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
Cardiomegaly, Umbilical hernia, Ventricular septal defect 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
Clubbing of fingers, Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late ins... ORPHA:2302
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Premature skin wrinkling, Abnormal heart valve morphology, Redundant... ORPHA:90348
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance, Large hands, Prominent nose OMIM:221790
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Fla... OMIM:184260
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Adams-Oliver Syndrome 4
Atrial septal defect, Cutis marmorata, Umbilical hernia, Ventricular septal defect OMIM:615297
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of... ORPHA:896
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Absent ou... OMIM:615067
Perching Syndrome
Camptodactyly, Flexion contracture, Respiratory distress, Depressed nasal bridge OMIM:617055
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Transaldolase Deficiency
Biventricular hypertrophy, Atrial septal defect, Telangiectasia, Premature skin wrinkling ORPHA:101028
Rowley-Rosenberg Syndrome
Cor pulmonale, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pulmonary arteria... OMIM:268500
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Back pain, Pneumonia, Abnormal peric... ORPHA:2357
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Hypermobility of interphalangeal joints, Periorbital wrinkles, 2-3 toe syndactyly, 2-4 finger syn... OMIM:227210
Odontochondrodysplasia
Scoliosis, Platyspondyly, Respiratory distress, Short nose, Square pelvis bone, Joint hyperflexib... ORPHA:166272
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... OMIM:614399
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irreg... ORPHA:79106
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands... ORPHA:498359
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary arterial h... ORPHA:70588
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Phalangeal dislocation, Slender long bones with... ORPHA:536467
Acrogeria
Scoliosis, Prematurely aged appearance, Joint hyperflexibility, Telangiectasia of the skin, Small... ORPHA:2500
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Osteopenia, Intrauterine growth retardation, Talipes equino... OMIM:616603
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Cutis Laxa, Autosomal Dominant 2
Scoliosis, Cutis laxa, Premature skin wrinkling OMIM:614434
Arthrogryposis Multiplex Congenita 5
Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly, Death in infancy, Limitation of kne... OMIM:618947
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cyanosi... ORPHA:1209
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle,... ORPHA:244
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Thanatophoric Dysplasia Type 1
Platyspondyly, Abnormal sacroiliac joint morphology, Short femur, Atrial septal defect, Split han... ORPHA:1860
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Respiratory distress, Abnormal heart morphology, Flexion contractu... ORPHA:1143
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Shor... ORPHA:1423
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Sandal gap, Abnormal pelvi... OMIM:215140
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Dense metaphyseal bands, Progeroid facial appearance, I... ORPHA:50811
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Pulmonar... ORPHA:70587
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Achilles tendon contracture, ... ORPHA:254361
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Osteomyelitis, Craniosynostosis, Generalized abnormality of skin, Joint hyperflexibili... ORPHA:2314
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Joint laxity, Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Respiratory distress, Postaxial polydactyly, Limb unde... OMIM:617102
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Joint hyperflexibility, Lon... ORPHA:2759
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... OMIM:601376
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Microphthalmia, Syndromic 8
Split foot, Premature skin wrinkling OMIM:601349
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Arthrogryposis, Distal, Type 1A
Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, Stiff shoulders, Campt... OMIM:108120
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Short Syndrome
Joint laxity, Underdeveloped nasal alae, Enlarged epiphyses, Premature skin wrinkling, Radial dev... OMIM:269880
Kniest Dysplasia
Platyspondyly, Short neck, Respiratory distress, Coronal cleft vertebrae, Hypoplastic pelvis, Fla... OMIM:156550
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Prematurely aged appearance, Joint laxity, Recurrent fractures, Complex palmar derm... OMIM:248010
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... ORPHA:457395
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Nicolaides-Baraitser Syndrome
Scoliosis, Broad distal phalanx of finger, Abnormality of finger, Anteverted nares, Abnormality o... ORPHA:3051
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Restrictive ventilatory defect, Atlantoaxial instabil... OMIM:183900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Acromicric Dysplasia
Short phalanx of finger, Bulbous nose, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot,... OMIM:102370
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Geroderma Osteodysplastica
Scoliosis, Platyspondyly, Prematurely aged appearance, Osteoporosis, Abnormal bone ossification, ... ORPHA:2078
Idiopathic Pulmonary Fibrosis
Clubbing of fingers, Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiecta... ORPHA:2032
Progeroid Facial Appearance With Hand Anomalies
Joint contracture of the 5th finger, Progeroid facial appearance, Cutaneous finger syndactyly, Pr... OMIM:602249
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Respiratory distress, Abnormal nasop... OMIM:157900
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Cyanosis And Hepatic Disease
Clubbing, Cyanosis, Dyspnea OMIM:219400
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Short phalanx of finger, Joint la... OMIM:612350
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Bulbous nose, Short nose, Ventricular septal defec... OMIM:613458
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... OMIM:223800
Congenital Disorder Of Glycosylation, Type Iy
Scoliosis, Clinodactyly, Respiratory distress OMIM:300934
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death, Respiratory failure OMIM:301021
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Farber Disease
Osteoporosis, Respiratory distress, Recurrent upper respiratory tract infections, Abnormality of ... ORPHA:333
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Short distal phalanx of finger, Sandal gap, ... OMIM:311300
Cog5-Cdg
Genu valgum, Camptodactyly of finger, Finger clinodactyly, Premature skin wrinkling, Wide nasal b... ORPHA:263487
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentat... ORPHA:66637
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Anteverted nares, Respiratory distress, Kyphoscoliosis OMIM:618006
Geroderma Osteodysplasticum
Osteoporosis, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodies, Camptodacty... OMIM:231070
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Premature skin wrinkling, Wide nasal bridge ORPHA:1942
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Choanal Atresia
Craniosynostosis, Respiratory distress, Polydactyly, Abnormal nasal mucus secretion, Tracheomalac... ORPHA:137914
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Progeroid facial appearanc... OMIM:608154
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Gaucher Disease Type 2
Respiratory distress, Cough, Flexion contracture, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Muscular ventricular septal defec... ORPHA:363444
Short-Rib Thoracic Dysplasia 12
Short toe, Patent foramen ovale, Broad palm, Ventricular septal defect, Hypoplastic scapulae, Sho... OMIM:269860
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... ORPHA:85438
Dermatosparaxis Ehlers-Danlos Syndrome
Hip dysplasia, Scoliosis, Osteoporosis, Rickets, Joint hyperflexibility, Avascular necrosis of th... ORPHA:1901
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Dyspnea, Respiratory distress, Cough, Triceps weakness, Lumbar hyperlordosis, Spinal r... ORPHA:86812
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Prematurely aged appearance, Premature graying of hair, Kyphosis, Reduced bone mineral... ORPHA:2617
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metac... ORPHA:163966
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Fontaine Progeroid Syndrome
Scoliosis, Prematurely aged appearance, Craniosynostosis, Death in infancy, Respiratory insuffici... OMIM:612289
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Pulmonary Fibrosis, Idiopathic
Clubbing of fingers, Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Co... OMIM:178500
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Fg Syndrome Type 1
Progressive flexion contractures, Atrial septal defect, Abnormal thumb morphology, Facial wrinkli... ORPHA:93932
Aspergillosis
Abnormality of long bone morphology, Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal trache... ORPHA:1163
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Opitz-Kaveggia Syndrome
Broad thumb, Abnormal nasopharynx morphology, Short neck, Facial wrinkling, Abnormal heart morpho... OMIM:305450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Arthrogryposis multiplex congenita, Short neck, Bulbous nose, Stillbirth, Anteverted nares, 2-3 t... OMIM:236500
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iu
Scoliosis, Respiratory distress, Short nose, Death in infancy, Congenital contracture, Neonatal r... OMIM:615042
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Platyspondyly, Large ta... OMIM:215150
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Diaphanospondylodysostosis
Lumbosacral meningocele, Short neck, Respiratory distress, Short nose, Respiratory insufficiency,... OMIM:608022
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect OMIM:611363
Campomelic Dysplasia
Apnea, Hypoplastic cervical vertebrae, Respiratory distress, Poorly ossified cervical vertebrae, ... OMIM:114290
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Respiratory ins... OMIM:228940
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Underdeveloped nas... OMIM:180870
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Anteverted nares, Short nose, Laryngeal hypoplasia, Abnormality of the lary... OMIM:217980
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Respirato... OMIM:187601
Chitayat Syndrome
Respiratory distress, Anteverted nares, Tracheomalacia, Abnormal pulmonary interstitial morpholog... OMIM:617180
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Prematurely aged appearance, Ulnar deviation of finger, Abnormal distal... ORPHA:1387
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Clubbing of fingers, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pul... OMIM:614742
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Respiratory distress, Ventricular septal defect, Hypoplastic ilia, Post... OMIM:617895
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Respiratory distress, Cardiomyopathy ORPHA:26792
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... OMIM:255980
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Widening of cervical spinal canal, Respiratory insufficiency, Cervical vertebral bodies ... OMIM:606842
Arthrogryposis, Distal, Type 2B1
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Absen... OMIM:601680
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Pear-shaped nose, Scoliosis, Short metatarsal, Short phalanx of finger, Underdevelope... OMIM:190351
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Noonan Syndrome 11
Palmoplantar cutis laxa, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Infantile-Onset X-Linked Spinal Muscular Atrophy
Arthrogryposis multiplex congenita, Respiratory distress, Respiratory insufficiency, Interphalang... ORPHA:1145
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Respiratory distress, Ventilator dependence with inability to wean, Respiratory insuff... ORPHA:254875
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Increased susceptibility to fracture... OMIM:166250
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Joint hyperflexibility, Cutis laxa, Flexion contracture, Progeroid fac... ORPHA:75496
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Respiratory distress, Patent foramen ovale, Wide nasal ... ORPHA:89844
Myopathy And Diabetes Mellitus
Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tendon contracture, Respir... ORPHA:2596
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... OMIM:616733
Laron Syndrome
Short toe, Prematurely aged appearance, Abnormality of the elbow, Hypoplastic nasal bridge, Aplas... ORPHA:633
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... ORPHA:93259
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Short metacarpal, Broad phalanx, Intrauterine growth retardation, Broad ... OMIM:618724
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Smith-Mccort Dysplasia 2
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Pulmonary Capillary Hemangiomatosis
Clubbing of fingers, Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, El... ORPHA:199241
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hip dysplasia, Scoliosis, Joint hypermobility, Finger joint hypermobility, Respiratory distress, ... ORPHA:544503
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Respiratory tract infection, Hyperlordosis, Sleep apnea, Osteoporosis, Respiratory dis... ORPHA:365
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Respiratory distress, Camptodactyly, Ankle flexion contracture, Small han... OMIM:608799
Congenital Laryngeal Web
Abnormal cardiac septum morphology, Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Abnormality of epiphysis morphology, Absent ossification of capital femoral... ORPHA:226313
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Respiratory insufficiency, Pathologic fracture, Pulmonary art... OMIM:601559
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Ogden Syndrome
Scoliosis, Minimal subcutaneous fat, Atrial septal defect, Facial wrinkling, Underdeveloped nasal... OMIM:300855
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonic stenosis, ... ORPHA:2414
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Cutis Laxa, Autosomal Dominant 1
Redundant skin, Emphysema, Prematurely aged appearance, Progeroid facial appearance OMIM:123700
Stüve-Wiedemann Syndrome
Scoliosis, Abnormality of the metaphysis, Elbow flexion contracture, Thickened cortex of long bon... ORPHA:3206
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:617044
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Respiratory distress OMIM:618188
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Succinic Acidemia
Respiratory distress OMIM:600335
Larsen Syndrome
Scoliosis, Short metatarsal, Joint laxity, Elbow dislocation, Spina bifida occulta, Bronchomalaci... OMIM:150250
Arterial Tortuosity Syndrome
Scoliosis, Prematurely aged appearance, Craniosynostosis, Pulmonary artery stenosis, Myocarditis,... ORPHA:3342
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant chondrocytes in... OMIM:108720
Keppen-Lubinsky Syndrome
Scoliosis, Narrow naris, Dyspnea, Underdeveloped nasal alae, Premature skin wrinkling, Flexion co... ORPHA:435628
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Joint laxity, Flat acetabular roof, T... OMIM:615777
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, P... ORPHA:3015
Cardiac-Valvular Ehlers-Danlos Syndrome
Hypermobility of distal interphalangeal joints, Genu valgum, Recurrent shoulder dislocation, Atri... ORPHA:230851
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Ventricular hypertrophy, Exertional dyspnea, Limited shoulder movement, J... ORPHA:740
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... OMIM:300863
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Short neck, Bulbous nose, Camptodac... OMIM:615065
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypopla... OMIM:619003
Three M Syndrome 3
Hip dysplasia, Prominent calcaneus, Hyperlordosis, Increased vertebral height, Short neck, Joint ... OMIM:614205
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:261243
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Bowing of the long bones... OMIM:187600
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Abnormal pericardium morphology, Respiratory insufficiency, Atelectasis, Hemopt... ORPHA:340
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Glutamine Deficiency, Congenital
Apnea, Short nose, Camptodactyly, Flexion contracture, Wide nasal bridge, Erythema, Neonatal resp... OMIM:610015
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Pallor, Ventricular septal defect ORPHA:49827
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Hypoventilation, Flexion contracture, Respiratory insufficiency, Atelec... ORPHA:258
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Progeroid Syndrome, Petty Type
Prematurely aged appearance, Redundant skin, Cutis laxa, Short distal phalanx of finger, Decrease... ORPHA:2963
Granddad Syndrome
Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Progeroid facial appearance... OMIM:138920
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Short neck, Respiratory distress, Short sternum, Aplasia of the ulna, S... OMIM:266910
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Congenital hip dislocation, Respiratory distress, Flexion contracture, Multip... OMIM:271225
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Joint laxity, Palmoplantar cutis laxa, Decreased pulmonary function, Kyphosis, Brui... OMIM:225400
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Shwachman-Diamond Syndrome 1
Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, R... OMIM:260400
Vertical Talus, Congenital
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis OMIM:192950
Cleidocranial Dysplasia
Scoliosis, Hypoplastic frontal sinuses, Increased bone mineral density, Increased susceptibility ... OMIM:119600
Relapsing Polychondritis
Dyspnea, Pericarditis, Purpura, Abnormal endocardium morphology, Cough, Abnormal aortic valve mor... ORPHA:728
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology OMIM:614954
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Generalized bone demineralization, Short phalanx of finger, E... OMIM:143095
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Muscular ventricular septal defect ORPHA:66634
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... ORPHA:93260
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dyspnea, Respiratory distress, Kyphosis, Respiratory insufficiency, Hand muscle atroph... OMIM:211530
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Respiratory failure, Death ... OMIM:619334
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin ORPHA:1035
Shashi-Pena Syndrome
Atrial septal defect OMIM:617190
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Respiratory insufficiency, Neonatal death, Bilateral lung agenesis, Abnormal ca... OMIM:601612
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Short phala... OMIM:114300
Tetrasomy 5P
Short hallux, Short neck, Respiratory distress, Overlapping toe, Short nose, Wide nasal bridge, R... ORPHA:3309
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Campomelia, Cumming Type
Prematurely aged appearance, Bowing of the long bones, Death in infancy, Abnormally ossified vert... ORPHA:1318
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent forame... OMIM:618652
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short metatarsal, Short phalanx of finger, Short nose, Joint laxity, Shor... ORPHA:439822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... OMIM:250220
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Arthrogryposis multiplex congenita, Calcaneovalgus deformity OMIM:162370
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density, Upper limb asymmetry, Excessive wrinkled skin ORPHA:137608
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Upper airway obstruction, Neoplas... ORPHA:142
Episodic Ataxia Type 1
Hand clenching, Scoliosis, Respiratory distress, Kyphoscoliosis ORPHA:37612
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Premature graying of hair, Premature skin wrinkling, Mitral valve calcif... ORPHA:363618
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Arthralgia/arthritis, Decreased pulmon... ORPHA:449280
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
17Q23.1Q23.2 Microdeletion Syndrome
Coxa magna, Scoliosis, Atrial septal defect, Dyspnea, Bulbous nose, Abnormality of epiphysis morp... ORPHA:261279
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Abnormal heart morphology, Polydactyly,... ORPHA:314655
Synaptic Congenital Myasthenic Syndromes
Scoliosis, Limited wrist extension, Hand muscle weakness, Sleep apnea, Scapular winging, Respirat... ORPHA:98915
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Pulmonary ly... ORPHA:538
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Scoliosis, Atrial septal defect, Respiratory distress, Bulbous nose, Joint laxity,... OMIM:300968
Weaver Syndrome
Scoliosis, Broad thumb, Camptodactyly, Cutis laxa, Metatarsus adductus, Prominent fingertip pads,... OMIM:277590
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
De Barsy Syndrome
Congenital hip dislocation, Prominent veins on trunk, Dermal translucency, Ventricular septal def... ORPHA:2962
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Anteverted nares, Short nose, Cone-shaped epiphysis, S... OMIM:614613
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Lower limb undergrowth, Joint stif... OMIM:127200
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular hypertrophy, Ventricular septal defect OMIM:612946
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Respiratory distress, Flared iliac wing, Flexion contracture, Recurrent bro... OMIM:617303
Progeria-Short Stature-Pigmented Nevi Syndrome
Prematurely aged appearance, Central sleep apnea, Lack of facial subcutaneous fat, Progeroid faci... ORPHA:2959
22Q11.2 Deletion Syndrome
Scoliosis, Bulbous nose, Choanal atresia, Short neck, Truncus arteriosus, Purpura, Joint hyperfle... ORPHA:567
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect OMIM:300887
Hypomandibular Faciocranial Dysostosis
Atrial septal defect OMIM:241310
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Wiedemann-Rautenstrauch Syndrome
Joint hypermobility, Prominent scalp veins, Long toe, Thin long bone diaphyses, Hypoplastic verte... ORPHA:3455
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Elbow dislocation, Phalangeal dislocation, Pericardial effusion, Sandal gap,... ORPHA:536532
Three M Syndrome 2
Prominent calcaneus, Hyperlordosis, Scapular winging, Anteverted nares, Slender long bone, Lumbar... OMIM:612921
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Noonan Syndrome With Multiple Lentigines
Scoliosis, Scapular winging, Abnormal mitral valve morphology, Abnormal endocardium morphology, A... ORPHA:500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Bulbous nose, Tapered toe, Respiratory insufficiency, Long toe, Resp... OMIM:608836
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Overlapping fingers, Scoliosis, Atrial septal defect, Respiratory distress, Overlapping toe, Shor... OMIM:619383
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Short phalanx of finger, Pericardial effusion, Wide nasal bridge, Clinodactyly, Small hand, Broad... OMIM:614684
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Increased susceptibility to fractures, Short neck, Wide nose, Slender finger, Osteop... ORPHA:251028
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Li-Campeau Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect OMIM:619189
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Joint laxity, Elbow dislocation, Camptodactyly, Hemivertebrae, Genu valgum,... OMIM:224690
Focal Facial Dermal Dysplasia Type Iii
Redundant skin, Prematurely aged appearance, Wide nasal bridge, Abnormal sacroiliac joint morphology ORPHA:1807
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates, Arthritis ORPHA:375
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Larsen-Like Syndrome
Absent nasal bridge, Joint laxity, Radial deviation of the 4th finger, Kyphoscoliosis, Talipes eq... OMIM:608545
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Congenital hip dislocation, Short nose, Recurrent upper respiratory tract inf... ORPHA:3078
Esophageal Atresia
Scoliosis, Laryngotracheomalacia, Choanal atresia, Cyanosis, Respiratory distress, Aspiration, Cl... ORPHA:1199
Malaria
Respiratory distress ORPHA:673
Hypertelorism And Tetralogy Of Fallot
Patent foramen ovale, Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Spina... OMIM:239711
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Prematurely aged appearance, Choanal atresia, Abnormality of the metacarpal bones, Inc... ORPHA:2658
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Nicolaides-Baraitser Syndrome
Scoliosis, Short metatarsal, Short phalanx of finger, Anteverted nares, Sandal gap, Prominent int... OMIM:601358
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Congenital hip disloca... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Congenital hip disloca... ORPHA:98914
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Craniosynostosis, Short metatarsal, Short phalanx of finger, B... ORPHA:1826
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pulmonic stenosis, Left... OMIM:615355
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Focal Facial Dermal Dysplasia 3, Setleis Type
Bulbous nose, Aged leonine appearance, Depressed nasal bridge OMIM:227260
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... OMIM:228900
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Seckel Syndrome
Hip dysplasia, Scoliosis, Prematurely aged appearance, Craniosynostosis, Joint hyperflexibility, ... ORPHA:808
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia OMIM:615879
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Short femur, Premature skin wrinkling, Hypoplastic ilia, Flexion contracture, Large ha... OMIM:264090
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Wrinkly Skin Syndrome
Scoliosis, Deep palmar crease, Joint hypermobility, Scapular winging, Congenital hip dislocation,... OMIM:278250
Wiedemann-Steiner Syndrome
Short phalanx of finger, Short middle phalanx of finger, Sacral dimple, Wide nasal bridge, Short ... OMIM:605130
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Cardiomegaly, Respiratory insufficiency, Atelectasis OMIM:618278
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Short phalanx of finger, Premature graying of hair, Abnormal hand morphol... OMIM:300845
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short nose, Congenital hip dislocation, Prominent veins on trunk, Generalized joint laxity, Redun... ORPHA:357074
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Dyspnea, Epistaxis, Abnormal pulmonary interstitial mor... OMIM:230800
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Abnormal heart morphology ORPHA:401935
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Hypoxemi... ORPHA:747
Xfe Progeroid Syndrome
Scoliosis, Prematurely aged appearance, Dry skin OMIM:610965
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy... OMIM:108900
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Autosomal Recessive Cutis Laxa Type 2A
Joint hypermobility, Congenital hip dislocation, Progeroid facial appearance, Excessive wrinkled ... ORPHA:357058
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Tracheal calcification... OMIM:271665
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent foramen ovale, Atrial septal defect OMIM:601450
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Respiratory distress OMIM:615597
Microlissencephaly-Micromelia Syndrome
Short neck, Short nose, Respiratory distress, Bilateral single transverse palmar creases, Adducte... ORPHA:50810
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Calcaneovalgus deformity, Joint laxity, Bruising susceptibility OMIM:225320
Cardiofaciocutaneous Syndrome
Scoliosis, Cubitus valgus, Genu valgum, Deep palmar crease, Atrial septal defect, Short nose, Pal... ORPHA:1340
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Ataxia-Telangiectasia
Prematurely aged appearance, Premature graying of hair, Telangiectasia of the skin, Mucosal telan... ORPHA:100
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Atrial septal defect, Bruising susceptibility, Poor wound healing OMIM:619115
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Atrial septal defect, Transposition of the great arteries, Ventricular septa... ORPHA:1913
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormal lung morphology, Dyspnea, Osteolysis, Abnormality of the is... ORPHA:464329
Martsolf Syndrome 1
Short phalanx of finger, Broad nasal tip, Joint laxity, Cardiomyopathy, Slender ulna, Short metac... OMIM:212720
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Bulbous nose, Acetabular dy... ORPHA:508533
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Short Syndrome
Joint hyperflexibility, Wide nasal bridge, Brachydactyly, Excessive wrinkled skin, Short palm ORPHA:3163
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Atrial septal defect, Respiratory distress, Short nose, Ventricular se... OMIM:610536
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Atrial septal defect, Respiratory distress, Ventricular septal defect... ORPHA:2519
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect OMIM:249270
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibilit... ORPHA:534
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Dyspnea, Pulmonary fibrosis, Flexion contracture, Telangiectasia of the skin, Pulmona... ORPHA:220393
Agnathia-Otocephaly Complex
Situs inversus totalis, Respiratory distress, Laryngeal hypoplasia, Tracheomalacia, Hypoplasia of... OMIM:202650
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyly, Bulbous n... OMIM:170390
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Prominent calcaneus, Short toe, Short finger, A... ORPHA:2980
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Atrial septal defect, Redundant skin, Hydrocephalus ORPHA:93274
Zygomycosis
Air crescent sign, Osteolysis, Endocarditis, Pericarditis, Parenchymal consolidation, Pleural eff... ORPHA:73263
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Gaucher Disease, Perinatal Lethal
Apnea, Arthrogryposis multiplex congenita, Respiratory distress, Short nose, Purpura, Desquamatio... OMIM:608013
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Hydrocephalus OMIM:611134
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, ... OMIM:612561
Craniosynostosis And Dental Anomalies
Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis, Sagittal craniosynostosis... OMIM:614188
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finge... OMIM:101800
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle... OMIM:179613
Congenital Rubella Syndrome
Jaundice, Atrial septal defect, Ventricular septal defect ORPHA:290
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Scimitar Syndrome
Single ventricle, Cough, Bronchogenic cyst, Dextrocardia, Double outlet right ventricle, Pulmonar... ORPHA:185
Eosinophilia, Familial
Recurrent bronchitis, Pulmonary infiltrates, Myocardial eosinophilic infiltration OMIM:131400
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Craniosynostosis, Mitral valve prolapse, Kyphosis, Progeroid facial appearance,... OMIM:616914
Thanatophoric Dysplasia
Redundant skin, Atrial septal defect, Hydrocephalus ORPHA:2655
Hypoglossia With Situs Inversus
Upper airway obstruction, Situs inversus totalis, Respiratory distress OMIM:612776
Mcdonough Syndrome
Pulmonic stenosis, Aortic valve stenosis, Atrial septal defect, Ventricular septal defect OMIM:248950
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Joint laxity, Redundant skin, Limb undergrowth, Fragile skin, Spontaneou... OMIM:225410
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Respiratory distress, Osteopenia, Contractures of the large joints, Recurr... ORPHA:329178
Pseudoxanthoma Elasticum
Scoliosis, Abnormal endocardium morphology, Restrictive cardiomyopathy, Joint hyperflexibility, B... ORPHA:758
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Abnormal vertebral morpholog... ORPHA:210122
Gapo Syndrome
Prematurely aged appearance, Anteverted nares, Abnormal form of the vertebral bodies, Joint hyper... ORPHA:2067
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Cutis laxa, Hemivertebrae, ... ORPHA:96334
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Bicuspid aortic valve OMIM:613355
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Respiratory distress, Pulmonary fibrosis, Osteopenia, Fused cervical ver... OMIM:612852
Werner Syndrome
Osteoporosis, Rocker bottom foot, Prematurely aged appearance, Premature graying of hair, Subcuta... ORPHA:902
Cutis Laxa, Autosomal Recessive, Type Iiib
Cutis laxa, Elbow flexion contracture, Excessive wrinkled skin, Dermal translucency OMIM:614438
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Double outlet right ventricle, Patent foramen ov... OMIM:618316
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Pulmonary infiltrates, Endocardial fibrosis OMIM:607685
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormal heart morphology, Bone cyst, Pulmonary cyst, Jaundi... ORPHA:400
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:614261
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Boomerang Dysplasia
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic nasal septum, Neonatal death, Hypoplast... OMIM:112310
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Codas Syndrome
Scoliosis, Genu valgum, Squared iliac bones, Atrial septal defect, Short phalanx of finger, Conge... OMIM:600373
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Feingold Syndrome Type 1
Multiple muscular ventricular septal defects, Tricuspid stenosis, Tricuspid atresia, Abnormal hea... ORPHA:391641
Mental Retardation, Buenos Aires Type
Atrial septal defect, Hydrocephalus OMIM:249630
Aplasia Cutis Congenita
Spinal dysraphism, Skin ulcer ORPHA:1114
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morp... ORPHA:1120
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Mental Retardation, Autosomal Recessive 65
Atrial septal defect OMIM:618109
Down Syndrome
Prematurely aged appearance, Short neck, Short nose, Joint laxity, Bilateral single transverse pa... ORPHA:870
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Megalencephaly
Atrial septal defect ORPHA:2477
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Myelofibrosis, Pulmonary fibrosis, Urticaria, Pleural effusion, Co... ORPHA:3260
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Dry skin, Atelectasis ORPHA:1401
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Camptodactyly of finger, Hyperlordosis, Short metatarsal, Bulbous nose, Shortening of ... ORPHA:77258
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici... ORPHA:367
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Abnormality of the calcaneus, Hypoplastic nasal septum, Aplasia/hy... ORPHA:40366
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Shoul... OMIM:274000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Stt3B-Cdg
Intrauterine growth retardation, Respiratory distress ORPHA:370924
3C Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:7
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Myocardi... ORPHA:183
Frank-Ter Haar Syndrome
Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right ventricle, Corti... OMIM:249420
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Deep palmar crease, Atrial septal defect, Short neck, Respiratory distress, Short nose, Patent fo... ORPHA:505248
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Holocarboxylase Synthetase Deficiency
Desquamation of skin soon after birth, Tachypnea, Respiratory distress ORPHA:79242
X-Linked Intellectual Disability, Hedera Type
Scoliosis, Left ventricular hypertrophy, Calcaneovalgus deformity, Hyporeflexia of upper limbs ORPHA:93952
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Prader-Willi Syndrome Due To Translocation
Scoliosis, Short neck, Respiratory distress, Overlapping toe, Broad nasal tip, Clinodactyly of th... ORPHA:177907
Beare-Stevenson Cutis Gyrata Syndrome
Limited elbow extension, Craniosynostosis, Respiratory distress, Palmoplantar cutis laxa, Choanal... OMIM:123790
20P12.3 Microdeletion Syndrome
Atrial septal defect ORPHA:261295
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Cockayne Syndrome
Scoliosis, Premature skin wrinkling, Abnormality of epiphysis morphology, Kyphosis, Reduced subcu... ORPHA:191
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Atrial septal defect, Hypertrophic cardiomyopathy ORPHA:1842
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect OMIM:600987
Bacterial Toxic-Shock Syndrome
Ecchymosis, Respiratory tract infection, Respiratory distress, Scaling skin, Pneumonia, Septic ar... ORPHA:36234
Chromosome 2Q37 Deletion Syndrome
Subvalvular aortic stenosis, Short toe, Short metatarsal, Short phalanx of finger, Broad nasal ti... OMIM:600430
Frontoocular Syndrome
Pulmonic stenosis, Atrial septal defect OMIM:605321
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:619149
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect OMIM:208085
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect OMIM:603387
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Arachnodactyly, Respiratory failure, Respiratory distress ORPHA:2707
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Tetralogy of Fallot, ... ORPHA:261183
Trichothiodystrophy
Prematurely aged appearance, Craniosynostosis, Bronchospasm, Ventricular septal defect, Thoracic ... ORPHA:33364
Hypoplastic Left Heart Syndrome
Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral atresia ORPHA:2248
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect OMIM:608406
Abruzzo-Erickson Syndrome
Atrial septal defect ORPHA:921
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge OMIM:231680
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Complete atrioventricular canal defect, Crackles, D... ORPHA:1329
Immunodeficiency 27A
Salmonella osteomyelitis, Pneumonia, Abnormal bronchus physiology, Pulmonary infiltrates, Hypopla... OMIM:209950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618142
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:613870
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... OMIM:306955
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Partial atrioventricular ... ORPHA:1330
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... ORPHA:141127
Hereditary Angioedema Type 1
Dyspnea, Abnormal respiratory system morphology, Respiratory distress, Inspiratory stridor, Phary... ORPHA:100050
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Anteverted nares, Subglottic stenosis, Pneumonia, Limb underg... OMIM:617809
Wrinkly Skin Syndrome
Deep palmar crease, Congenital hip dislocation, Prominent veins on trunk, Atrial septal dilatatio... ORPHA:2834
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect ORPHA:466926
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect OMIM:178650
Teebi Hypertelorism Syndrome
Atrial septal defect, Ventricular septal defect OMIM:145420
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, Progressive flexion contractures, Sleep apnea, Atrial septal defect, Short nose, Joint... ORPHA:522077
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Atrial septal defect, Pallor, Ventricular septal defect OMIM:609053
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Noonan Syndrome 5
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Dry skin OMIM:611553
Fusariosis
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... ORPHA:228119
Coccidioidomycosis
Abnormality of long bone morphology, Osteolysis, Respiratory distress, Abnormality of the vertebr... ORPHA:228123
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect OMIM:617360
Subaortic Stenosis--Short Stature Syndrome
Short phalanx of finger, Broad toe, Short nose, Membranous subvalvular aortic stenosis, Short foo... OMIM:271960