Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Lethal Congenital Contracture Syndrome 3 |
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Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
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Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... |
OMIM:617232 |
Deafness, Autosomal Dominant 85 |
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Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness, Autosomal Dominant 87 |
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Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Nuchal Bleb, Familial |
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Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Hydrops Fetalis, Nonimmune |
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Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
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Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Pontocerebellar Hypoplasia, Type 1C |
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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 |
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Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Deafness, X-Linked 6 |
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Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Lethal Congenital Contracture Syndrome 4 |
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Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... |
OMIM:614915 |
Spinal Muscular Atrophy, Type I |
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Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
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Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Opticocochleodentate Degeneration |
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Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Combined Oxidative Phosphorylation Deficiency 51 |
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Neonatal respiratory distress, Severe short stature, Optic atrophy, Growth delay, Respiratory fai... |
OMIM:619057 |
Fetal Parvovirus Syndrome |
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Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Nemaline Myopathy 8 |
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Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Lymphatic Malformation 8 |
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Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Otosclerosis 7 |
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Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Cardiomyopathy, Familial Restrictive, 6 |
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Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites |
OMIM:619433 |
Asbestos Intoxication |
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Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Hemochromatosis, Neonatal |
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Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Pro... |
OMIM:231100 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Congenital Myopathy 14 |
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Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Lethal Congenital Contracture Syndrome 1 |
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Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, P... |
OMIM:253310 |
Lethal Osteosclerotic Bone Dysplasia |
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Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears, Intra... |
ORPHA:1832 |
Otosclerosis 8 |
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Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
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Otosclerosis, Hearing impairment |
OMIM:608244 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Deafness, Autosomal Dominant 9 |
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Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... |
OMIM:614399 |
Pendred Syndrome |
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Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Glycine Encephalopathy 2 |
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Respiratory failure |
OMIM:620398 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
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Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Glycogen Storage Disease Iv |
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Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosple... |
OMIM:232500 |
Arthrogryposis Multiplex Congenita 6 |
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Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
Multiple Synostoses Syndrome 4 |
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Otosclerosis |
OMIM:617898 |
Acute Interstitial Pneumonia |
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Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cryptorchidism, R... |
OMIM:611890 |
Diffuse Neonatal Hemangiomatosis |
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Hepatomegaly, Premature birth, Polyhydramnios, Hydrops fetalis, Ascites |
ORPHA:2123 |
Deafness, Autosomal Dominant 80 |
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Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Alpha-Thalassemia |
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Hypersplenism, Splenomegaly, Jaundice, Hydrops fetalis, Cholelithiasis |
ORPHA:846 |
Developmental And Epileptic Encephalopathy 71 |
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Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Indomethacin Embryofetopathy |
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Premature birth, Hydrops fetalis, Oligohydramnios |
ORPHA:1909 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
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Respiratory failure requiring assisted ventilation, Death in infancy, Nemaline bodies, Increased ... |
OMIM:620265 |
7Q31 Microdeletion Syndrome |
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Postnatal growth retardation, Hypoplasia of the cochlea, Asthma, Hypoplasia of the semicircular c... |
ORPHA:251061 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Woolly Hair Nevus |
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Enlarged vestibular aqueduct |
ORPHA:79414 |
Developmental And Epileptic Encephalopathy 96 |
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Hydrops fetalis |
OMIM:619340 |
Lymphatic Malformation 12 |
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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 |
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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 |
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Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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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 |
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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 |
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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 |
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Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Hernia, Anterior Diaphragmatic |
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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 |
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Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Abnormal spinal c... |
ORPHA:99947 |
Wrinkly Skin Syndrome |
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Osteopenia, Scapular winging, Redundant skin, Hypoplasia of the musculature, Progeroid facial app... |
OMIM:278250 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Otosclerosis, Papilledema, Short stature, Sensorineural hearing impairment, Optic atrophy, Upper ... |
ORPHA:217093 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension, Type 2 muscle fi... |
OMIM:613845 |
Galactosialidosis |
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Nonimmune hydrops fetalis, Hepatosplenomegaly |
OMIM:256540 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Spontaneous pneumothorax, Craniosynostosis, Hydrocephalus, Osteoporosis, Dural ecta... |
OMIM:610168 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Growth delay, Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia |
ORPHA:3240 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Respiratory failure, Failure to thrive |
ORPHA:70472 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
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Foot osteomyelitis, Abnormal spinal cord morphology, Skin ulcer, Distal amyotrophy, Acral ulceration |
ORPHA:139578 |
Neuromyelitis Optica Spectrum Disorder |
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Respiratory failure, Myelitis |
ORPHA:71211 |
Lethal Congenital Contracture Syndrome 2 |
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Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Larsen-Like Syndrome, Lethal Type |
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Tracheomalacia, Neonatal death, Respiratory insufficiency |
OMIM:245650 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Nonimmune hydrops fetalis, Premature birth, Decreased liver function |
OMIM:618835 |
Congenital Myasthenic Syndrome |
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Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... |
ORPHA:98914 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Nonimmune hydrops fetalis, Premature birth, Decreased liver function |
OMIM:618839 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Glycine Encephalopathy With Normal Serum Glycine |
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Respiratory failure, Optic atrophy, Apnea, Low-set ears |
OMIM:617301 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
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Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Acrokeratosis Verruciformis Of Hopf |
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Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Elevated hepatic transaminase, Abnormality of the liver, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:88618 |
Bresek Syndrome |
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Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Growth delay, Low-... |
ORPHA:85284 |
Benign Familial Infantile Epilepsy |
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Cyanosis, Apnea |
ORPHA:306 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
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Telangiectasia of the skin, Abnormal brainstem morphology, Telangiectasia, Hyperkeratosis, Genera... |
ORPHA:79279 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Abnormal pinna morphology, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive... |
ORPHA:26791 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
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Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
Hereditary Elliptocytosis |
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Splenomegaly, Jaundice, Hydrops fetalis, Prolonged neonatal jaundice, Cholelithiasis |
ORPHA:288 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Curly hair, Acanth... |
OMIM:601214 |
Choanal Atresia |
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Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... |
ORPHA:137914 |
Short-Rib Thoracic Dysplasia 12 |
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Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Hypoplastic nipples, Holopros... |
OMIM:269860 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Neonatal death, Alopecia totalis, Alopecia universalis, Acantholysis |
OMIM:609638 |
Achondrogenesis, Type Ii |
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Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Skeletal muscle atrophy, Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Splenomegaly, Hepatomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
OMIM:224120 |
Amyotrophic Lateral Sclerosis |
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Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... |
ORPHA:803 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Respiratory failure, Failure to thrive, Lower limb amyotrophy, Abnormal morphology of musculature... |
ORPHA:280210 |
Wiedemann-Rautenstrauch Syndrome |
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Osteopenia, Reduced subcutaneous adipose tissue, Prominent scalp veins, Dermal translucency, Spar... |
ORPHA:3455 |
Cyanosis, Transient Neonatal |
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Jaundice, Cyanosis |
OMIM:613977 |
Platyspondylic Dysplasia, Torrance Type |
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Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Multiple Pterygium Syndrome, X-Linked |
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Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Pulmona... |
OMIM:312150 |
Peripartum Cardiomyopathy |
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Orthopnea, Crackles, Dyspnea, Asthma, Obesity, Respiratory failure, Paroxysmal dyspnea, Left vent... |
ORPHA:563 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Death in infancy, Respiratory failure |
OMIM:610678 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Respiratory ins... |
OMIM:608836 |
Superficial Epidermolytic Ichthyosis |
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Erythema, Palmoplantar keratoderma, Acantholysis |
ORPHA:455 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Craniosynostosis, Hydrocephalus, Camptodactyly, Pulmonary artery aneurysm, Dermal t... |
OMIM:609192 |
Buerger Disease |
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Acrocyanosis, Skin ulcer |
ORPHA:36258 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Optic atrophy, Growth de... |
ORPHA:496641 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ... |
ORPHA:370959 |
Distal Renal Tubular Acidosis |
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Short stature, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment... |
ORPHA:18 |
Tetrasomy 5P |
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Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Cyanosis, Hydrocepha... |
ORPHA:3309 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Respiratory failure, Optic atrophy |
OMIM:616505 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Dyspnea, Hydrocephalus, Pneumothorax, Atelectasis, Pulmonary in... |
ORPHA:538 |
Mitochondrial Trifunctional Protein Deficiency |
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Failure to thrive in infancy, Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respi... |
ORPHA:746 |
Trisomy 1Q |
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Increased nuchal translucency, Hydrops fetalis, Polyhydramnios |
ORPHA:261344 |
Lujo Hemorrhagic Fever |
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Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Ecchymosi... |
ORPHA:319213 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:608013 |
20Q11.2 Microdeletion Syndrome |
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Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Respiratory distress, Dyspnea, Optic atrophy, Growth delay, Respiratory failure |
ORPHA:2707 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Microtia, third degree, Posteriorly rotated ears, Severe short stature, Cry... |
ORPHA:2554 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Camptodactyly of finger, Hypoplasia of the musculature |
ORPHA:1101 |
Multiple Pterygium Syndrome, Lethal Type |
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Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Amyoplasia, Pulmona... |
OMIM:253290 |
Hereditary Methemoglobinemia |
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Cyanosis, Exertional dyspnea |
ORPHA:621 |
Metatropic Dysplasia |
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Abnormal enchondral ossification, Flexion contracture, Respiratory insufficiency, Respiratory fai... |
OMIM:156530 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Sensorineural hearing impairment, Respiratory failure, Optic atrophy, Respiratory insufficiency |
OMIM:618329 |
Infantile Krabbe Disease |
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Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Trisomy 13 |
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Hydrops fetalis |
ORPHA:3378 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ... |
ORPHA:1435 |
Fibromuscular Dysplasia, Multifocal |
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Pulmonary artery aneurysm, Striae distensae, Joint hypermobility, Dermal translucency |
OMIM:619329 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Cy... |
ORPHA:284417 |
3-Methylglutaconic Aciduria, Type Viii |
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Death in infancy, Apnea, Sensorineural hearing impairment, Growth delay, Hypopnea, Respiratory fa... |
OMIM:617248 |
Isotretinoin-Like Syndrome |
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Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... |
ORPHA:2306 |
Relapsing Polychondritis |
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Alopecia, Dyspnea, Atelectasis, Erythema, Limitation of joint mobility, Arthritis, Cough, Abnorma... |
ORPHA:728 |
Liver Disease, Severe Congenital |
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Joint laxity, Dry hair, Pulmonary edema, Pneumonia, Jaundice, Nail dystrophy, Cough, Status asthm... |
OMIM:619991 |
Joubert Syndrome 7 |
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Central apnea, Encephalocele, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Hypoplasia of t... |
OMIM:611560 |
Congenital Tricuspid Valve Dysplasia |
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Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... |
ORPHA:555874 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Pericardial effusion, Hypoplastic spleen, Nonimmune hydrops fetalis |
OMIM:619313 |
Gm1-Gangliosidosis, Type I |
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Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:230500 |
Riddle Syndrome |
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Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo... |
ORPHA:420741 |
Tricuspid Atresia |
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Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Prematurely aged appearance, Telangiectasia of the skin, Redundant skin, Abnormality of... |
ORPHA:286 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Striae distensae, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Pneumothor... |
OMIM:613795 |
Mosaic Trisomy 9 |
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Polyhydramnios, Asplenia, Hydrops fetalis, Single umbilical artery, Abnormal liver lobulation, Ol... |
ORPHA:99776 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
Hereditary Bullous Dystrophy, Macular Type |
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Alopecia, Congenital abnormal hair pattern, Pneumonia, Atrichia, Nail dystrophy, Acrocyanosis |
ORPHA:1867 |
Marden-Walker Syndrome |
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Skeletal muscle atrophy, Camptodactyly of finger, Joint stiffness, Hydrocephalus, Radioulnar syno... |
ORPHA:2461 |
Niemann-Pick Disease, Type C2 |
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Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... |
OMIM:607625 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... |
OMIM:600501 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator... |
OMIM:610505 |
Gm1 Gangliosidosis |
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Splenomegaly, Premature birth, Hydrops fetalis, Hepatosplenomegaly |
ORPHA:354 |
Cryofibrinogenemia, Familial Primary |
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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 |
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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 |
|
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Postnatal growth retar... |
OMIM:214800 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Abnormal pulmonary thoracic imaging finding, Cyanosis, Recurrent respiratory infection... |
ORPHA:980 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
Costello Syndrome |
|
Short stature, Posteriorly rotated ears, Wide anterior fontanel, Pneumothorax, Respiratory insuff... |
OMIM:218040 |
Chand Syndrome |
|
Curly hair, Atelectasis, Dry skin |
ORPHA:1401 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Unilateral hypoplasia of pectoralis major muscle, ... |
OMIM:173800 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... |
ORPHA:51636 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Pleural effusion |
OMIM:235510 |
Myhre Syndrome |
|
Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... |
OMIM:139210 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Gaucher Disease Type 3 |
|
Splenomegaly, Hepatomegaly, Pericardial effusion, Hydrops fetalis |
ORPHA:77261 |
Nijmegen Breakage Syndrome |
|
Short stature, Hearing abnormality, Recurrent pneumonia, Respiratory failure, Macrotia |
ORPHA:647 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Limitation of joint mobility, Erythema, Urticaria, Arthritis, Acrocyanosis, Purpura |
ORPHA:343 |
Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... |
ORPHA:1199 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity, Arthritis |
ORPHA:320365 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature |
OMIM:617239 |
Solitary Bone Cyst |
|
Pathologic fracture, Muscular edema, Unicameral bone cyst, Abnormal spinal cord morphology |
ORPHA:83468 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Frontal hirsutism, Cyanosis |
ORPHA:3304 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, White hair, Abnormal brainstem morphology, Reduced bone mineral density |
ORPHA:2720 |
Listeriosis |
|
Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Abnormal brainstem MRI s... |
ORPHA:533 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Growth delay, Intrauterine growth retardation, Short stature |
ORPHA:73273 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Hydrops fetalis |
OMIM:263520 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Macroglossia, Myopathy, Pleural effusion, P... |
OMIM:261740 |
Fucosidosis |
|
Generalized hyperkeratosis, Decreased muscle mass, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Pulmonary artery hypoplasia, Cyanosis, Osteoporosis |
ORPHA:2326 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Ascites... |
ORPHA:646 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Limb hypertonia |
OMIM:619580 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
Mgat2-Cdg |
|
Hydrops fetalis |
ORPHA:79329 |
Blomstrand Lethal Chondrodysplasia |
|
Premature birth, Hydrops fetalis, Polyhydramnios |
ORPHA:50945 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Respiratory failure, Pneumothorax |
ORPHA:445038 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Hepatitis, Hydrops fetalis, Hepatocellular carcinoma |
ORPHA:3261 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Respiratory distress... |
ORPHA:79139 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrops fetalis, Polyhydramnios |
OMIM:616546 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Severe short stature, Dyspnea, Abnormality of the ear, Abnormal earlobe mor... |
ORPHA:2556 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Osteoarthritis, Reduced bone mineral density, Generalized ab... |
ORPHA:740 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira... |
OMIM:613658 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal pinna morphology, Postnatal growth retardation, Cryptorchidism, Pn... |
ORPHA:3404 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Cyanosis, Tachypnea |
ORPHA:3426 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hydrops fetalis |
OMIM:265000 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft |
OMIM:617542 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory failure |
OMIM:617809 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, P... |
ORPHA:96334 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Pallor, Cough, Pulmonary edema |
ORPHA:137675 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Posteriorly rotated ears, Cryptorchidism, Dyspnea, Abnormal tragus morpholo... |
ORPHA:2636 |
Joubert Syndrome 2 |
|
Central apnea, Encephalocele, Episodic tachypnea, Brainstem dysplasia, Hydrocephalus, Thickened s... |
OMIM:608091 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Limited hip extension, Generalized joint laxity, Hydrocep... |
OMIM:100800 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U... |
ORPHA:141127 |
Ethylene Glycol Poisoning |
|
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration... |
ORPHA:31826 |
Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis |
ORPHA:268249 |
Pemphigus Erythematosus |
|
Acantholysis |
ORPHA:79480 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... |
ORPHA:88619 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Highly arched eyebrow, Brainstem dysplasia, Occipital myelomen... |
OMIM:213300 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... |
OMIM:187300 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Arthrogryposis multi... |
OMIM:617822 |
Tarp Syndrome |
|
Cyanosis, Apnea, Abnormal hair pattern, Pulmonary hypoplasia, Thick eyebrow |
ORPHA:2886 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Wide anter... |
OMIM:304120 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Growth delay, Respiratory failure... |
ORPHA:731 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormal midbrain ... |
ORPHA:356961 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... |
ORPHA:99104 |
Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Hepatitis, Cirrhosis |
ORPHA:355 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respirat... |
ORPHA:79404 |
Warty Dyskeratoma |
|
Acantholysis |
ORPHA:69745 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Stiff neck, Sinusitis, Facial palsy, Pneumonia, Abnormal medulla oblongata m... |
ORPHA:68 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Trichiasis, ... |
ORPHA:95455 |
47,Xyy Syndrome |
|
Asthma, Abnormal brainstem morphology, Hydrocephalus |
ORPHA:8 |
Darier-White Disease |
|
Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation, Angiokeratoma |
ORPHA:53721 |
Myasthenia Gravis |
|
Dyspnea, Myositis, Acrocyanosis, Rheumatoid arthritis |
ORPHA:589 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Cyanosis, Block vertebrae, Aqueductal stenosis, My... |
OMIM:306955 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Alopecia, Abnormalit... |
ORPHA:273 |
Insulin-Like Growth Factor I, Resistance To |
|
Severe short stature, Short stature, Growth delay, Low-set ears, Intrauterine growth retardation |
OMIM:270450 |
Abetalipoproteinemia |
|
Myopathy, Respiratory failure, Failure to thrive, Distal lower limb muscle weakness |
ORPHA:14 |
Duane-Radial Ray Syndrome |
|
Facial palsy, Spina bifida occulta, Fused cervical vertebrae, Small thenar eminence, Pectoralis h... |
OMIM:607323 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Brain stem compre... |
OMIM:602080 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Abnormal brainstem MRI signal intensity, Upper limb muscle weakness, Fac... |
ORPHA:254930 |
Hepatoerythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
Gangliocytoma |
|
Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor |
ORPHA:251937 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Proportionate short stature, Optic atrophy, Protruding ear, Respiratory f... |
ORPHA:500150 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Thickened nuchal skin fold, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pleural effusion... |
OMIM:265380 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Hamstring contractures, Facial myokymia, Abnormal br... |
ORPHA:139396 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Abnormal midbrain morphology, Asthma, Recurre... |
ORPHA:293987 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Myelopathy, Fused cervical vertebr... |
ORPHA:268882 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Recurrent fractures, Abnormal pleura morphology, Osteolysis, Ac... |
ORPHA:1764 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum |
OMIM:618325 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormality of the stapes, Aganglionic megacolon, Wide anterior fontanel, R... |
ORPHA:798 |
Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hepatic calcification, Pancreatic c... |
ORPHA:51608 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy |
OMIM:617478 |
Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ... |
ORPHA:206448 |
Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Respiratory failure requiring assisted ventilation, Abno... |
ORPHA:83597 |
Primary Sjögren Syndrome |
|
Myositis, Abnormal pulmonary thoracic imaging finding, Cutis marmorata, Lymphocytic interstitial ... |
ORPHA:289390 |
Yunis-Varon Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios |
ORPHA:3472 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa... |
ORPHA:805 |
Adrenomyeloneuropathy |
|
Frontal balding, Atrophy of the spinal cord, Abnormal spinal cord morphology, Fine hair, Dorsal c... |
ORPHA:139399 |
Cardiac Valvular Dysplasia 1 |
|
Hydrops fetalis, Edema |
OMIM:212093 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Reduced bone mineral density |
ORPHA:83629 |
Osteogenesis Imperfecta |
|
Osteopenia, Neonatal respiratory distress, Recurrent fractures, Fractures of the long bones, Oste... |
ORPHA:666 |
Digeorge Syndrome |
|
Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis |
OMIM:188400 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology, Flexion contracture of finger, Osteomyelitis, Camptodactyly |
ORPHA:88628 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal midbrain morphology, Sparse eyebrow, Hypoplasia of the pons, Fin... |
ORPHA:444072 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration |
OMIM:223900 |
Truncus Arteriosus |
|
Cyanosis, Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmona... |
ORPHA:3384 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Norrie Disease |
|
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea... |
ORPHA:649 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation |
ORPHA:268943 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, E... |
ORPHA:2299 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Abnormal pattern of respiration, Supernumerary nipple, Hyperventilation |
ORPHA:2896 |
Double Outlet Left Ventricle |
|
Pulmonary artery stenosis, Cyanosis, Tachypnea |
ORPHA:3427 |
Semilobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube def... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube def... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube def... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Hydrocephalus, Flexion contracture, Abnormal brainstem morphology, Neural tube def... |
ORPHA:93924 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Congenital contracture, Hypoplasia ... |
OMIM:236670 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cutis marmorata, Dry skin, Arthritis, Prolonged neonatal j... |
ORPHA:51 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis, Re... |
ORPHA:48435 |
Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Small thenar em... |
OMIM:147750 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Diamond-Blackfan Anemia |
|
Nonimmune hydrops fetalis |
ORPHA:124 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Myelopathy, Hydrocephalus, Spinal cord tumor, Brain stem compression, Wrist drop, F... |
ORPHA:637 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Hydrops fetalis |
ORPHA:93271 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... |
ORPHA:97214 |
Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Stiff neck, Abnormal medulla oblongata morphology, Facial palsy, Abnorma... |
ORPHA:297 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Abnormality of masseter muscle, Abnormality of joint... |
ORPHA:314621 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Striae distensae, Prematurely aged appearance, Poor wound healing, Osteoarthritis, Ge... |
ORPHA:287 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Acrocyanosis, Cutis marmorata, Recurrent fractures |
ORPHA:416 |
Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Lower limb muscle weakness, Atrophy/... |
ORPHA:247245 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Cutis marmorata, Highly arched eyebrow, Cutis laxa, Coar... |
OMIM:303600 |
Arima Syndrome |
|
Brainstem dysplasia, Dyspnea, Tachypnea, Hypoplasia of the brainstem, Molar tooth sign on MRI, Oc... |
OMIM:243910 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Shoulder muscle hypoplasia, Spina bifida, Fused cervical vertebrae, Syringomyel... |
OMIM:274000 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Abnormal brainstem morphology, Ankle flexion contracture |
ORPHA:464311 |
Limb Body Wall Complex |
|
Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Abnormal spinal co... |
ORPHA:2369 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Osteoarthritis, Limitation of joint mobility, Aplasia/Hypoplasia of the abdominal wall mus... |
ORPHA:285 |
Yunis-Varon Syndrome |
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Premature birth, Hydrops fetalis, Polyhydramnios |
OMIM:216340 |
Meningioma |
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Facial palsy, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary ... |
ORPHA:2495 |
Tetrasomy 9P |
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Myositis, Jaundice, Abnormal spinal cord morphology, Hydrocephalus, Arthritis, Pulmonary hypoplas... |
ORPHA:3310 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Abnormal brainstem morphology |
ORPHA:93256 |
Mosaic Trisomy 20 |
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Fused cervical vertebrae, Vertebral fusion, Abnormal spinal cord morphology, Limited pronation/su... |
ORPHA:1724 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |