrogryposis, Achilles tendon contracture, Equinus calcaneus, Rocker bottom foot ORPHA:178382
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Redundant ne... OMIM:618652
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Respiratory insufficiency, Cough, Arthritis, Purpura ORPHA:375
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Ventricular septal d... OMIM:143095
Three M Syndrome 3
Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Slender long bone, Promin... OMIM:614205
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Abnormal cardiac septum morphology, Tracheomalacia, Short neck, Brachydacty... OMIM:217980
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Laron Syndrome
Short toe, Prematurely aged appearance, Osteoarthritis, Brachydactyly, Abnormality of the elbow ORPHA:633
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, Micromelia, Rhizomelia, T... OMIM:215140
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... ORPHA:178320
Relapsing Polychondritis
Abnormal aortic valve morphology, Erythema, Myocarditis, Arthritis, Cough, Abnormal pattern of re... ORPHA:728
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary venous hypertension,... ORPHA:90060
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... ORPHA:56304
Restrictive Dermopathy 2
Respiratory distress, Short clavicles, Cyanosis, Overtubulated long bones, Intrauterine growth re... OMIM:619793
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Recurrent fractures, Upper limb asymmetry, Reduced bone mineral density ORPHA:137608
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Talipes equinovarus, Bruising susceptibility, Arachnodactyly, Osteopenia, Palmopl... OMIM:225400
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Lujo Hemorrhagic Fever
Respiratory distress, Rhinitis, Nonproductive cough, Crackles, Myocarditis, Atelectasis, Purpura,... ORPHA:319213
Fanconi Anemia, Complementation Group O
Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonatal death, Death... OMIM:613390
Succinic Acidemia
Respiratory distress OMIM:600335
Shwachman-Diamond Syndrome 1
Respiratory distress, Coxa vara, Metaphyseal chondrodysplasia, Narrow greater sciatic notch, Meta... OMIM:260400
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... ORPHA:133
Tularemia
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Atrial septal defect OMIM:616898
Campomelia, Cumming Type
Prematurely aged appearance, Abnormally ossified vertebrae, Brachydactyly, Micromelia, Death in i... ORPHA:1318
Ogden Syndrome
Apnea, Congenital hip dislocation, Short neck, Ventricular septal defect, Broad hallux, Sandal ga... OMIM:300855
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Hypoplasia of the radius, Short neck, Brachydactyly, Micromeli... ORPHA:3015
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... OMIM:127200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Platy... OMIM:300863
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Larsen Syndrome
Ventricular septal defect, Intrauterine growth retardation, Elbow dislocation, Talipes equinovaru... OMIM:150250
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Cutis laxa, Excessive wrinkled skin, Osteopenia, Osteoporosis, Prominent sup... OMIM:614438
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Stillbirth, Atrial septal defect OMIM:263630
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Meningocele, Encepha... OMIM:611134
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Dry skin, Umbilical hernia ORPHA:1035
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Gaucher Disease, Type I
Pulmonary infiltrates, Aortic valve stenosis, Pathologic fracture, Vertebral compression fracture... OMIM:230800
Li-Campeau Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:619189
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Hadziselimovic Syndrome
Ventricular septal defect, Ventricular hypertrophy, Atrial septal defect, Tetralogy of Fallot OMIM:612946
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral valve calcification, Premature skin wrinkling, Ventricular hypertro... ORPHA:363618
Arthrogryposis, Distal, Type 5D
Talipes equinovarus, Adducted thumb, Short neck, Scoliosis, Camptodactyly, Hyperlordosis, Elbow f... OMIM:615065
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... OMIM:220210
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Pulmonary infiltrates, Endocardial fibrosis OMIM:607685
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Sacral dimple, Elbow dislocation, Shou... ORPHA:536532
Arthrogryposis Multiplex Congenita 6
Adducted thumb, Death in childhood, Neonatal death, Death in infancy, Arthrogryposis multiplex co... OMIM:619334
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Bronchiec... ORPHA:60025
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Apical pulmonary opacity, Pleural empyema, Endo... ORPHA:449280
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Deviation o... ORPHA:93259
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology, Stridor ORPHA:2374
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Kyphosis, Respiratory insufficiency, Hand muscle atrophy, Scoliosis, Noctur... OMIM:211530
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Meier-Gorlin Syndrome 1
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Genu valgum, Intrauterine growth retar... OMIM:224690
De Barsy Syndrome
Prominent veins on trunk, Coxa vara, Kyphoscoliosis, Talipes equinovarus, Progeroid facial appear... ORPHA:2962
8Q12 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:228399
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Short neck, Pneumonia, Intrauterine growth retardation, Prem... OMIM:264090
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Patent foramen ovale OMIM:619967
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Flexion contracture, Respiratory insufficiency, Scoliosis, Upper air... ORPHA:435628
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart OMIM:618901
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, Platyspondyly, Myocarditis, Rhizo... OMIM:250220
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Respiratory distress, Short sternum, Talipes equinovarus, Short metacarpal, ... OMIM:266910
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary infiltrates, Narrow foramen obturatorium, Flexion contractu... ORPHA:220393
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Right ventricular hypertrophy, Interstitial pneumonitis, Chronic lung dise... ORPHA:217563
Wrinkly Skin Syndrome
Coxa vara, Kyphosis, Intrauterine growth retardation, Talipes equinovarus, Progeroid facial appea... OMIM:278250
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Multiple joint contractures, Thoracic scoliosis, Progeroid facial... ORPHA:2959
Seckel Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Prematurely aged appearance, Cra... ORPHA:808
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Osteopenia, Atlantoaxial abnorm... ORPHA:3455
Chitayat Syndrome
Respiratory distress, Hallux valgus, Brachydactyly, Tracheomalacia OMIM:617180
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Pde4D Haploinsufficiency Syndrome
Broad metacarpals, Irregular vertebral endplates, Broad phalanx, Short toe, Short metatarsal, Con... ORPHA:439822
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Talipes equinovarus, Right ventricular h... ORPHA:98915
Cleidocranial Dysplasia 1
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Incr... OMIM:119600
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Hand clenching, Scoliosis ORPHA:37612
Eosinophilia, Familial
Pulmonary infiltrates, Myocardial eosinophilic infiltration OMIM:131400
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Atrial septal defect, Patent foramen ovale OMIM:601450
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Hand clenching ORPHA:240103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hypoxemia, Rheumatoid arthritis, Crackles, Parenchymal consolidati... ORPHA:79128
Autosomal Recessive Cutis Laxa Type 2A
Progeroid facial appearance, Excessive wrinkled skin, Congenital hip dislocation, Increased susce... ORPHA:357058
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Weaver Syndrome
Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, Flared humera... OMIM:277590
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Palmoplantar cutis laxa, V... OMIM:615355
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Right atrial enlargement, Progeroid facial appearance, Flexion contracture, Scol... OMIM:614008
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Overlapping toe, Atrial septal defect, Flexion contracture, Overlapping fin... OMIM:619383
22Q11.2 Deletion Syndrome
Tricuspid atresia, Short neck, Ventricular septal defect, Intrauterine growth retardation, Talipe... ORPHA:567
Tetrasomy 5P
Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Talipes equinovarus, Cyano... ORPHA:3309
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Joint laxity, Calcaneovalgus deformity, Bruising susceptibility OMIM:225320
Zygomycosis
Pulmonary infiltrates, Sinusitis, Air crescent sign, Endocarditis, Myocarditis, Parenchymal conso... ORPHA:73263
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Redundant skin, Encephalocele ORPHA:93274
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Ventricular hypertrophy, R... OMIM:618278
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect OMIM:618974
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Atrial septal defect, Dysplastic pulmonary valve, Prominent fingertip pads,... OMIM:612863
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Malaria
Respiratory distress ORPHA:673
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Tibial bowing, Clinodactyly of the 5th finger, Talipes equinovarus, Slender finger, Lumbar hyperl... ORPHA:251028
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, Rhizomelia, Multinucleated giant chondrocytes in epip... OMIM:108720
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Small hand, Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Pericardial effusion OMIM:614684
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... OMIM:606763
Congenital Myasthenic Syndrome
Kyphoscoliosis, Episodic respiratory distress, Spinal rigidity, Respiratory arrest, Central sleep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Episodic respiratory distress, Spinal rigidity, Respiratory arrest, Central sleep... ORPHA:98914
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers... ORPHA:1826
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Immunodeficiency 27A
Pulmonary infiltrates, Hypoplasia of the femoral head, Abnormal bronchus physiology, Pneumonia, S... OMIM:209950
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology ORPHA:401935
Barber-Say Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Redundant skin, Brachydactyly, Dry skin, Pre... OMIM:209885
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Atelectasis, Restrictive ventilatory... ORPHA:538
Werner Syndrome
Joint stiffness, Telangiectasia of the skin, Miscarriage, Prematurely aged appearance, Increased ... ORPHA:902
Lenz-Majewski Hyperostotic Dwarfism
Short palm, Kyphosis, Abnormality of finger, Prematurely aged appearance, Increased bone mineral ... ORPHA:2658
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Short 5th finger, Slender long bone, Prominent calcaneus, Hyper... OMIM:612921
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Poor wound healing, Atrial septal defect, Bruising susceptibility OMIM:619115
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Intrauterine growth retardation OMIM:615597
Fetal Trimethadione Syndrome
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... ORPHA:1913
Acrootoocular Syndrome
Short toe, Decreased palmar creases, Kyphoscoliosis, Abnormal finger flexion creases, Palmar hype... ORPHA:2980
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... ORPHA:500
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Atrial septal defect, Cardiomyopathy, Situs inversus totalis OMIM:249270
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Talipes equinovarus, Bipartite calcaneus, Joint l... OMIM:608545
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Prematurely aged appearance, Abnormal sacroiliac joint morphology ORPHA:1807
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Atrial septal defect, Flared iliac wing, Flexion contracture, Metaphyseal w... OMIM:617303
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Kyphosis, Respiratory insufficiency, Platyspondyly, Osteoma... ORPHA:534
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Apneic episodes in infancy, Ventricular septal defect, Triphalangeal ... ORPHA:3078
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defe... OMIM:618316
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Small hand, Broad hallux phalanx, Short hallux, Broad thumb... ORPHA:93260
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... OMIM:614370
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy, Excessive wrinkl... ORPHA:758
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Niemann-Pick Disease, Type B
Dyspnea, Decreased DLCO, Diffuse reticular or finely nodular infiltrations OMIM:607616
Cystic Echinococcosis
Asthma, Urticaria, Bone cyst, Abnormality of the vertebral column, Abnormal pulmonary thoracic im... ORPHA:400
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metat... OMIM:614613
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Atrial septal defect OMIM:613355
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Polydactyly, Recurrent pneumonia, Hypoventilat... ORPHA:314655
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Prematurely aged appearance, Progeroid facial appearance, Flexion... ORPHA:90153
Ataxia-Telangiectasia
Telangiectasia of the skin, Premature graying of hair, Prematurely aged appearance, Mucosal telan... ORPHA:100
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Vent... OMIM:612561
Ablepharon-Macrostomia Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Redundant skin, Dry skin, Camptodactyly, Pre... OMIM:200110
Majeed Syndrome
Metaphyseal irregularity, Pulmonary infiltrates, Osteomyelitis, Increased bone mineral density, F... ORPHA:77297
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Small hand, Broad finger, Short phalanx of finger, Abnormal left ventricle morphology, Abnormal h... OMIM:300845
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Atrial septal defect, Ventricular septal defect, Postaxial hand polydactyly... ORPHA:2519
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Arthrogryposis multiplex congeni... OMIM:608013
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Progeroid facial appearance, Cutis laxa, Redundant skin, Poor wound ... OMIM:123700
Cardiofaciocutaneous Syndrome
Atrial septal defect, Abnormal morphology of ulna, Pulmonic stenosis, Deep palmar crease, Excessi... ORPHA:1340
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Nonproductive cough, Cyanosis, Tetralog... ORPHA:980
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Prominent veins on trunk, Cutis laxa, Generalized joint laxity, Excessive wrinkled skin, Redundan... ORPHA:357074
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Broad carpal bones, Short neck, Metaphyseal ch... ORPHA:99646
Congenital Rubella Syndrome
Ventricular septal defect, Atrial septal defect, Jaundice ORPHA:290
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... OMIM:613751
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Progeroid facial appearance, Flexion contracture, Acroosteolysis of distal phala... OMIM:608612
Wiedemann-Steiner Syndrome
Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Tapered finger, Short middle ... OMIM:605130
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Atrial septal defect, Postaxial polydactyly, Small hand, Scoliosis, Tapered... OMIM:300968
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Feingold Syndrome Type 1
Tricuspid atresia, Multiple muscular ventricular septal defects, Tricuspid stenosis, Abnormal hea... ORPHA:391641
Short Syndrome
Excessive wrinkled skin, Short palm, Brachydactyly, Joint hyperflexibility ORPHA:3163
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... OMIM:609945
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Prematurely aged appearance, Progeroid facial appearance, Abnorma... ORPHA:90154
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Thanatophoric Dysplasia
Redundant skin, Hydrocephalus, Atrial septal defect ORPHA:2655
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale OMIM:619149
Mental Retardation, Buenos Aires Type
Hydrocephalus, Atrial septal defect OMIM:249630
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hyporeflexia of upper limbs, Scoliosis, Calcaneovalgus deformity ORPHA:93952
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Bruising susceptibility, Osteopenia, Redundant skin, Micromelia, Short phalanx of fing... OMIM:225410
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Respiratory insufficiency, Generalized abnormality of ... ORPHA:367
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Pulmonary infiltrates, Urticaria, Sinusitis, Abnormal pericardium morphology, Cutis marmo... ORPHA:183
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Increased in... ORPHA:508533
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Adducted thumb, Short neck, Bilateral single transverse palmar creases, Mic... ORPHA:50810
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Total anomalous pulmonary v... ORPHA:261183
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Subcutaneous hemorrhage, Pneumonia ORPHA:238459
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all metacarpals, Platyspondyly, Limb undergrowth, Me... OMIM:601356
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Cough OMIM:619468
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Miscarriage, Absent glenoid fossa, Clinodactyly of the 3rd finger, ... ORPHA:96334
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, Short long bone, Ep... OMIM:271665
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... OMIM:306955
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Kyphosis, Progeroid facial appearance, Bruising susceptibili... OMIM:616914
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... OMIM:101800
Martsolf Syndrome 1
Short toe, Lumbar hyperlordosis, Talipes equinovarus, Short metacarpal, Slender ulna, Tracheomala... OMIM:212720
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Pulmonary infiltrates, Urticaria, Myelofibrosis, Vasculitis in the ... ORPHA:3260
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Megalencephaly
Atrial septal defect ORPHA:2477
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Patent foram... OMIM:157800
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Frank-Ter Haar Syndrome
Osteopenia, Ventricular septal defect, Bowing of the long bones, Short long bone, Double outlet r... OMIM:249420
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Abnormal pericardium morphology, Anencephaly, Tetralogy of F... ORPHA:1335
Pulmonary Hemosiderosis
Respiratory insufficiency, Transient pulmonary infiltrates OMIM:178550
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Atrial septal defect OMIM:618142
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hyp... ORPHA:7
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Kyphosis, Scoliosis, Abnormal epiphysis morphology, Contract... ORPHA:191
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... ORPHA:210122
Esophageal Atresia
Laryngotracheomalacia, Respiratory distress, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion OMIM:306400
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia ORPHA:2248
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Spinal dysr... OMIM:617660
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Slender finger, Ventricular septal defect, Proximal p... OMIM:610536
Codas Syndrome
Metaphyseal dysplasia, Coronal cleft vertebrae, Atrial septal defect, Delayed ossification of car... OMIM:600373
Fusariosis
Bronchiectasis, Pulmonary infiltrates, Osteomyelitis, Sinusitis, Air crescent sign, Parenchymal c... ORPHA:228119
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Chand Syndrome
Short fifth metatarsal, Atelectasis, Dry skin ORPHA:1401
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Atrial septal defect OMIM:603387
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Primum atrial septal defect, Right ventricular hypertrophy, Cyanos... ORPHA:1329
Opsismodysplasia
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Respiratory insufficiency, S... OMIM:258480
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Umb... ORPHA:329224
Werner Syndrome
Subcutaneous calcification, Prematurely aged appearance, Progeroid facial appearance, Reduced bon... OMIM:277700
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Atrial septal defect, Redundant neck skin ORPHA:1842
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Atrial septal defect OMIM:613870
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Osteopenia, Contractures of the large joints, Scoliosis ORPHA:329178
Gapo Syndrome
Prematurely aged appearance, Abnormal form of the vertebral bodies, Decreased skull ossification,... ORPHA:2067
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect OMIM:608406
Mogs-Cdg
Respiratory distress, Apnea, Thoracic scoliosis, Atrial septal defect, Left ventricular hypertrop... ORPHA:79330
Down Syndrome
Clinodactyly of the 5th finger, Prematurely aged appearance, Short neck, Brachydactyly, Bilateral... ORPHA:870
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Neonatal death, Hand oligodactyly, Endocardial fibroelastosis OMIM:276822
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Fructose-1,6-Bisphosphatase Deficiency