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
Umbilical hernia, Ventricular septal defect, Cardiomegaly 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
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death OMIM:620203
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Deat... OMIM:184260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... OMIM:610978
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Perching Syndrome
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Transaldolase Deficiency
Atrial septal defect, Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia ORPHA:101028
Waardenburg Syndrome Type 3
Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis, Abnormal finger morphology... ORPHA:896
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... ORPHA:141152
Dermatoleukodystrophy
Premature skin wrinkling, Large hands, Progeroid facial appearance OMIM:221790
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... ORPHA:2902
Stuve-Wiedemann Syndrome 1
Apnea, Single transverse palmar crease, Short neck, Knee flexion contracture, Femoral bowing, Tib... OMIM:601559
Bronchogenic Cyst
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal peric... ORPHA:2357
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros... OMIM:132400
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Aquagenic Palmoplantar Keratoderma
Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s... ORPHA:498359
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Respiratory distress, Prominent superficial veins, Bicuspid aortic valv... ORPHA:363705
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Anterior atl... ORPHA:536467
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ... OMIM:151210
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Scoliosis, Cutis laxa OMIM:614434
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Small hand, Skin ulcer, Short foot, Join... ORPHA:2500
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... OMIM:177170
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Dermal translucency, Os odontoideum, Hip dislocation, Cutis laxa, Talip... OMIM:616603
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Odontochondrodysplasia
Respiratory distress, Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-sh... ORPHA:166272
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i... ORPHA:1860
Cog7-Cdg
Short neck, Long fingers, Jaundice, Abnormal finger morphology, Abnormal heart morphology, Excess... ORPHA:79333
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory... ORPHA:1143
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Abnor... ORPHA:83468
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... ORPHA:439
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... OMIM:620321
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi... ORPHA:254361
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Cutis marmorata OMIM:615297
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Progeroid facial appearance, Slender long bones with narrow ... ORPHA:50811
Arthrogryposis Multiplex Congenita 5
Death in infancy, Neonatal respiratory distress, Rocker bottom foot, Kyphoscoliosis, Short neck, ... OMIM:618947
Acromesomelic Dysplasia 2A
Death in infancy, Hypoplasia of the ulna, Short femur, Short humerus, Aplasia/Hypoplasia of the p... OMIM:200700
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... OMIM:619611
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... ORPHA:79127
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Microphthalmia, Syndromic 8
Premature skin wrinkling, Split foot OMIM:601349
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... OMIM:615222
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Polydactyly, Bronchiolitis OMIM:615993
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death, Joint hypermobility OMIM:300219
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metap... ORPHA:1423
Nicolaides-Baraitser Syndrome
Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Excessive wrinkled skin, Ab... ORPHA:3051
Houge-Janssens Syndrome 3
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect OMIM:618354
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Alg8-Cdg
Abnormality of subcutaneous fat tissue, Cutis laxa, Talipes equinovarus, Camptodactyly, Intrauter... ORPHA:79325
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Kniest Dysplasia
Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed... OMIM:156550
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Geroderma Osteodysplastica
Beaking of vertebral bodies, Prematurely aged appearance, Recurrent fractures, Redundant skin, Os... ORPHA:2078
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Arthrogryposis, Distal, Type 1A
Hip contracture, Decreased hip abduction, Congenital hip dislocation, Single transverse palmar cr... OMIM:108120
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Prominent superficial veins, Thoracic scoliosis, Prematurely aged appe... OMIM:618000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Dyspnea, Hemiv... ORPHA:2759
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Short neck, Atelectasis, Sho... OMIM:269860
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Diaphanospondylodysostosis
Respiratory distress, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodi... ORPHA:66637
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... OMIM:115197
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short... OMIM:183900
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Redundan... OMIM:613177
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m... OMIM:617102
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Clinodactyly, Scoliosis OMIM:300934
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Prominent superficial veins, Camptodactyly of finger,... OMIM:612350
Interstitial Lung Disease 2
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... OMIM:178500
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Clinodactyly, Split hand, Abnormal p... OMIM:157900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Farber Disease
Respiratory distress, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Sh... ORPHA:333
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Short Syndrome
Joint laxity, Enlarged epiphyses, Prominent superficial veins, Slender long bone, Premature skin ... OMIM:269880
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Dermal translucency, Redundant neck skin, Prematurely aged appearance, ... ORPHA:90348
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... ORPHA:77260
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Respiratory distress... OMIM:613848
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Clubbing, Bronchiecta... ORPHA:60033
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... OMIM:102370
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Progeroid facial appearance, Genu valgum, Slender long bones with narrow diaphyses, D... OMIM:608154
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Cardiomyopathy, Scoliosis, ... ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 36
Premature skin wrinkling OMIM:617950
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Kyphosis, Reduced bone mineral density, Premature graying of hair, V... ORPHA:2617
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Cog5-Cdg
Camptodactyly of finger, Short neck, Genu valgum, Finger clinodactyly, Intrauterine growth retard... ORPHA:263487
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Muscular ventricular septal defect, Perimembranous ventricular septal defec... ORPHA:363444
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Recurrent respiratory infections, Sandal gap, Single t... OMIM:601358
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects OMIM:620070
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Coxa valga, Av... ORPHA:1901
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... OMIM:607326
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Redundant skin, Atrial septal defect, Neonatal death, Recurrent aspiration... OMIM:612289
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Re... OMIM:612940
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Fg Syndrome Type 1
Limited elbow extension and supination, Finger syndactyly, Broad toe, Progressive flexion contrac... ORPHA:93932
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture, Kyphoscoliosis OMIM:617977
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Myoclonic-Astatic Epilepsy
Syndactyly, Premature skin wrinkling ORPHA:1942
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... ORPHA:137914
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect, Prolonged ne... OMIM:117550
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Redundant skin, Kyphosis, ... OMIM:616482
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... ORPHA:2414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Multiple joint contractures, Broad hallux, Single transverse palmar cr... OMIM:305450
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Intrauterine growth retardation, Broad phalanx, Short phalanx of finger, Broad ... OMIM:618724
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Crackles, Dyspnea, Premature graying of hair, Clubbing of fingers, Reticular pattern ... OMIM:614742
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar... OMIM:618150
Cataract-Intellectual Disability-Hypogonadism Syndrome
Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Abnormality of the han... ORPHA:1387
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc... OMIM:615042
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Palmoplantar cutis laxa OMIM:618499
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot, Metatarsus adductus, C... OMIM:601680
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, H... OMIM:617895
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... OMIM:616733
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... OMIM:611717
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Premature osteoarthritis, Flexion... OMIM:215150
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation ORPHA:26792
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Chitayat Syndrome
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Abnormal pulmonary interst... OMIM:617180
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Short ... ORPHA:2756
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve... OMIM:610910
De Barsy Syndrome
Osteopenia, Recurrent sinopulmonary infections, Dermal translucency, Congenital hip dislocation, ... ORPHA:2962
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... OMIM:244400
Greenberg Dysplasia
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Abnormal lung ... OMIM:215140
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... OMIM:190351
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakne... OMIM:613561
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Long toe, Arachnodactyly, Progeroid facial appearance, Kyphoscoliosis, Palmoplantar c... ORPHA:75496
Otospondylomegaepiphyseal Dysplasia
Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone mor... ORPHA:1427
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... OMIM:151200
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Abnormal heart valve morphology, Sandal gap, Recurrent shoulder dislocation, Poor ... ORPHA:230851
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Hyperlordosis, Atelectasis, Flexion contracture, Respiratory insufficiency, Card... ORPHA:258
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, ... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir... ORPHA:2596
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Rocker bottom foot, Atrial septal defect, Intrauterine growth retardation, ... ORPHA:89844
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Delay... OMIM:114290
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Single transverse p... OMIM:114300
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Dyspnea, Flexion contracture, Recurrent pneumonia, Upper airway obst... ORPHA:435628
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti... ORPHA:56304
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp... ORPHA:544503
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Redundant skin, Cardiomegaly, Secundum ... OMIM:300855
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion... OMIM:608799
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... OMIM:194350
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in... OMIM:187601
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Int... ORPHA:2963
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... OMIM:271225
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Short phalanx of finger, Genu ... OMIM:615777
Radio-Renal Syndrome
Respiratory distress, Micromelia, Short neck, Dyspnea, Hypoplasia of the radius, Abnormality of t... ORPHA:3015
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Re... OMIM:211530
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Neonatal respiratory distress, Short neck, Metatarsus adductus, Calcaneovalgus d... OMIM:616266
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab... ORPHA:740
Congenital Vertical Talus
Achilles tendon contracture, Distal arthrogryposis, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Osteoglophonic Dysplasia
Osteopenia, Respiratory distress, Short neck, Short metatarsal, Short palm, Short phalanx of fing... OMIM:166250
Alg12-Cdg
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Redundant skin ORPHA:79324
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulm... OMIM:612387
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n... ORPHA:226313
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology OMIM:614954
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Myocarditis, Nonproductive cough, Atelectasis, Rhinit... ORPHA:319213
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Prominent superficial veins, Flexion contracture, Osteoporosis, Elbow flexion contrac... OMIM:614438
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl... OMIM:217980
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Three M Syndrome 3
Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac... OMIM:614205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Pallor ORPHA:49827
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor w... OMIM:225400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax... ORPHA:199241
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent forame... OMIM:618652
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Meier-Gorlin Syndrome 1
Respiratory distress, Flexion contracture, Flat glenoid fossa, Hemivertebrae, Cutaneous finger sy... OMIM:224690
Idiopathic Pulmonary Hemosiderosis
Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dyspnea, Diffuse alveolar hemorrhage, ... ORPHA:99931
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... OMIM:615996
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Limitation of joint mobility... ORPHA:728
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Succinic Acidemia
Respiratory distress OMIM:600335
Laron Syndrome
Prematurely aged appearance, Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly ORPHA:633
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Premature graying of hair, Premat... ORPHA:363618
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Overlapping toe, Cya... ORPHA:3309
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Recurrent fractures, Upper limb asymmetry, Reduced bone mineral density ORPHA:137608
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Short neck, Secundum atrial septal defect, Neonatal asphyxia, Jaundice, Respira... OMIM:608779
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... OMIM:260400
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv... OMIM:150250
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Overtubulated long bones, Short clavicles, Intrauterine growth re... OMIM:619793
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... ORPHA:1318
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platys... OMIM:300863
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Wiedemann-Rautenstrauch Syndrome
Short neck, Secundum atrial septal defect, Flexion contracture, Genu varum, Long toe, Prematurely... OMIM:264090
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Redundant skin, Cutis laxa, Excessive wrinkled skin, Scoliosis, Intra... OMIM:219200
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Sco... OMIM:619383
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Chylopericardium, Pulmonary... ORPHA:538
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Short neck, Limited knee flexion, Hyperlordos... OMIM:615065
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Progeroid facial appearance, Increased susceptibility to fractures, E... ORPHA:357058
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Redundant skin, Equinus calcaneus, Prominent veins on trunk, Shou... ORPHA:536532
Werner Syndrome
Increased bone mineral density, Miscarriage, Rocker bottom foot, Prematurely aged appearance, Joi... ORPHA:902
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Congenital Myopathy 11
Atrial septal defect, Patent foramen ovale OMIM:619967
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Congenital hip dislocation, Redundant skin, Generalized joint laxity, Abnorm... ORPHA:357074
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Scapular winging, Neonatal respiratory distress, Limited w... ORPHA:98915
Spondylometaphyseal Dysplasia, Sedaghatian Type
Redundant skin, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... OMIM:250220
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radiu... OMIM:607143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... OMIM:618278
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Short neck, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Respir... ORPHA:562528
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Congenital hip dislocation, Redundant skin, Progeroid facial appear... OMIM:278250
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Congenital malformation of the left heart, Hypoplastic vertebral bodies, Long toe, 2-... ORPHA:3455
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect OMIM:612946
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin ORPHA:1035
Episodic Ataxia Type 1
Hand clenching, Kyphoscoliosis, Respiratory distress, Scoliosis ORPHA:37612
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... ORPHA:79128
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:220210
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial appearance, Prema... OMIM:123700
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Spina bif... ORPHA:500
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... ORPHA:3392
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Limited elbow movement, Joint stiffness, Pr... OMIM:614008
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,... OMIM:614613
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Seckel Syndrome
Sandal gap, Prematurely aged appearance, Craniosynostosis, Cone-shaped epiphysis, Joint hyperflex... ORPHA:808
22Q11.2 Deletion Syndrome
Short neck, Abnormal lung lobation, Atrial septal defect, Arachnodactyly, Atelectasis, Chronic pu... ORPHA:567
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth... ORPHA:439822
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Short neck, Recurrent bronchopulmonary in... OMIM:617303
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect OMIM:620184
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Respiratory distress ORPHA:240103
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Calcaneovalgus deformity, Bruising susceptibility, Mitral valve prolapse OMIM:225320
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hand poly... OMIM:314390
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Cleidocranial Dysplasia 1
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, ... OMIM:119600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly OMIM:614684
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Malaria
Respiratory distress ORPHA:673
Barber-Say Syndrome
Brachydactyly, Redundant skin, Talipes equinovarus, Clinodactyly of the 5th finger, Premature ski... OMIM:209885
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Recurrent fractures, Osteomalacia, Joint stif... ORPHA:534
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol... ORPHA:314655
Ataxia-Telangiectasia
Recurrent respiratory infections, Telangiectasia of the skin, Prematurely aged appearance, Premat... ORPHA:100
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Noonan Syndrome 8
Ventricular septal defect, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal defect, Hype... OMIM:615355
Zygomycosis
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Atelectasis, Pneumothorax, Osteolysis, Endocardi... ORPHA:73263
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Bruising susceptibility, Poor wound healing, Dermal translucency OMIM:619115
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough ORPHA:142
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Prematurely aged appearance, Redundant skin, A... ORPHA:2658
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metacarp... OMIM:108720
Thanatophoric Dysplasia Type 2
Encephalocele, Redundant skin, Hydrocephalus, Holoprosencephaly, Atrial septal defect ORPHA:93274
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Slender long bone, Short 5th f... OMIM:612921
Gaucher Disease, Perinatal Lethal
Respiratory distress, Purpura, Apnea, Cardiomegaly, Pulmonary hypoplasia, Neonatal death, Arthrog... OMIM:608013
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bron... ORPHA:1199
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Autism Spectrum Disorder Due To Auts2 Deficiency
Atrial septal defect, Umbilical hernia, Abnormal heart morphology ORPHA:352490
Larsen-Like Syndrome
Joint laxity, Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodacty... OMIM:608545
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... OMIM:306955
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Death in childhood OMIM:615597
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Focal Facial Dermal Dysplasia Type Iii
Abnormal sacroiliac joint morphology, Prematurely aged appearance, Redundant skin ORPHA:1807
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Telangiectasia of the skin, Lack of skin elasticity, Mitral valv... ORPHA:758
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Prematurely aged appearance, Lack of... ORPHA:2959
Formiminoglutamic Aciduria
Atrial septal defect ORPHA:51208
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Hydrocephalus, Dry skin, Stillbirt... OMIM:210710
Congenital Myasthenic Syndrome
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Recurrent respiratory infections, Neuropathic spinal arthropathy, Congenital hip di... ORPHA:98914
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contractu... OMIM:620369
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Respiratory distress, Recurrent respiratory infections, Sacral dimple, Postaxial po... OMIM:300968
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Prominent fingertip pads, Sandal gap, Dysplastic tricuspid valve, Small han... OMIM:612863
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... OMIM:614779
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Myofiber disarray, Hypertrophic cardiomyopathy, Inspirato... OMIM:604377
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Abnormal morphology of ulna, Redundant skin, Short neck, Genu va... ORPHA:1340
Mandibuloacral Dysplasia With Type A Lipodystrophy
Prematurely aged appearance, Progeroid facial appearance, Flexion contracture, Limitation of join... ORPHA:90153
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Martsolf Syndrome 1
Joint laxity, Recurrent respiratory infections, Short metacarpal, Thoracic scoliosis, Lumbar hype... OMIM:212720
Ablepharon-Macrostomia Syndrome
Short metacarpal, Toe syndactyly, Redundant skin, Cutaneous finger syndactyly, Talipes equinovaru... OMIM:200110
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Talipes equinovarus, Pulmonary hyp... OMIM:620306
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... ORPHA:99646
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Single transverse palmar crease, Short neck, Flexion contracture, Hemiverteb... ORPHA:96334
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Short neck, Slender fi... ORPHA:251028
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... OMIM:620278
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... ORPHA:747
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Prominent superficial veins, Prematurely aged appearance, Recurrent fractures, Ost... OMIM:601812
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc... ORPHA:508533
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... OMIM:212140
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Wrinkly Skin Syndrome
Osteopenia, Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphoscoliosis, Gener... ORPHA:2834
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Opsismodysplasia
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odo... OMIM:258480
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Atrial septal def... ORPHA:79330
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... ORPHA:1120
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly,... ORPHA:2519
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Calcaneovalgus deformity, Hyporeflexia of upper limbs, Scoliosis ORPHA:93952
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Recurrent respiratory infections, Jaundice, Early ossif... OMIM:208500
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... OMIM:608612
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prematurely aged appearance, Abnormal fingertip morphology, Progeroid facial appearance, Osteolys... ORPHA:90154
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t... OMIM:601356
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Short Syndrome
Excessive wrinkled skin, Joint hyperflexibility, Brachydactyly, Short palm ORPHA:3163
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, F... OMIM:251230
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta ORPHA:2475
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Recurrent respiratory infections, Respiratory distress, Contractures of the large joi... ORPHA:329178
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Dilated cardiomyopathy, Flexion contracture, Respiratory insufficiency, Abn... ORPHA:367
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Frank-Ter Haar Syndrome
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Secundum atrial septal... OMIM:249420
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale OMIM:617182
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele ORPHA:521308
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis OMIM:619149
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Bilateral single transverse palmar creases, Micromelia, Short neck, Adducte... ORPHA:50810
Congenital Rubella Syndrome
Atrial septal defect, Jaundice, Ventricular septal defect ORPHA:290
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Cutis marmorata... ORPHA:3260
Feingold Syndrome Type 1
Abnormal heart morphology, Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular s... ORPHA:391641
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance OMIM:227260
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia... OMIM:202650
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation ORPHA:261304
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia ORPHA:2248
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... OMIM:616914
Werner Syndrome
Low back pain, Prematurely aged appearance, Progeroid facial appearance, Osteoporosis, Reduced bo... OMIM:277700
Recon Progeroid Syndrome
Joint laxity, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Livedo re... OMIM:620370
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:274000
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... OMIM:101800
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Atrial... OMIM:157800
Wiedemann-Steiner Syndrome
Joint laxity, Sacral dimple, Tapered finger, Contracture of the distal interphalangeal joint of t... OMIM:605130
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t... OMIM:271665
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Kyphosis, Contractures of the large joints, Congenital contr... ORPHA:191
Thanatophoric Dysplasia
Atrial septal defect, Hydrocephalus, Redundant skin ORPHA:2655
Congenital Heart Block
Cyanosis, Pericardial effusion, Pallor, Endocardial fibroelastosis, Patent foramen ovale ORPHA:60041
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe... OMIM:612474
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis OMIM:619881
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart OMIM:618142
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... ORPHA:210122
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Ventricular septal defect, Mitral atresia, Muscular ventricu... OMIM:619503
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... ORPHA:33364
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Bacterial Toxic-Shock Syndrome
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Respiratory tract infection, Myocardit... ORPHA:36234
Acquired Partial Lipodystrophy
Progeroid facial appearance ORPHA:79087
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ventricular septal defect, Episodic tachypnea, Pneumonia, Pericardial effus... ORPHA:26793
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... OMIM:610536
Mgat2-Cdg
Osteopenia, Respiratory distress, Ventricular septal defect, Kyphosis, Abnormal heart morphology,... ORPHA:79329
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Megalencephaly
Atrial septal defect ORPHA:2477
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Lumbar hyperlordosis, Joint stiffness, Sh... ORPHA:505248
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Anencep... ORPHA:1335
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Short neck, Small hand, ... ORPHA:177907
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... ORPHA:308552
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Hydrocephalus, Abnormal tricuspid va... ORPHA:7
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... OMIM:618316
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bo... OMIM:618188
Down Syndrome
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Prematurely aged appearance... ORPHA:870
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Even-Plus Syndrome
Atrial septal defect, Patent foramen ovale OMIM:616854
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Gapo Syndrome
Prematurely aged appearance, Abnormal form of the vertebral bodies, Joint hyperflexibility, Abnor... ORPHA:2067
Triosephosphate Isomerase Deficiency