Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... OMIM:617232
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... OMIM:614915
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Optic atrophy, Growth delay, Respiratory fai... OMIM:619057
Fetal Parvovirus Syndrome
Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites OMIM:619433
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... OMIM:231100
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P... OMIM:253310
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears, Intra... ORPHA:1832
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Glycogen Storage Disease Iv
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... OMIM:232500
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios ORPHA:163596
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cryptorchidism, R... OMIM:611890
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites ORPHA:2123
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Alpha-Thalassemia
Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis ORPHA:846
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Indomethacin Embryofetopathy
Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... OMIM:620265
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Hypoplasia of the cochlea, Asthma, Hypoplasia of the semicircular c... ORPHA:251061
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Low-set ears, Neonatal death OMIM:610127
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hearing impairment OMIM:223500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... ORPHA:254875
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Redundant skin, Spontaneous neonatal pneumothorax, Gingival hyperkerato... OMIM:225410
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Diffuse palmoplantar hyperkeratosis, Acrocyanosis ORPHA:86918
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Poor wound healing, Reduced bone mineral density, Bruising susceptibility, J... OMIM:619115
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Otosclerosis 10
Otosclerosis OMIM:615589
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Recurrent fractures, Poor wound healing, Bruising susceptibility, Joint hypermobility, Dermal tra... OMIM:619120
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Prominent superficial veins, Flexion contracture, Osteoporosis, Elbow flexion contrac... OMIM:614438
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Hearing impairment OMIM:616277
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Advanced ossification of carpal bones, Respiratory insufficiency, Incre... OMIM:615349
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Alopecia totalis, Death in childhood OMIM:302000
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... ORPHA:2902
Transaldolase Deficiency
Edema, Hydrops fetalis, Cirrhosis, Hepatosplenomegaly ORPHA:101028
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Hypoplasia of the pons, Congenital contracture, Respiratory failure, Hypoplasia... OMIM:225753
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... OMIM:245400
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis OMIM:608540
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Joint... OMIM:225790
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Atelectasis, White hair, Tracheomalacia, Acrocyanosis, ... ORPHA:896
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Limited e... OMIM:305620
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Abnormal lower motor neuron morphology, Respirat... ORPHA:2590
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic... OMIM:617049
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... ORPHA:2314
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios ORPHA:3405
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites, Increased p... ORPHA:1041
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Short stature, Hearing impairment OMIM:166220
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171433
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Achondrogenesis, Type Ib
Breech presentation, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Syno... ORPHA:2463
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Ankle flexion contracture, Hypoplasia of the m... ORPHA:2020
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ... OMIM:620321
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Torticollis, Multiple joint contractures, Recurrent fractures, ... ORPHA:536467
De Barsy Syndrome
Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Progeroid facial appearanc... ORPHA:2962
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Stiff neck, Hypoplas... ORPHA:2912
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Nemaline Myopathy 10
Death in infancy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle ... OMIM:616165
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Aplasia/Hypoplasia of the external ear, Respiratory failure... ORPHA:168486
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Retinal telangiectasia, Osteoporosis, Increased susceptibility to fractures, Prematur... OMIM:612199
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Chondrodysplasia, Blomstrand Type
Fetal ascites, Premature birth, Hydrops fetalis, Polyhydramnios OMIM:215045
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... OMIM:620369
Apert Syndrome
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Respirat... ORPHA:87
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Splenomegaly, Hydrops fetalis, Ascites OMIM:269920
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Hyperekplexia 4
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly OMIM:618011
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Respir... OMIM:254940
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... OMIM:616867
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Cutis laxa, Premature skin wrinkling, Dermal translucency OMIM:616603
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Cryptorchidism, Growth delay, Respiratory failure, Low-set ears, Intrauterine g... ORPHA:1194
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Wide anterior fontanel, Death in infancy OMIM:618240
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Dyspnea, Abnormal antitragus morphology, Respirat... ORPHA:2759
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure, Short stature ORPHA:1861
Pilarowski-Bjornsson Syndrome
Long eyelashes, Broad eyebrow, Dermal translucency OMIM:617682
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Thick eyebrow, Dermal translucency ORPHA:529965
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, ... OMIM:605676
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Skin ulcer, Pallor ORPHA:231226
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, ... OMIM:300219
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Fetal akinesia sequence, Splenomegaly, Abnormality of the... ORPHA:85212
Fontaine Progeroid Syndrome
Redundant skin, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, C... OMIM:612289
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Spina bifida, Abnormal eyelash morphology, Abn... ORPHA:2671
Silver-Russell Syndrome Due To 11P15 Microduplication
Small for gestational age, Short stature, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Poly... ORPHA:367
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Respirator... OMIM:618186
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, H... ORPHA:292
Leigh Syndrome
Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Respiratory failure, ... OMIM:256000
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Hydrops fetalis ORPHA:834
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Hypoplasia of the pons, Congenital laryngeal stridor, Degeneration of an... ORPHA:2254
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid... OMIM:606071
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI sign... ORPHA:258
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis OMIM:276822
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice ORPHA:766
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Hypoplasia of the brainstem, Camptodactyly, Bruising susceptibility, Joint hypermobility, Dermal ... OMIM:618343
Sandestig-Stefanova Syndrome
Respiratory failure, Low-set ears, Angulated antihelix, Intrauterine growth retardation, Underdev... OMIM:618804
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Beta-Thalassemia Major
Hypoplasia of the musculature, Dyspnea, Jaundice, Osteoporosis, Skin ulcer, Pallor ORPHA:231214
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... ORPHA:50815
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Respiratory i... ORPHA:90103
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h... OMIM:130050
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Respiratory fail... OMIM:276950
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Limb... OMIM:207950
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Peripheral pulmonary artery stenosis, Slow-growing hair, Craniosynostosis, Highly arc... OMIM:617506
3Mc Syndrome 2
Torticollis, Diastasis recti, Craniosynostosis, Limited elbow movement, Partial abdominal muscle ... OMIM:265050
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Facial paralysis, Neonatal deat... OMIM:605711
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature ORPHA:3181
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Abnormal brainstem morphology ORPHA:1532
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidi... ORPHA:2257
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f... OMIM:620278
Sprengel Deformity
Spina bifida occulta, Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Scaling skin, Fo... OMIM:616295
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mulibrey Nanism
Hepatomegaly, Ascites, Hydrops fetalis OMIM:253250
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Asthma, Abnormal lung lobation, Low posterior hairlin... ORPHA:79328
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... ORPHA:559
Crouzon Syndrome
Optic atrophy, Respiratory insufficiency, Conductive hearing impairment, Narrow internal auditory... ORPHA:207
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... ORPHA:1318
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hydrops fetalis, Edema ORPHA:90308
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment, Respiratory failure, Respiratory... OMIM:135100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmonary ... OMIM:619751
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... OMIM:616843
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Camptodactyly of finger, Short nail, Epidermal hyperkera... ORPHA:1662
Keratoderma Hereditarium Mutilans
Alopecia, Abnormal spinal cord morphology, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Hyp... ORPHA:494
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Hearing im... OMIM:614922
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal pi... OMIM:618291
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Ab... ORPHA:449280
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Redundant neck skin, Prematurely aged appearance, Redundant skin, Emphy... ORPHA:90348
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Synotia, Narrow internal auditory canal,... ORPHA:990
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis OMIM:619003
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterior hairline, Hypertric... OMIM:209885
Gorham-Stout Disease
Pleural effusion, Rhinorrhea, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Wide anterior fontanel, Di... OMIM:616482
Immunodeficiency 54
Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:609981
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Posterolateral diaphragmatic hernia, Joint laxity, Death in infancy, Redundant skin, ... OMIM:613177
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Distal Deletion 10Q
Short stature, Postnatal growth retardation, Congenital sensorineural hearing impairment, Cochlea... ORPHA:96148
Alg8-Cdg
Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Failure to thrive... ORPHA:444013
Warsaw Breakage Syndrome
Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Intraut... OMIM:613398
Noonan Syndrome
Low-set, posteriorly rotated ears, Short stature, Aplasia of the semicircular canal, Cryptorchidi... ORPHA:648
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... ORPHA:199241
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Respiratory insufficiency ORPHA:263410
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Rhabdomyolysis, Respiratory insufficiency, Myopathy, Respiratory failu... OMIM:609015
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Atelectasis, Fl... ORPHA:333
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Low-set ears OMIM:617895
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Small for gestational age, Respiratory failure, Death in childhood, Fail... OMIM:618252
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin... OMIM:244400
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Respiratory failure, Abnormal pinna morphology, Abnormal helix m... ORPHA:158687
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
17Q24.2 Microdeletion Syndrome
Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media ORPHA:529962
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Dermal translucency ORPHA:541423
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis OMIM:618838
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Vertigo, Respiratory failure, Sensorineural hearing impairment ORPHA:3226
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Intrauterine growth retardation, Respiratory failure, Hearing impairment OMIM:620327
Charge Syndrome
Low-set, posteriorly rotated ears, Short stature, Facial palsy, External ear malformation, Postna... ORPHA:138
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Congenital diaphragmatic hernia, Cutis laxa, Pulmonary artery aneury... OMIM:614437
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Fetal pericardial effusion, Decreased liver function, Ascites, Oligohy... OMIM:617021
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Cryptorchidism, Sensorineural hearing impairment, Respiratory failure, Death in ch... OMIM:619847
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Pleural effusion, Ascites OMIM:616897
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Abnormal brainstem morphology, Abnormality of masticatory muscle, Respir... ORPHA:98755
Ravine Syndrome
Apnea, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Short stature, Decreased nerve conduction velocity, Sensorineural hear... ORPHA:580
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Long eyelashes, Highly arched eyebrow ORPHA:411493
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Hydrocephalus, Mu... ORPHA:899
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Respiratory insufficiency due to... OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Snakebite Envenomation
Epistaxis, Angioedema, Rhabdomyolysis, Erythema, Respiratory failure, Muscle fiber necrosis, Resp... ORPHA:449285
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure, Generalized hirsutism ORPHA:363400
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Short stature, Sensorineural hearing impairment, Optic atrophy, Upper ... ORPHA:217085
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Abnormal spinal c... ORPHA:99947
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Redundant skin, Hypoplasia of the musculature, Progeroid facial app... OMIM:278250
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Short stature, Sensorineural hearing impairment, Optic atrophy, Upper ... ORPHA:217093
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fi... OMIM:613845
Galactosialidosis
Nonimmune hydrops fetalis, Hepatosplenomegaly OMIM:256540
Loeys-Dietz Syndrome 2
Joint laxity, Spontaneous pneumothorax, Craniosynostosis, Hydrocephalus, Osteoporosis, Dural ecta... OMIM:610168
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia ORPHA:3240
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Failure to thrive ORPHA:70472
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Abnormal spinal cord morphology, Skin ulcer, Distal amyotrophy, Acral ulceration ORPHA:139578
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Premature birth, Decreased liver function OMIM:618835
Congenital Myasthenic Syndrome
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... ORPHA:98914
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Premature birth, Decreased liver function OMIM:618839
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Optic atrophy, Apnea, Low-set ears OMIM:617301
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... ORPHA:79151
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Abnormality of the liver, Hydrops fetalis, Hepatocellular carcinoma ORPHA:88618
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Growth delay, Low-... ORPHA:85284
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Hyperkeratosis, Genera... ORPHA:79279
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive... ORPHA:26791
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Hereditary Elliptocytosis
Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis ORPHA:288
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Curly hair, Acanth... OMIM:601214
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... ORPHA:137914
Short-Rib Thoracic Dysplasia 12
Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Hypoplastic nipples, Holopros... OMIM:269860
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis OMIM:609638
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis, Joint stiffness ORPHA:2400
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice OMIM:224120
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... ORPHA:803
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Failure to thrive, Lower limb amyotrophy, Abnormal morphology of musculature... ORPHA:280210
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Reduced subcutaneous adipose tissue, Prominent scalp veins, Dermal translucency, Spar... ORPHA:3455
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Pulmona... OMIM:312150
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Left vent... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Respiratory ins... OMIM:608836
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Loeys-Dietz Syndrome 1
Joint laxity, Craniosynostosis, Hydrocephalus, Camptodactyly, Pulmonary artery aneurysm, Dermal t... OMIM:609192
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Growth de... ORPHA:496641
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... ORPHA:370959
Distal Renal Tubular Acidosis
Short stature, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment... ORPHA:18
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Cyanosis, Hydrocepha... ORPHA:3309
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Optic atrophy OMIM:616505
Lymphangioleiomyomatosis
Recurrent respiratory infections, Dyspnea, Hydrocephalus, Pneumothorax, Atelectasis, Pulmonary in... ORPHA:538
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respi... ORPHA:746
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Ecchymosi... ORPHA:319213
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:608013
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Camptodactyly ORPHA:444051
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Optic atrophy, Growth delay, Respiratory failure ORPHA:2707
Ear-Patella-Short Stature Syndrome
Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Severe short stature, Cry... ORPHA:2554
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature ORPHA:1101
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Pulmona... OMIM:253290
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Metatropic Dysplasia
Abnormal enchondral ossification, Flexion contracture, Respiratory insufficiency, Respiratory fai... OMIM:156530
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Trisomy 13
Hydrops fetalis ORPHA:3378
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... ORPHA:1435
Fibromuscular Dysplasia, Multifocal
Pulmonary artery aneurysm, Striae distensae, Joint hypermobility, Dermal translucency OMIM:619329
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Cy... ORPHA:284417
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Sensorineural hearing impairment, Growth delay, Hypopnea, Respiratory fa... OMIM:617248
Isotretinoin-Like Syndrome
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... ORPHA:2306
Relapsing Polychondritis
Alopecia, Dyspnea, Atelectasis, Erythema, Limitation of joint mobility, Arthritis, Cough, Abnorma... ORPHA:728
Liver Disease, Severe Congenital
Joint laxity, Dry hair, Pulmonary edema, Pneumonia, Jaundice, Nail dystrophy, Cough, Status asthm... OMIM:619991
Joubert Syndrome 7
Central apnea, Encephalocele, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Hypoplasia of t... OMIM:611560
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... ORPHA:555874
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Hypoplastic spleen, Nonimmune hydrops fetalis OMIM:619313
Gm1-Gangliosidosis, Type I
Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:230500
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... ORPHA:420741
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Vascular Ehlers-Danlos Syndrome
Alopecia, Prematurely aged appearance, Telangiectasia of the skin, Redundant skin, Abnormality of... ORPHA:286
Loeys-Dietz Syndrome 3
Joint laxity, Striae distensae, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Pneumothor... OMIM:613795
Mosaic Trisomy 9
Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Abnormal liver lobulation, Ol... ORPHA:99776
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood OMIM:617186
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Atrichia, Nail dystrophy, Acrocyanosis ORPHA:1867
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Joint stiffness, Hydrocephalus, Radioulnar syno... ORPHA:2461
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... OMIM:610505
Gm1 Gangliosidosis
Splenomegaly, Premature birth, Hydrops fetalis, Hepatosplenomegaly ORPHA:354
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Short stature, Sensorineural hearing impairm... ORPHA:209905
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea ORPHA:163961
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Fetal pleural effusion OMIM:620167
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Microtia OMIM:619817
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morpho... ORPHA:183
Alg1-Cdg
Respiratory failure, Limitation of joint mobility ORPHA:79327
Saethre-Chotzen Syndrome
Short stature, Prominent crus of helix, External ear malformation, Sensorineural hearing impairme... ORPHA:794
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hydrops fetalis, Macronodular c... OMIM:557000
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Goodpasture Syndrome
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... OMIM:233450
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Increased placental thickness ORPHA:1865
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Acute Generalized Exanthematous Pustulosis
Acantholysis, Dyspnea, Scaling skin, Skin vesicle, Purpura ORPHA:293173
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Edema, Pericardial effusi... OMIM:212065
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single umbilical artery, Fetal... OMIM:620244
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin, Acantholysis ORPHA:79481
Pemphigus Vulgaris
Urticaria, Acantholysis ORPHA:704
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Greenberg Dysplasia
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... OMIM:215140
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Achondrogenesis, Type Ia
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Absence of stomach bubble on feta... OMIM:200600
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Beckwith-Wiedemann Syndrome
Otosclerosis, Cryptorchidism, Wide anterior fontanel, Abnormal earlobe morphology, Anterior creas... ORPHA:116
Leigh Syndrome
Sensorineural hearing impairment, Optic atrophy, Growth delay, Respiratory failure, Intrauterine ... ORPHA:506
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Decreased calvarial os... OMIM:619879
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, A... ORPHA:221
Dravet Syndrome
Limited knee extension, Cyanotic episode, Pallor ORPHA:33069
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infecti... ORPHA:73263
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Acantholysis, Palmoplantar keratoderma, Sparse hair, Orthokerat... OMIM:615508
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Hepatomegaly, Hydrops fetalis, Hepatosplenomegaly OMIM:613673
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Facial palsy, Hydrocephalus, Cranial hyperostosis, Respiratory fa... OMIM:259720
Iga Pemphigus
Skin vesicle, Generalized abnormality of skin, Acantholysis ORPHA:555905
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis,... ORPHA:537
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Recurrent respiratory infections, Death in infancy, Recurrent fractures, Osteo... ORPHA:534
Joubert Syndrome 21
Apnea, Dyspnea, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Respiratory failu... OMIM:615636
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Apnea, Optic neuropathy, Sensorineural hearing impairment, R... OMIM:252010
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... ORPHA:2038
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Oligozoospermia, Growth delay, Severe postnatal growth ... ORPHA:125
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hydrops fetalis, ... ORPHA:699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Microvesicular hepatic steatosis, Bree... OMIM:300868
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:253220
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Limited elbow extension, Elbow flexion contracture, Knee flexion con... OMIM:121050
22Q11.2 Deletion Syndrome
Spina bifida, Atelectasis, Asthma, Chronic pulmonary obstruction, Hydrocephalus, Meningocele, Abn... ORPHA:567
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Long eyebrows OMIM:614407
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis, Dyspnea, Erythema, Re... ORPHA:36426
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Redundant neck skin, Diastasis recti, Flexion contracture, Macroglossia, Respirator... ORPHA:254528
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hydrops fetalis, Hepatosplenomegaly ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Macrotia ORPHA:3342
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Polyhydramnios, Splenomegaly, Biliary c... OMIM:613610
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology ORPHA:255182
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Fraser Syndrome 2
Respiratory failure, Atresia of the external auditory canal, Low-set ears OMIM:617666
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Short stature, Congenital sensorineural hear... OMIM:157800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Anomalous pulmonary venous return, Hypoxemia, Right ventricular hypertrophy ORPHA:860
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Eosinophilic Fasciitis
Acrocyanosis, Arthritis, Myositis, Muscular edema ORPHA:3165
Malignant Atrophic Papulosis
Pleural effusion, Vertigo, Respiratory failure ORPHA:679
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Fibrochondrogenesis 1
Hydrops fetalis OMIM:228520
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Rhabdomyolysis, Sudden episodic apnea, Cyanosis ORPHA:159
Lymphedema-Distichiasis Syndrome