Gene Summary

mitogen-activated protein kinase 6
Prkm6,  Mapk63,  D130053K17Rik,  2610021I23Rik,  Erk3,  ERK3,  Mapk4,  Prkm4

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Mapk6em1(IMPC)Mbp HET   Early adult 5.91×10-05
male infertility Mapk6em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Mapk6em1(IMPC)Mbp HET Early adult 0.00
decreased brain size Mapk6em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Mapk6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Mapk6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Mapk6em1(IMPC)Mbp HET Early adult 0.00
cataract Mapk6em1(IMPC)Mbp HET   Early adult 1.77×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mapk6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mapk6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... ORPHA:70589
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Asbestos Intoxication
Wheezing, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive... ORPHA:2302
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Limb fasciculations, Cough, Tremor, Distal sensory impairment, Respiratory failure, Dy... ORPHA:90117
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... ORPHA:60032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... OMIM:610978
Bronchogenic Cyst
Dysphagia, Paresthesia, Pneumonia, Bronchogenic cyst, Cough, Abnormality of the peritoneum, Abnor... ORPHA:2357
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Pericardial effusion, Bronchiecta... ORPHA:79126
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Tongue fasciculations... OMIM:253300
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Hemiparesis,... OMIM:600561
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... OMIM:263000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective cili... OMIM:615067
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:611638
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic paralysis, Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory d... OMIM:614399
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... ORPHA:70588
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia, Apnea OMIM:615228
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Atelosteogenesis, Type Ii
Death in infancy, Increased intervertebral space, Respiratory insufficiency, Coronal cleft verteb... OMIM:256050
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary arteria... OMIM:619003
Rowley-Rosenberg Syndrome
Cor pulmonale, Right ventricular hypertrophy, Pulmonary arterial hypertension, Reduced subcutaneo... OMIM:268500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Dysphagia, Recurrent aspiration pneumonia, Limb myoclonus, Frequent falls, Respirator... ORPHA:2590
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Abn... ORPHA:50251
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemipare... ORPHA:71277
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Butyrylcholinesterase Deficiency
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation, Abnormality o... ORPHA:132
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distre... ORPHA:77260
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Kyphoscoliosis, Ataxia OMIM:619099
Primary Ciliary Dyskinesia
Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect... ORPHA:244
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Intrauterine growt... ORPHA:2257
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy OMIM:614096
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Hypertonia, Respiratory failure OMIM:611722
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death OMIM:245650
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Dysphagia, Frequent falls, Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Atelectasis ORPHA:254361
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Scoliosis, Kyphosis OMIM:617087
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis, Respiratory insufficiency, Paresthesia ORPHA:640
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Rigidity, Myoclonus, Respiratory ... OMIM:619057
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Dysphagia, Knee clonus, Stridor, Respiratory insufficiency, Vocal cord paralysis, Kyp... OMIM:211530
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatomegaly, Crackles, Ground-glass opacification, Cardiomegaly,... ORPHA:99931
Aniridia 3
Cataract OMIM:617142
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia, Dysphagia, Tremor OMIM:618637
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Death in infancy, Respiratory ... OMIM:614299
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Hepatitis OMIM:219400
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Patent foram... OMIM:616867
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... ORPHA:240103
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Respiratory distress, Pulmonary hypoplasia, Intrauterine growth ret... OMIM:616733
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Pulmonary arterial hypertension, C... ORPHA:2414
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... ORPHA:95430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Death in infancy, Respiratory insufficiency, Myoclonus, Splenomegaly, Recurrent res... ORPHA:139406
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Vertebral segmentation defect, Abnormal lung lobation ORPHA:2631
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... ORPHA:266
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Short neck, Respiratory distress, Respiratory failure, Dyspnea ORPHA:1832
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Ab... ORPHA:3032
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... OMIM:610910
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Thanatophoric Dysplasia
Intrauterine growth retardation, Respiratory insufficiency, Abnormal sacroiliac joint morphology,... ORPHA:2655
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Rigidity, Neonatal death, Apnea, Ataxia, Spasticity, Respiratory failure OMIM:610127
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass ... ORPHA:199241
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Neonatal death, Kyphosis, Respiratory failure, ... OMIM:611890
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Myoclonus, Hypertonia, Spasticity, Respiratory failure OMIM:225753
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Spastic tetraparesis, Respiratory insufficiency OMIM:616081
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Chorea, Abnormal heart morpholog... ORPHA:70472
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Anisospondyly OMIM:224410
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Dyspnea, Gait ataxia OMIM:606183
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Tremor, At... ORPHA:363400
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Scoliosis, Kyphosis OMIM:618291
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic paraplegia, Scoliosis OMIM:611225
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... OMIM:615415
Pericardial And Diaphragmatic Defect
Hypoxemia, Bicuspid aortic valve, Neonatal respiratory distress, Abnormal heart morphology, Pulmo... ORPHA:2847
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... ORPHA:411703
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Rigidity OMIM:613869
Brain-Lung-Thyroid Syndrome
Clumsiness, Neonatal respiratory distress, Incoordination, Respiratory failure, Recurrent respira... ORPHA:209905
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defec... ORPHA:60025
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Achondrogenesis Type 2
Unossified sacrum, Absent vertebral body mineralization, Cardiorespiratory arrest, Pulmonary hypo... ORPHA:93296
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Stereotypy OMIM:616341
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Platyspondyly, Kyphosis, Respiratory failure, Thoracolumbar scoliosis OMIM:313420
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Tachypnea, Right ... ORPHA:555874
Neuralgic Amyotrophy
Acrocyanosis, Paresthesia, Respiratory insufficiency ORPHA:2901
Nemaline Myopathy 8
Respiratory failure, Dysphagia, Death in infancy OMIM:615348
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Hyperekplexia 4
Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis OMIM:618011
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Frequent falls, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:300718
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Dysphagia, Intrauterine growth retardation, Opisthotonus, Petechiae, Neonatal death... OMIM:608013
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia, Scoliosis, Respiratory insufficiency OMIM:255320
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Odontochondrodysplasia 1
Death in infancy, Coronal cleft vertebrae, Biconvex vertebral bodies, Platyspondyly, Respiratory ... OMIM:184260
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Absent in utero ossification of vertebral bodies, Intrauterine growth retardation, Pulmonary hypo... OMIM:608022
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Tremor, Hypertonia, Respiratory failure OMIM:617248
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly, Ataxia, Recurrent respiratory infections ORPHA:796
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltra... ORPHA:70578
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... ORPHA:449280
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:98914
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Hepatomegaly, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated ... OMIM:612387
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Stridor, Vocal cord paralysis, Cough, Upper airway obstruction, ... ORPHA:142
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dysphagia, Spinal deformities, Respiratory insufficiency due to muscle we... ORPHA:352447
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Respiratory distress, Respiratory insufficiency, Tongue fasciculations ORPHA:238329
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chro... OMIM:244400
Scimitar Syndrome
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Abnorm... ORPHA:185
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Tonne-Kalscheuer Syndrome
Dysphagia, Abnormal heart morphology, Tremor, Spasticity, Pulmonary hypoplasia OMIM:300978
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Bradykinesia, Tremor, Respiratory distress, Parkinsonism with favorable response to dop... ORPHA:240085
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis, Paresthesia OMIM:612740
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity OMIM:606777
Congenital Muscular Dystrophy With Intellectual Disability
Poor gross motor coordination, Respiratory insufficiency, Decreased cervical spine mobility, Spin... ORPHA:370968
Spinocerebellar Ataxia Type 1
Postural tremor, Impaired proprioception, Dysphagia, Dysmetria, Chorea, Bradykinesia, Fasciculati... ORPHA:98755
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Elevated hepatic transaminase, Tachypnea, Pneumothorax, G... ORPHA:454836
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis ORPHA:91130
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Waardenburg Syndrome Type 3
Acrocyanosis, Atrial septal defect, Spastic paraplegia, Tracheomalacia, Atelectasis ORPHA:896
Cataract OMIM:190330
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Death in infancy, Episodic respiratory distress, Head titubation, Dysmetria, Episodic ... OMIM:301790
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Respiratory insufficiency, Respiratory insu... ORPHA:365
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Cardiomyopathy, Respiratory distress, Hypertonia, Hepatic steatosis ORPHA:26792
Hepatic Veno-Occlusive Disease
Respiratory failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase ORPHA:890
Metatropic Dysplasia
Respiratory insufficiency, Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospo... OMIM:156530
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Respirato... OMIM:609981
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death, Respiratory insuffic... OMIM:601612
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Choanal Atresia
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... ORPHA:137914
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Pulmonary hypoplasia, Stillbirth, Neonatal death OMIM:236500
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure OMIM:618233
Absence Of The Pulmonary Artery
Hypocapnia, Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal pulmonary tho... ORPHA:980
Nipah Virus Disease
Myoclonus, Cough, Tremor, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Farber Disease
Respiratory insufficiency, Hepatic fibrosis, Elevated hepatic transaminase, Diffuse reticular or ... ORPHA:333
Esophageal Atresia
Ventricular septal defect, Chronic pulmonary obstruction, Episodic respiratory distress, Laryngot... ORPHA:1199
Tracheal Agenesis
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Neonatal death, Hepatic steatosis, Respiratory distress, Pulmonary hypoplasia, Hepa... OMIM:231680
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Elevated hepatic transaminase, Myocardial fibrosis, Cough, Nodul... ORPHA:210136
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, Elevated hepatic tra... ORPHA:445038
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Cataract, Microcornea ORPHA:139471
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Dysphagia, Lower limb spasticity, Fasciculations, Ankle clonus, Tetraparesis, Spas... OMIM:613954
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Distal sensory... OMIM:616505
Ciliary Dyskinesia, Primary, 2
Sinusitis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Absent inner... OMIM:606763
Pallister-Hall-Like Syndrome
Death in infancy, Abnormal heart morphology, Pulmonary hypoplasia OMIM:241800
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea,... ORPHA:98913
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... OMIM:618316
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis, Stridor, Dysphagia OMIM:150260
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia, Widening of cervical spinal canal OMIM:253310
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory distress, Recurrent respiratory... ORPHA:2759
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Nephronophthisis 2
Respiratory failure, Situs inversus totalis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Intrauterine growth retardation, Respiratory insufficiency, Scoliosis ORPHA:994
Pleoconial Myopathy With Salt Craving
Paralysis, Salt craving OMIM:262900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory insufficiency, Death ... OMIM:245400
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Death in infancy, Pancreatitis, Hepatic steatosis, Elevated circulat... OMIM:619386
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Respiratory distress, Intrauterine growth retardation, Death in childhood OMIM:615597
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Torticollis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck, Scoliosis ORPHA:75840
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal death, Respira... OMIM:228940
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral va... ORPHA:860
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Sudden episodic apnea, Abnormal pattern of respiration, Im... ORPHA:3095
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Mitral valve prolapse, Pulmonary hypoplasia, Respiratory insufficiency, ... ORPHA:536467
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Proximal Spinal Muscular Atrophy
Dysphagia, Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weak... ORPHA:70
Myopathy And Diabetes Mellitus
Babinski sign, Frequent falls, Progressive cerebellar ataxia, Respiratory distress, Impaired vibr... ORPHA:2596
Primary Dystonia, Dyt4 Type
Involuntary movements, Dysphagia, Torticollis, Kyphoscoliosis, Respiratory distress, Dysdiadochok... ORPHA:98805
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia, Hemivertebrae OMIM:207620
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Vocal cord paresis, Distal sensory... OMIM:606071
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Cystic Echinococcosis
Abnormality of the vertebral column, Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary trac... ORPHA:400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Pulmonary arterial hypertension, Splenom... OMIM:608149
Locked-In Syndrome
Respiratory insufficiency, Cerebral palsy, Tetraplegia, Hypertonia, Spasticity, Tetraparesis, Rec... ORPHA:2406
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Intrauterine growth retardation, Torticollis, Cardiomegaly, Overriding... OMIM:617022
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Intrauterine growth retardation OMIM:236640
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis OMIM:605285
Autosomal Dominant Hyper-Ige Syndrome
Cough, Generalized abnormality of skin, Recurrent respiratory infections, Scoliosis, Atelectasis ORPHA:2314
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency d... ORPHA:308552
Anencephaly 2
Anophthalmia OMIM:619452
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Cardiome... OMIM:616897
Sinusitis, Abnormality of the vertebral column, Chronic pulmonary obstruction, Pneumonia, Bronchi... ORPHA:1163
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Spasticity, Respiratory failure ORPHA:168486
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Short neck, Pulmonary hypoplasia, Periportal f... OMIM:263210
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... OMIM:616037
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Niemann-Pick Disease, Type B
Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Diffuse reticular or finely nodular... OMIM:607616
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Scoliosis, Kyphosis ORPHA:1548
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatic steatosis OMIM:615595
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Paraplegia, Somatic sensory dysfunction ORPHA:71211
Abnormal heart morphology, Cardiomyopathy, Kyphosis, Decreased liver function, Respiratory failur... ORPHA:79327
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia, Pulmonary hypoplasia ORPHA:171430
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cataract, Microcornea OMIM:610125
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress, Elevated hepatic transamin... OMIM:615042
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Death in infancy, Intrauterine growth retardation, Opisthotonus, Spasticity, Respir... OMIM:610678
Leigh Syndrome
Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of respiration, Ataxia, Spas... OMIM:256000
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Intrauterine growth retardation, Respiratory ... OMIM:601186
Galactosemia Iv
Cataract OMIM:618881
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... ORPHA:90060
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Snakebite Envenomation
Paralysis, Ecchymosis, Pseudobulbar paralysis, Angioedema, Epistaxis, Respiratory paralysis, Eryt... ORPHA:449285
Cardiomyopathy, Spastic tetraparesis, Decreased liver function, Hypertonia, Pulmonary hypoplasia ORPHA:79321
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Vertebral fusion, Hypoplastic heart, Pulmonary hypoplasia, Abnor... OMIM:312150
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Respiratory distress, Ventilator dependence with inabilit... ORPHA:254864
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... ORPHA:3309
X-Linked Intellectual Disability, Stocco Dos Santos Type
Recurrent respiratory infections, Kyphosis ORPHA:85288
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Impaired distal proprioception, Impaired distal tactile sensation,... ORPHA:99948
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Respiratory insufficien... OMIM:269860
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Cardiomyopathy, Fusion of midcervical facet joints, Distal sensory imp... OMIM:606842
Benign Familial Infantile Epilepsy
Cyanosis, Hypertonia, Apnea, Limb myoclonus ORPHA:306
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Acute Peripheral Arterial Occlusion
Paralysis, Impaired distal tactile sensation, Paresthesia ORPHA:90064
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Upper limb spasticity, Spastic paraplegia, Spas... OMIM:614409
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Kyphoscoliosis OMIM:618006
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Impaired temperature sensation, Paresthesia, Frequent falls, Impa... ORPHA:99947
Arnold-Chiari Malformation Type Ii
Dysphagia, Opisthotonus, Pneumonia, Paraplegia, Apnea, Paraparesis, Ataxia, Cyanosis, Spasticity,... ORPHA:1136
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis ORPHA:101075
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Respiratory insufficiency, Abnormal vertebral morphology, Ab... OMIM:276950
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Short neck, Pulmonary hypoplasia ORPHA:1486
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Dysphagia, Cerebral palsy, Respiratory insufficiency due to m... ORPHA:230800
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Cardiomyopathy, Left ventricular hypertrophy, Respiratory distress, Spinal rigidity, Dyspn... ORPHA:86812
Episodic Ataxia Type 1
Clumsiness, Poor coordination, Choreoathetosis, Kyphoscoliosis, Respiratory distress, Hypertonia,... ORPHA:37612
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Vertebral fusion, Hypoplastic heart, Pulmonary hypoplasia, Abnor... OMIM:253290
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Intrauterine growth retardation, Respiratory insufficiency, Spastic tetraplegia OMIM:615330
Stuve-Wiedemann Syndrome 1
Dysphagia, Respiratory insufficiency, Impaired pain sensation, Pulmonary arterial medial hypertro... OMIM:601559
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Dysphagia, Respiratory insufficiency, Endoca... ORPHA:183
Complete Atrioventricular Septal Defect
Wheezing, Hepatomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Crac... ORPHA:1329
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Pulmonary Arteriovenous Malformation
Hypoxemia, Bacterial endocarditis, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Pu... ORPHA:2038
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Myoclonus, Death in infancy OMIM:618240
Neurogenic Arthrogryposis Multiplex Congenita
Abnormal heart morphology, Respiratory insufficiency due to muscle weakness, Fasciculations, Resp... ORPHA:1143
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Intrauterine growth retardation, Abn... ORPHA:1194
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Dysphagia, Neonatal respiratory distress, Cardiomyopathy, Secundum atrial septal defect, Pulmonar... OMIM:616866
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Aortopulmonary window, Anomalous origin of left pulmonary artery from ... ORPHA:99050
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Neonatal death, Splenomegaly,... OMIM:263200
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Dysphagia, Impaired temperature sensation, Stridor, Impaired pain sensation, Kyphoscoliosis, Fasc... OMIM:619574
Spinocerebellar Ataxia, Autosomal Recessive 8
Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis OMIM:610743
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
Chylopericardium, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Res... ORPHA:538
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract ORPHA:3378
Niemann-Pick Disease, Type C2
Hepatomegaly, Dysphagia, Respiratory insufficiency, Prolonged neonatal jaundice, Cataplexy, Stere... OMIM:607625
Variegate Porphyria
Paralysis, Cutaneous photosensitivity OMIM:176200
Bickerstaff Brainstem Encephalitis
Impaired proprioception, Babinski sign, Pneumonia, Dysesthesia, Hypercapnia, Tetraplegia, Ataxia,... ORPHA:79138
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Progressive gait ataxia, Splenomegaly, Hepatosplenomegaly, Abnormal lung m... ORPHA:646
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Obstructive sleep apnea, Cough, Cirrhosis, Reticular pattern on pulmonary HRCT, Decreas... OMIM:614742
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Tetrap... OMIM:618278
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Dysphagia, Kyphosis OMIM:618323
Nephronophthisis-Like Nephropathy 2
Polydipsia, Bronchiectasis, Cough, Pulmonary infiltrates, Recurrent respiratory infections OMIM:619468
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Hyperlordosis... OMIM:310200
Truncus Arteriosus
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus, Abnormal lung lob... ORPHA:3384
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Pneumothorax, Neonatal death, Respiratory distress, Respiratory ... OMIM:266910
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract OMIM:120433
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Hypertonia, Opisthotonus, Cyanosis OMIM:250800
Lujo Hemorrhagic Fever
Myocarditis, Ecchymosis, Dysphagia, Crackles, Rhinitis, Fulminant hepatitis, Respiratory distress... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Scoliosis OMIM:300934
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis ORPHA:101078
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... ORPHA:444013
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Joubert Syndrome 21
Apnea, Ataxia, Oculomotor apraxia, Dyspnea, Pulmonary hypoplasia OMIM:615636
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Mercury Poisoning
Interstitial pneumonitis, Tremor, Respiratory distress, Respiratory failure, Dyspnea ORPHA:330021
Laryngeal Abductor Paralysis
Paralysis, Congenital laryngeal stridor OMIM:308850
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Crackles, Bronchiectasis, ... ORPHA:79128
Marden-Walker Syndrome
Dextrocardia, Intrauterine growth retardation, Kyphosis, Short neck, Pulmonary hypoplasia, Scoliosis OMIM:248700
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Legionnaires Disease
Myocarditis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Endocarditi... ORPHA:549
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Intrauterine growth retardation, C1-C2 vertebral abnormality, Pulm... ORPHA:96179
Lopes-Maciel-Rodan Syndrome
Dysphagia, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramid... OMIM:617435
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic paralysis, Intrauterine growth retardation, Tachypnea, Ventilator dependence with i... OMIM:604320
Synaptic Congenital Myasthenic Syndromes
Dysphagia, Neonatal respiratory distress, Respiratory insufficiency, Frequent falls, Right ventri... ORPHA:98915
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Death in infancy, Respiratory insufficien... ORPHA:1120
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... ORPHA:3392
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Respiratory failure, Recurrent respiratory infections, Bruising susce... ORPHA:3226
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Intermediate Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171433
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Kyphosis, Dyspnea ORPHA:87876
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Telangiectasia, Splenomegaly, Tremor, Respiratory distress, Ataxia, Elevated hepati... OMIM:608799
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Choreoathetosis, Chorea, Pancreatitis, Respiratory distress, Hemiplegia/hemiparesis ORPHA:289916
Leigh Syndrome With Cardiomyopathy
Involuntary movements, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Chorea, Ap... ORPHA:70474
Chiari Malformation Type Ii
Dysphagia, Opisthotonus, Ataxia, Cyanosis, Inspiratory stridor OMIM:207950
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... OMIM:614874
Cdkl5-Deficiency Disorder
Abnormal respiratory system physiology, Impaired pain sensation, Kyphosis, Stereotypical hand wri... ORPHA:505652
Anophthalmia Plus Syndrome
Anophthalmia, Iris coloboma ORPHA:1104
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Hereditary Methemoglobinemia
Athetosis, Spastic tetraplegia, Exertional dyspnea, Hypertonia, Cyanosis, Spasticity ORPHA:621
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Myoclonus, Respiratory distress, Hypertonia, Ataxia, Spasticity OMIM:618426
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary inters... OMIM:617180
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom... ORPHA:99125
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dysphagia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Re... ORPHA:496641
Riddle Syndrome
Clumsiness, Telangiectasia, Pneumonia, Poor hand-eye coordination, Chronic sinusitis, Conjunctiva... ORPHA:420741
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Abnormal heart morphology, Anisospondyly, Short neck, Pulmonary hypopl... ORPHA:1865
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Respiratory insufficiency, Hepatic fibrosis, Pancreatic cysts, Bile duct prolif... OMIM:208500
Folinic Acid-Responsive Seizures
Chorea, Apnea, Spastic tetraparesis, Respiratory distress, Hypertonia, Ataxia ORPHA:79097
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Tremor, Ataxia, Tetraparesis, Respiratory failure OMIM:617186
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Cyanosis, Transient Neonatal
Hepatomegaly, Cyanosis, Jaundice OMIM:613977
Congenital Disorder Of Deglycosylation 1
Involuntary movements, Athetosis, Hepatomegaly, Impaired oral bolus formation, Dysmetria, Chorea,... OMIM:615273
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Hepatomegaly, Concentric hypertrophic cardiomyopathy, Intrauterine growth... OMIM:610505
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Abnormal heart morphology, Cardiomyopathy... ORPHA:26791
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Paroxysmal dyspnea, Left atrial enlargement, Right ventricul... ORPHA:563
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Cataract, Iris coloboma OMIM:212550
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Absent or minimally ossified vertebral bodies, Horizontal sa... OMIM:215140
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Pulmonary hypoplasia, Intrauterine growth retardation, Splenomegaly ORPHA:3035
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Paraplegia, Oral-pharyngeal dysphagia, Respiratory insufficiency ... ORPHA:98897
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Splenomegaly ORPHA:1046
Postencephalitic Parkinsonism
Involuntary movements, Babinski sign, Dysphagia, Abnormal respiratory system physiology, Rigidity... ORPHA:97349
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single ventricle, Erythema, Stillbirth, Vertebral hypoplasia, Abnormal cardiac septum morphology,... OMIM:308050
Hsd10 Disease, Infantile Type