Not currently registered for phenotyping at IMPC

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

Gene Summary

insulin-like growth factor I receptor
CD221,  IGF-1R,  line 186,  hyft,  A330103N21Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Igf1r 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 Igf1r by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Intrauterine growth retardation, Growth delay, Short stature ORPHA:73273
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Low-set ears, Short stature OMIM:270450

The table below shows human diseases predicted to be associated to Igf1r by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Increased... ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Fai... OMIM:616081
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Severe short stature, Neonatal respiratory distress, Hearing impairment, Respirator... OMIM:619057
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Respiratory failure, Myofib... OMIM:615348
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Oligohydramnios, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Posteriorly rotated ears, Low-set ears, Respiratory failure, Intra... ORPHA:1832
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Pulmo... OMIM:253310
Dysplastic Cortical Hyperostosis
Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatomegaly ORPHA:2204
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Respiratory insufficiency, Enlarged vestibular aqueduct, Sens... ORPHA:705
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Decreased fetal movement, Edema, Ascites, Hepatic fai... OMIM:232500
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Preeclampsia, Hepatomegaly, Splenomegaly ORPHA:163596
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:605711
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hydrops fetalis, Splenomegaly OMIM:613673
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, A... ORPHA:90117
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Respi... OMIM:609524
Ceroid Lipofuscinosis, Neuronal, 10
Low-set ears, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Pelvic girdl... ORPHA:254361
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Abnormality of the pinna, Respiratory insufficiency due to muscle weakness OMIM:618291
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Premature birth, Ascites ORPHA:2123
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Abnormality of the pinna, Respiratory insufficiency OMIM:228940
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Hydrops fetalis, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Death in infancy, Congenital contracture, Respiratory failure, Hypop... OMIM:225753
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Fail... ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Indomethacin Embryofetopathy
Hydrops fetalis, Premature birth, Oligohydramnios ORPHA:1909
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hearing impairment, Severe short stature OMIM:223500
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea OMIM:263000
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Dermal translucency, Cutis laxa, Elbow flexion contracture, Excessive wrinkled skin,... OMIM:614438
3-Methylglutaconic Aciduria, Type Viii
Apnea, Growth delay, Death in infancy, Sensorineural hearing impairment, Respiratory failure OMIM:617248
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis, Diffuse palmoplantar hyperkeratosis ORPHA:86918
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Dermal translucency, Poor wound healing, Recurrent fractures, Reduced bone m... OMIM:619115
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Edema, Hepatosplenomegaly ORPHA:101028
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Splenomegaly OMIM:608540
Otosclerosis 10
Otosclerosis OMIM:615589
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint hypermobility, Dermal translucency, Poor wound healing, Recurrent fractures, Bruising susce... OMIM:619120
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Alopecia totalis, Death in childhood OMIM:302000
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Growth delay, Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonata... OMIM:245400
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Synostosis of carpal bones, White hair, Tracheomalacia, At... ORPHA:896
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Hepatomegaly, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscular dystrop... ORPHA:598
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Respiratory insufficiency OMIM:616314
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Rhinorr... OMIM:615067
Pyruvate Kinase Deficiency Of Red Cells
Abnormality of the amniotic fluid, Cholecystitis, Cholelithiasis, Jaundice, Nonimmune hydrops fet... OMIM:266200
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Edema, Breech presentation OMIM:600972
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Macdermot-Winter Syndrome
Intrauterine growth retardation, Posteriorly rotated ears, Death in infancy, Macrotia OMIM:247990
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Myelitis, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Hypopla... ORPHA:2912
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Craniosynostosis, Generalized abnormality of skin, Abnormal hair morphology, Joint... ORPHA:2314
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Joint hypermobility, Abnormal bone ossification, Hirsutism, Synophrys,... ORPHA:2463
Ring Chromosome 6 Syndrome
Respiratory insufficiency, Short stature, Macrotia ORPHA:1448
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Sensori... ORPHA:2590
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Craniosynostosis, Respiratory insufficiency, Repeated pneumothoraces, Tortic... ORPHA:536467
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Respiratory insufficiency, Macrotia ORPHA:2487
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Respiratory insufficiency OMIM:618252
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Spondylometaphyseal Dysplasia, X-Linked
Sclerosis of skull base, Respiratory insufficiency, Wide nasal bridge, Hyperextensibility of the ... OMIM:313420
Sialidosis Type 2
Hydrops fetalis, Pedal edema, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth OMIM:215045
Rowley-Rosenberg Syndrome
Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pulmonary arterial hypertension,... OMIM:268500
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Low-set ears, Neonatal respiratory distress, Respiratory failure, Apl... ORPHA:168486
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Intrinsic hand muscle atrophy, Respiratory insufficiency, Distal lower limb amyotrophy, Distal lo... ORPHA:90103
Hydrops Fetalis
Polyhydramnios, Increased placental thickness, Lymphedema, Pleural effusion, Pericardial effusion... ORPHA:1041
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Transient pulmonary... ORPHA:70588
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Short stature OMIM:166220
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Ank... ORPHA:2020
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly OMIM:224120
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Single umbilical artery, Hydrops fetalis ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Respiratory insufficiency, Type 1 muscle fiber predominance, Distal a... OMIM:619042
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Hearing impairment, Abnormality of the antihelix, Hypoplasia of ... ORPHA:2489
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Apert Syndrome
Conductive hearing impairment, Respiratory insufficiency, Sensorineural hearing impairment, Optic... ORPHA:87
Fontaine Progeroid Syndrome
Prematurely aged appearance, Craniosynostosis, Death in infancy, Coarse hair, Respiratory insuffi... OMIM:612289
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Premature birth, Ascites, Splenomegaly OMIM:269920
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress, Maternal diabetes ORPHA:45452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Overfolded helix, Low-set ears, Posteriorly rotated ears, Respirat... ORPHA:2759
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Dominant Beta-Thalassemia
Osteoporosis, Dyspnea, Jaundice, Hypoplasia of the musculature, Pallor, Skin ulcer, Depressed nas... ORPHA:231226
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure, Short stature ORPHA:1861
De Barsy Syndrome
Decreased muscle mass, Prominent veins on trunk, Dermal translucency, Sparse hair, Generalized jo... ORPHA:2962
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Optic atrophy, Death in infancy, Respiratory insufficiency OMIM:614299
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Sensorineural hearing impairment, Respiratory failure, Short stature... OMIM:606071
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Thick eyebrow, Dermal translucency ORPHA:529965
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal distress, Fetal as... ORPHA:292
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Leigh Syndrome
Respiratory insufficiency, Sensorineural hearing impairment, Respiratory failure, Abnormal patter... OMIM:256000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the larynx, Abnormal brainstem morph... ORPHA:99852
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis OMIM:276822
Beta-Thalassemia Major
Osteoporosis, Dyspnea, Jaundice, Hypoplasia of the musculature, Pallor, Skin ulcer, Depressed nas... ORPHA:231214
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Neu-Laxova Syndrome
Osteoporosis, Spina bifida, Arthrogryposis multiplex congenita, Abnormal hair morphology, Rickets... ORPHA:2671
Sprengel Deformity
Shoulder muscle hypoplasia, Spina bifida occulta, Neck muscle hypoplasia OMIM:184400
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Growth delay, Death in infancy, Low-set ears, Respiratory failure, Intrauterine growth retardation ORPHA:1194
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... OMIM:612954
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Fetal Gaucher Disease
Hydrops fetalis, Fetal akinesia sequence, Decreased fetal movement, Hepatomegaly, Splenomegaly, A... ORPHA:85212
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly ORPHA:766
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Joint hypermobility, Hypermobility of interphalangeal joints, Fragile skin, ... OMIM:130050
Wolfram-Like Syndrome
Abnormality of the pinna, Respiratory insufficiency, Delayed puberty, Optic atrophy, Severe postn... ORPHA:411590
3Mc Syndrome 2
Highly arched eyebrow, Diastasis recti, Joint hypermobility, Craniosynostosis, Radioulnar synosto... OMIM:265050
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Gómez-López-Hernández Syndrome
Alopecia of scalp, Abnormal brainstem morphology, Hydrocephalus, Anteverted nares ORPHA:1532
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Respiratory insufficiency, Proximal amyotrophy OMIM:612999
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites ORPHA:69735
Frontometaphyseal Dysplasia
Camptodactyly of finger, Limited wrist movement, Craniosynostosis, Shoulder muscle hypoplasia, Li... ORPHA:1826
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Respiratory fa... ORPHA:352447
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, ... ORPHA:231144
Chiari Malformation Type Ii
Spina bifida, Inspiratory stridor, Cervical myelopathy, Syringomyelia, Cyanosis, Myelomeningocele... OMIM:207950
Sandestig-Stefanova Syndrome
Underdeveloped tragus, Angulated antihelix, Low-set ears, Respiratory failure, Intrauterine growt... OMIM:618804
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Macroglossia, Hypoventilation, Congenital muscular dystr... ORPHA:258
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress ORPHA:91130
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Cirrhosis, Elevated hepatic transaminase, Fetal akinesia sequence, Hepatomegaly, ... ORPHA:367
Neuraminidase Deficiency
Hydrops fetalis, Facial edema, Hepatomegaly, Ascites, Splenomegaly OMIM:256550
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Joint hypermobility, Craniosynostosis, Dermal translucency, Underdeveloped... OMIM:617506
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure... OMIM:276950
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema OMIM:153100
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Limited elbow extension, Limited hip extension, Brain stem compression, Generalized joint laxity,... OMIM:100800
Restrictive Dermopathy
Camptodactyly of finger, Generalized hyperkeratosis, Sparse eyebrow, Dermal translucency, Sparse ... ORPHA:1662
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment, Respiratory failure, Respiratory... OMIM:135100
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Weight loss, Asthma, Pulmonary arter... ORPHA:1164
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Torticollis ORPHA:3181
Klippel-Trénaunay Syndrome
Hepatomegaly, Hydrops fetalis, Edema, Ascites ORPHA:90308
Campomelia, Cumming Type
Hydrops fetalis, Oligohydramnios, Lymphedema, Pancreatic cysts, Hepatomegaly, Abnormality of the ... ORPHA:1318
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Myelitis, Pleural effusion, Cough, Non... ORPHA:454836
Arnold-Chiari Malformation Type Ii
Apnea, Brain stem compression, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Meningocele, ... ORPHA:1136
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale, Acantholysis, Fragile skin, Sparse and thin eyebr... OMIM:607655
Mulibrey Nanism
Hepatomegaly, Hydrops fetalis, Ascites OMIM:253250
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, As... ORPHA:52368
Pleuritis, Arthralgia/arthritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchi... ORPHA:449280
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Underdeveloped nasal alae, Long eyelashes, Wide nasal bridge, Abnormal bra... ORPHA:411493
Warsaw Breakage Syndrome
Intrauterine growth retardation, Cupped ear, Hearing impairment, Hypoplasia of the cochlea OMIM:613398
Free Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Ascites, Splenomegaly ORPHA:834
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Decreased fetal movement, Hydrops fetalis OMIM:255320
Crouzon Disease
Narrow internal auditory canal, Conductive hearing impairment, Respiratory insufficiency, Hearing... ORPHA:207
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Respiratory distress, Narrow internal auditory canal, Low-set,... ORPHA:990
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Splenomegaly, Edema, Ascites, Nonimmu... OMIM:616843
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Marinesco-Sjögren Syndrome
Myopathy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal mus... ORPHA:559
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Facial diplegia, Hypoventilation, Flexion contracture, Quadriceps... ORPHA:70
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Congenital Lethal Erythroderma
Death in infancy, Failure to thrive, Respiratory insufficiency ORPHA:1954
Keratoderma Hereditarium Mutilans
Osteolysis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Alopecia, Abnormality of the s... ORPHA:494
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Optic atrophy, Respiratory failure, Central hypoventilation OMIM:618233
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation OMIM:615925
Mitochondrial Trifunctional Protein Deficiency
Prenatal maternal abnormality, Hydrops fetalis, Elevated hepatic transaminase, Abnormality of the... OMIM:609015
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Right ventricul... ORPHA:444013
Farber Disease
Osteoporosis, Respiratory distress, Recurrent upper respiratory tract infections, Flexion contrac... ORPHA:333
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Pleural effusion, Rhinorrhea ORPHA:73
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Postnatal growth retardation, Morphological ... ORPHA:96148
Immunodeficiency 54
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:609981
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Dermal translucency ORPHA:541423
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Abnormal enchondral ossification, Flexion contracture, Respir... OMIM:156530
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis OMIM:619003
Lethal Acantholytic Erosive Disorder
Absent eyelashes, Acantholysis, Camptodactyly of toe, Absent eyebrow, Fragile skin, Respiratory f... ORPHA:158687
Noonan Syndrome
Thickened helices, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears ORPHA:1506
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Type 2 muscle fiber atrophy, Respiratory failure, Failure to thrive, P... OMIM:613845
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Respiratory failure, Abnormal brainstem morphology, Skeletal m... ORPHA:98755
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Growth delay, Respiratory failure, Absent brainstem auditory responses ORPHA:3240
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Mucopolysaccharidosis Type 2
Otosclerosis, Sleep apnea, Conductive hearing impairment, Growth delay, Abnormal nasal mucus secr... ORPHA:580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Respiratory failure, Respiratory distress OMIM:617895
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Sensorineural hearing impairment, Respiratory failure, Chronic otitis media ORPHA:3226
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Dyspnea, Decreased pulmonary function, Cough, Reduced ... ORPHA:133
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Progressive conductive hearing impairment, Microtia ORPHA:529962
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure ORPHA:363400
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Laryngospasm, Amyotrophic lateral sclerosis, Res... ORPHA:803
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Respiratory insufficiency, Proximal muscle weakness in lower limbs, Skeletal... OMIM:310440
Choanal Atresia
Craniosynostosis, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngoma... ORPHA:137914
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Hepatitis, Ascites, Splenomegaly ORPHA:584
Carey-Fineman-Ziter Syndrome
Hypoplasia of the brainstem, Flexion contracture, Respiratory insufficiency, Pectoralis hypoplasi... OMIM:254940
Loeys-Dietz Syndrome 2
Spontaneous pneumothorax, Osteoporosis, Craniosynostosis, Dermal translucency, Joint laxity, Camp... OMIM:610168
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Respiratory arrest, EMG: myopathic abnormalities, Episodic respirato... ORPHA:98914
Wrinkly Skin Syndrome
Joint hypermobility, Scapular winging, Sparse hair, Neonatal wrinkled skin of hands and feet, Pal... OMIM:278250
Snakebite Envenomation
Rhabdomyolysis, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure, Muscle fiber nec... ORPHA:449285
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Death in infancy, Congenital con... OMIM:615368
Charge Syndrome
Abnormal cranial nerve morphology, Hypoplasia of the semicircular canal, Overfolded helix, Low-se... ORPHA:138
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Gms Syndrome
Low-set ears, Short stature, Respiratory insufficiency ORPHA:2090
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Restrictive ventilatory defect, Sleep apnea, Conductive hearing impairment, Growth ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Restrictive ventilatory defect, Sleep apnea, Conductive hearing impairment, Growth ... ORPHA:217093
Hartsfield Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Respiratory insufficiency ORPHA:2117
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Single umbilical artery, Ascites OMIM:616897
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Abnormality of the pinna, Low-set ears, Neonatal death, Respiratory failure... OMIM:266910
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absen... OMIM:614874
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia of the skin, Generalized amyotrophy, Abnormal brainstem morphology... ORPHA:79279
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Hereditary Elliptocytosis
Hydrops fetalis, Cholelithiasis, Prolonged neonatal jaundice, Jaundice, Splenomegaly ORPHA:288
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Resp... OMIM:616037
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Optic disc pallor OMIM:615838
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Hydrocephalus, Skeleta... ORPHA:899
Glycogen Storage Disease Due To Acid Maltase Deficiency
Osteoporosis, Respiratory tract infection, EMG: myopathic abnormalities, Sleep apnea, Facial hypo... ORPHA:365
Familial Benign Chronic Pemphigus
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema ORPHA:2841
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Joint hypermobility, Dermal translucency, Sparse hair, Premature skin wr... ORPHA:3455
Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Wide anterior fontanel, Abnorm... ORPHA:26791
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Distal amyotrophy, Acral ulceration, Skin ulcer, Abnormality of the spinal cord ORPHA:139578
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Growth delay, Respiratory failure, Short stature, Optic atrophy, Optic disc pallor OMIM:259720
Wheezing, Respiratory distress, Cough, Weight loss, Respiratory failure, Failure to thrive, Hypox... ORPHA:1549
Bresek Syndrome
Growth delay, Aganglionic megacolon, Low-set ears, Hearing impairment, Neonatal death, Optic nerv... ORPHA:85284
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness, Skeletal muscle atrophy ORPHA:2400
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates, Arthritis ORPHA:375
Loeys-Dietz Syndrome 1
Craniosynostosis, Dermal translucency, Joint laxity, Camptodactyly, Pulmonary artery aneurysm, Hy... OMIM:609192
Vascular Ehlers-Danlos Syndrome
Prematurely aged appearance, Sleep apnea, Abnormality of hair texture, Dermal translucency, Aplas... ORPHA:286
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Apnea, Optic atrophy, Respiratory failure OMIM:617301
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Respiratory insufficie... ORPHA:183
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Overfolded helix, Respiratory insufficiency, Low-set ears, Posterior... OMIM:608836
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Hydrocephalus, Flexion contracture, Quadriceps muscle weakness, Triceps wea... ORPHA:99947
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Hepatocellular carcinoma, Hydrops fetalis, Elevated hepatic transaminase ORPHA:88618
Fibromuscular Dysplasia, Multifocal
Joint hypermobility, Dermal translucency, Pulmonary artery aneurysm, Striae distensae, Narrow nose OMIM:619329
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Restrictive ventilatory defect, Dyspnea, Hydrocephalus, Emphysema, Cough, Atelectasis, Chylothora... ORPHA:538
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Hydrops fetalis, Ascites OMIM:614091
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Stenosis of the external au... OMIM:113650
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Failure to thrive in infancy, Respiratory insufficien... ORPHA:746
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Growth delay, Postnatal growth retardation, Sens... ORPHA:1435
Distal Renal Tubular Acidosis
Growth delay, Respiratory insufficiency due to muscle weakness, Enlarged vestibular aqueduct, Sen... ORPHA:18
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Neonatal death, Alopecia universalis, Acantholysis OMIM:609638
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptysis, Pulmonary infiltrates ORPHA:340
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Growth delay, Respiratory failure, Optic atrophy ORPHA:2707
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Lymphedema, Oligohydramnios, Severe hydrops fetalis OMIM:601927
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology, Hydroc... ORPHA:163961
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Postnatal gr... ORPHA:2306
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Failur... ORPHA:280210
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Relapsing Polychondritis
Dyspnea, Purpura, Cough, Erythema, Laryngomalacia, Atelectasis, Alopecia, Abnormal pattern of res... ORPHA:728
Otopalatodigital Syndrome, Type Ii
Wide anterior fontanel, Stillbirth, Conductive hearing impairment, Postnatal growth retardation, ... OMIM:304120
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Fetal akinesia sequence OMIM:617022
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Vertebral fusion, Pulmonary hypoplasia, Increased susceptibility to fracture... OMIM:312150
Trisomy 1Q
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis ORPHA:261344
Short-Rib Thoracic Dysplasia 12
Holoprosencephaly, Respiratory insufficiency, Atelectasis, Hypoplastic nipples, Anencephaly, Neon... OMIM:269860
Trisomy 13
Hydrops fetalis ORPHA:3378
Pemphigus Foliaceus
Skin vesicle, Acantholysis, Erythema ORPHA:79481
Ear-Patella-Short Stature Syndrome
Anotia, Dyspnea, Respiratory distress, Growth delay, Atresia of the external auditory canal, Seve... ORPHA:2554
Tetrasomy 5P
Respiratory distress, Short nose, Hydrocephalus, Wide nasal bridge, Redundant neck skin, Pulmonar... ORPHA:3309
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Left ventricular hypertrop... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature ORPHA:1101
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, ... ORPHA:496641
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Respiratory failure, Optic neuropathy, Intrauterin... OMIM:610505
20Q11.2 Microdeletion Syndrome
Camptodactyly, Brainstem dysplasia ORPHA:444051
Gm1-Gangliosidosis, Type I
Hepatomegaly, Hydrops fetalis, Splenomegaly OMIM:230500
Superficial Epidermolytic Ichthyosis
Acantholysis, Palmoplantar keratoderma, Erythema ORPHA:455
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Vertebral fusion, Pulmonary hypoplasia, Increased susceptibility to fracture... OMIM:253290
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Decreased fetal movement, Hepatomegaly, Splenomegaly, Premature birth, Nonimmune ... OMIM:608013
Cardiac Valvular Defect, Developmental
Hydrops fetalis, Edema OMIM:212093
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Tachypnea, M... OMIM:611560
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Flexion contracture, Distal amyotrophy, Respiratory failure, Anteverted nares OMIM:616505
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Right ventricular hypertrophy, Small for gest... ORPHA:555874
Loeys-Dietz Syndrome 3
Craniosynostosis, Dermal translucency, Joint laxity, Hip osteoarthritis, Camptodactyly, Dural ect... OMIM:613795
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Hearing impairment, Respiratory failure, Op... ORPHA:70474
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Respiratory failure, Death in infancy OMIM:617186
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertr... ORPHA:370959
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Sleep apnea, Narrow internal auditory canal, Conductive hearing imp... ORPHA:794
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Mosaic Trisomy 9
Polyhydramnios, Hydrops fetalis, Oligohydramnios, Abnormal liver lobulation, Single umbilical art... ORPHA:99776
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Abnormal brainstem MRI signal intensity ORPHA:51188
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Postnatal growth retardation OMIM:609054
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Congenital abnormal hair pattern, Atrichia, Pneumonia, Alopecia, Nail dystrophy ORPHA:1867
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Cyanotic episode, Depressed nasal bridge, Knee flexion contracture, Ankle flexi... ORPHA:284417
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Acantholysis, Palmoplantar keratoderma, Orthokeratosis, Recurrent respiratory infect... OMIM:615508
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Respiratory distress, Hearing impairment, Respira... ORPHA:206436
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis OMIM:200600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Premature birth, Edema OMIM:602522
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Naxos Disease
Palmoplantar keratoderma, Acantholysis, Curly hair, Fragile skin, Abnormal morphology of right ve... OMIM:601214
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Joint laxity, Camptodactyly, Flexio... ORPHA:254528
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Ground-glass opacification, Pulmonary hem... OMIM:233450
Brain-Lung-Thyroid Syndrome
Respiratory distress, Growth delay, Neonatal respiratory distress, Sensorineural hearing impairme... ORPHA:209905
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Hydrops fetalis, Splenomegaly OMIM:253220
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibro... ORPHA:420741
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Radioulnar synostosis, Muscular dyst... ORPHA:2461
Acrocyanosis, Abnormal hair quantity, Pulmonary fibrosis, Respiratory insufficiency, Telangiectas... ORPHA:221
Gm1 Gangliosidosis
Hydrops fetalis, Premature birth, Hepatosplenomegaly, Splenomegaly ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Respiratory insufficiency, Sensorineural hearing impairment, Respiratory failure, O... OMIM:252010
Rare Circulatory System Disease
Limited wrist movement, Limited hip movement, Cyanosis, Elbow flexion contracture, Pallor, Limita... ORPHA:98028
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long eyebrows, Joint contracture of the 5th finger, Prominent nose OMIM:614407
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Sclerosis of hand bone, Pleural effusion, Leukonych... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Abnormality of the amniotic fluid, Hepatic steatosis, Pericardial ... OMIM:212065
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Dyssegmental Dysplasia, Silverman-Handmaker Type
Spontaneous abortion, Hydrops fetalis, Single umbilical artery, Increased placental thickness ORPHA:1865
Beckwith-Wiedemann Syndrome
Otosclerosis, Posterior helix pit, Sleep apnea, Wide anterior fontanel, Anterior creases of earlo... ORPHA:116
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
22Q11.2 Deletion Syndrome
Occipital myelomeningocele, Spina bifida, Chronic pulmonary obstruction, Bulbous nose, Purpura, A... ORPHA:567
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Skeletal muscle atrophy OMIM:252320
Pemphigus Erythematosus
Skin vesicle, Acantholysis ORPHA:79480
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Leigh Syndrome
Macrotia, Growth delay, Sensorineural hearing impairment, Respiratory failure, Abnormal pattern o... ORPHA:506
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema, Arthritis ORPHA:3165
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, C... OMIM:613610
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Hypoplastic spleen, Nonimmune hydrops fetalis OMIM:619313
Pearson Syndrome
Hydrops fetalis, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hepatic steato... ORPHA:699
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Acantholysis, Abnormal pleura morphology, C... ORPHA:537
Pemphigus Vulgaris
Urticaria, Acantholysis ORPHA:704
Chand Syndrome
Curly hair, Atelectasis, Depressed nasal bridge, Dry skin ORPHA:1401
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Air crescent sign, Osteolysis, Parenchymal consolidation, Pleural effusion, Cough, Acute infectio... ORPHA:73263
Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bronchiectasis, P... ORPHA:228119
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Oculocerebrorenal Syndrome Of Lowe
Joint hyperflexibility, Death in infancy, Recurrent fractures, Respiratory insufficiency, Atelect... ORPHA:534
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Bloom Syndrome
Azoospermia, Chronic pulmonary obstruction, Oligospermia, Growth delay, Pneumonia, Otitis media, ... ORPHA:125
Iga Pemphigus
Skin vesicle, Generalized abnormality of skin, Acantholysis ORPHA:555905
Nijmegen Breakage Syndrome
Low anterior hairline, Abnormal hair morphology, Abnormal hair quantity, Recurrent sinopulmonary ... ORPHA:647
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Dyspnea, Pulmonary fibrosis, Flexion contracture, Telangiectasia of the skin, Pulmona... ORPHA:220393
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Urticaria, Limitation of joint mobility, Arthritis ORPHA:343
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Joubert Syndrome 1
Hypoplasia of the brainstem, Highly arched eyebrow, Macroglossia, Brainstem dysplasia, Episodic t... OMIM:213300
Fibrochondrogenesis 1
Hydrops fetalis OMIM:228520
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Brainstem dys... OMIM:608091
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Hepatosplenomegaly ORPHA:79255
Arterial Tortuosity Syndrome
Dyspnea, Cardiorespiratory arrest, Respiratory distress, Macrotia, Respiratory failure ORPHA:3342
Malignant Atrophic Papulosis
Pleural effusion, Vertigo, Respiratory failure ORPHA:679
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Cirrhosis, Hydrops fetalis, Hepatomegaly, Elevated hepatic iron concentration OMIM:300868
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:542323
Dravet Syndrome
Limited knee extension, Cyanotic episode, Pallor ORPHA:33069
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Hydrops fetalis, Splenomegaly ORPHA:77261
Charcot-Marie-Tooth Disease Type 1E
Hand muscle weakness, Peroneal muscle atrophy, Cough, Peroneal muscle weakness, Hand muscle atrop... ORPHA:90658
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Dyspnea, Acantholysis, Abnormal pleura morphology, Cough, Erythem... ORPHA:36426
Contractural Arachnodactyly, Congenital
Limited elbow extension, Congenital finger flexion contractures, Limited knee extension, Camptoda... OMIM:121050
Cystic Echinococcosis
Bone cyst, Pulmonary cyst, Jaundice, Multiple pulmonary cysts, Asthma, Abnormal subpleural morpho... ORPHA:400
Griscelli Syndrome Type 2
Hypopigmentation of hair, Premature graying of hair, Jaundice, Petechiae, Pulmonary infiltrates ORPHA:79477
Costello Syndrome
Wide anterior fontanel, Respiratory insufficiency, Tracheomalacia, Low-set ears, Posteriorly rota... OMIM:218040
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis, Decreased muscle mass ORPHA:349
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure, Hydrocephalus OMIM:616538
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Myhre Syndrome
Respiratory insufficiency, Low-set ears, Hearing impairment, Birth length less than 3rd percentil... OMIM:139210
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, White hair, Abnormal brainstem morphology, Hydrocephalus ORPHA:2720
Greenberg Dysplasia
Polyhydramnios, Pleural effusion, Pancreatic islet-cell hyperplasia, Hepatomegaly, Hepatic calcif... OMIM:215140
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Anomal... ORPHA:141127
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Frontal hirsutism, Wide nasal bridge ORPHA:3304
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... ORPHA:1329
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Pericardial effusion, Splenomegaly, Ascites, Chylothorax ORPHA:2136
Short Rib-Polydactyly Syndr