Gene Summary

mitogen-activated protein kinase 6
Mapk63,  Prkm6,  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
male infertility Mapk6em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Mapk6em1(IMPC)Mbp HET Early adult 0.00
cataract Mapk6em1(IMPC)Mbp HET   Early adult 5.14×10-07
abnormal eye morphology Mapk6em1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Mapk6em1(IMPC)Mbp HET   Early adult 5.16×10-07
decreased brain size Mapk6em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Mapk6em1(IMPC)Mbp HET Early adult 0.00
decreased body length Mapk6em1(IMPC)Mbp HET   Early adult 6.98×10-05
preweaning lethality, incomplete penetrance Mapk6em1(IMPC)Mbp HOM   Early adult 0.00
increased startle reflex Mapk6em1(IMPC)Mbp HET   Early adult 3.55×10-05

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.


XRay Images Whole Body Dorso Ventral

39 Images

MicroCT E18.5

Embryo reconstruction

8 Images


XRay Images Whole Body Lateral Orientation

13 Images

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 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular hypertrophy, Abnorm... ORPHA:70589
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Ventr... OMIM:610978
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Bronchogenic Cyst
Back pain, Abnormal pericardium morphology, Abnormal lumbar spine morphology, Abnormal pleura mor... ORPHA:2357
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Limb fasciculations, Distal sensory impairment, Cough, Respiratory failure ... ORPHA:90117
Spinal Muscular Atrophy, Type I
Atrial septal defect, Respiratory insufficiency, Death in childhood, Ventricular septal defect, T... OMIM:253300
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Situs i... OMIM:615067
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Meconium Aspiration Syndrome
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Aspiration pneumonia, Wheezing,... ORPHA:70588
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... ORPHA:70587
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Hemiparesis, Chorea, Central ... ORPHA:71277
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Respiratory insufficienc... OMIM:256050
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Spasticity, Dysphagia, Abnormal pattern ... ORPHA:77260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Scoliosis, Limb myoclonus, Frequent falls, Tremor, Recurrent aspiration pn... ORPHA:2590
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, Pulmonary arterial hypertens... OMIM:619003
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Death in infancy, Pneumonia OMIM:254120
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... ORPHA:50251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Kyphoscoliosis, Ataxia OMIM:619099
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Primary Pulmonary Hypoplasia
Apnea, Asthma, Intrauterine growth retardation, Secundum atrial septal defect, Hypoxemia, Cyanosi... ORPHA:2257
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Myoclonus, Respiratory insufficiency, Death in infancy, Dystonia, Rec... ORPHA:139406
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy OMIM:614096
Butyrylcholinesterase Deficiency
Respiratory failure, Paralysis, Abnormality of the liver, Respiratory failure requiring assisted ... ORPHA:132
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Frequent falls, Atelectasis, Dysphagia, Exertional dyspnea, Pulmonary fibrosis ORPHA:254361
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crack... ORPHA:99931
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... ORPHA:1302
Phosphoserine Aminotransferase Deficiency
Apnea, Hypertonia, Myoclonus, Cyanotic episode, Death in infancy OMIM:610992
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract, Tremor OMIM:165300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Hypertonia, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory failure OMIM:611722
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Aspiration pneumonia, Myoclonus, Rigidity, Neonatal respiratory ... OMIM:619057
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Scoliosis, Diaphragmatic paralysis, Restrictive ... OMIM:614399
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Distal sensory impairment, Respiratory insufficiency due to muscle weakness OMIM:617087
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Kyphosis, Ataxia, Clumsiness, Ankle clonus, Respiratory insufficiency, Knee... OMIM:211530
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Respiratory insufficiency, Scoliosis, Vocal cord paralysis ORPHA:640
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Pulmonary hypoplasia, Patent foramen ovale, Neonatal respiratory distress, Respiratory... OMIM:616867
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Hepatomegaly, Respiratory insufficiency, Myoclonus, Dilated cardiomyopathy, Death in infa... OMIM:614299
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia, Respiratory failure OMIM:618637
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly... ORPHA:2414
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis, Hepatitis OMIM:219400
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Hepatomegaly, Jaundice, Splenomegaly, Death in childhood, Re... OMIM:607625
Microphthalmia, Isolated 3
Anophthalmia, Sclerocornea, Microphthalmia OMIM:611038
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Short neck, Scoliosis, Neonatal death, Respiratory failure, Dystonia, Respiratory insuf... OMIM:611890
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Pulmonary hypoplasia, Intrauterine growth ret... OMIM:616733
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Acu... ORPHA:36238
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Scoliosis, Recurrent pneumonia, Dysphagia, Venti... ORPHA:254875
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Anophthalmia, Microphthalmia OMIM:221950
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... OMIM:619611
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Spasticity, Death in infancy, Hypertrophic cardiomyopathy, Resp... OMIM:616277
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... ORPHA:199241
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... OMIM:619751
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Myoclonus, Death in infancy, Spasticity, Dysphagia, Respiratory failure OMIM:225753
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Decreased liver function, Ataxia, Central sleep apnea, Hepatic steatos... ORPHA:70472
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Hepatomegaly, Cirrhosis, Myoclonus, Abnormal pyramid... ORPHA:363400
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... ORPHA:266
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial mor... OMIM:612387
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Short neck, Dyspnea, Respiratory failure ORPHA:1832
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Pulmonary hypoplasia, Neonatal death OMIM:224410
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatomegaly, Tetraplegia, Microvesicular hepatic steatosis, Recurrent r... OMIM:618278
Thanatophoric Dysplasia
Kyphosis, Intrauterine growth retardation, Atrial septal defect, Respiratory insufficiency, Platy... ORPHA:2655
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Respiratory failure, Neonatal death OMIM:301021
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:608647
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Upper limb spasticity, Lower limb spasticity OMIM:611225
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... ORPHA:454836
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Achondrogenesis Type 2
Unossified sacrum, Absent vertebral body mineralization, Pulmonary hypoplasia, Cardiorespiratory ... ORPHA:93296
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Rigidity, Neonatal death, Spasticity, Respiratory failure OMIM:610127
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal ... ORPHA:60025
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypertonia, Tremor, Death in infancy, Respiratory failure, Dystonia OMIM:617248
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Dyspnea OMIM:606183
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypertonia, Dystonia, Hepatic steatosis, Intrauterine growth retardation, C... ORPHA:26792
Brain-Lung-Thyroid Syndrome
Respiratory distress, Abnormal cardiac septum morphology, Ataxia, Chorea, Abnormal eating behavio... ORPHA:209905
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... ORPHA:91359
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Scoliosis, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Partial di... ORPHA:2847
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure OMIM:616081
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of the vertebral ... ORPHA:1354
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Intrauterine growth retardation, Right atrial enlargement, Anomalous pu... ORPHA:555874
Sandhoff Disease
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly, Recurrent respiratory infections ORPHA:796
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection, Crani... OMIM:620011
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Hypoplastic left atrium OMIM:615524
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxe... ORPHA:70578
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Hereditary Methemoglobinemia
Hypertonia, Cyanosis, Athetosis, Spasticity, Limb dystonia, Spastic tetraplegia, Exertional dyspnea ORPHA:621
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract, Microphthalmia OMIM:610092
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Pulmonary artery atresia, Ventricular septal d... ORPHA:1209
Minicore Myopathy With External Ophthalmoplegia
Respiratory insufficiency, Pulmonary hypoplasia, Recurrent respiratory infections, Scoliosis OMIM:255320
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Respiratory insufficiency, Platyspondyly, Thoracolumbar scoliosis, Respiratory failure OMIM:313420
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Hepatomegaly, Opisthotonus, Hepatic failure, Splenomegaly... OMIM:608013
Sinusitis, Apical pulmonary opacity, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis,... ORPHA:449280
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Hyperekplexia 4
Hypertonia, Kyphoscoliosis, Respiratory failure, Myoclonus OMIM:618011
Neuralgic Amyotrophy
Paresthesia, Respiratory insufficiency, Acrocyanosis ORPHA:2901
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Niemann-Pick Disease, Type B
Hepatomegaly, Diffuse reticular or finely nodular infiltrations, Splenomegaly, Abnormal pulmonary... OMIM:607616
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea,... OMIM:178500
Odontochondrodysplasia 1
Respiratory distress, Biconvex vertebral bodies, Platyspondyly, Scoliosis, Pulmonary hypoplasia, ... OMIM:184260
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Situs inversus totalis, Atelectasis, Recurrent bronchitis, Cil... OMIM:244400
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... ORPHA:98810
Cystic Echinococcosis
Asthma, Urticaria, Cholestatic liver disease, Hepatomegaly, Jaundice, Multiple pulmonary cysts, A... ORPHA:400
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Vertebral segmentation defect, Respiratory distress, Unossified sacrum, Tracheomalacia, Abnormal ... OMIM:608022
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminerg... ORPHA:240085
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Spinocerebellar Ataxia Type 1
Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Slurred speech, ... ORPHA:98755
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hy... ORPHA:365
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Tonne-Kalscheuer Syndrome
Tremor, Pulmonary hypoplasia, Spasticity, Dysphagia, Abnormal heart morphology OMIM:300978
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar pho... ORPHA:217563
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
Farber Disease
Respiratory distress, Paraparesis, Nodular pattern on pulmonary HRCT, Diffuse reticular or finely... ORPHA:333
Congenital Myasthenic Syndrome
Kyphoscoliosis, Episodic respiratory distress, Ataxia, Spinal rigidity, Respiratory arrest, Centr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Episodic respiratory distress, Ataxia, Spinal rigidity, Respiratory arrest, Centr... ORPHA:98914
Waardenburg Syndrome Type 3
Atrial septal defect, Tracheomalacia, Spastic paraplegia, Atelectasis, Acrocyanosis ORPHA:896
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Involuntary movements, Tongue fasciculations ORPHA:238329
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Pulmonary edema, Atrial septal defect, Nonproductive cough, C... ORPHA:980
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Scimitar Syndrome
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Frequent falls, Respiratory failure ORPHA:75840
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Scoliosis, Tetralogy of Fallot, Pulmonary ar... OMIM:618316
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Intention tremor, Myoclonus, Babinski sign, Scoliosis, Distal sens... OMIM:616505
Congenital Muscular Dystrophy With Intellectual Disability
Poor gross motor coordination, Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropat... ORPHA:370968
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dysphagia, Dyspnea, ... ORPHA:142
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Microp... ORPHA:231736
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Nipah Virus Disease
Respiratory distress, Myoclonus, Cough, Tremor, Recurrent pharyngitis ORPHA:99825
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy, Dilated cardiomyopathy, Dysphagia, Dys... ORPHA:352447
Porphyria, Acute Hepatic
Paresthesia, Paralysis, Respiratory paralysis OMIM:612740
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Frequent falls, Dilated cardiomy... OMIM:300718
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Ove... OMIM:617022
3-Methylglutaconic Aciduria Type 7
Hypertonia, Opisthotonus, Myoclonus, Abnormal pyramidal sign, Progressive extrapyramidal movement... ORPHA:445038
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respiratory failure, Intrauterine growth r... OMIM:609981
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Beaking of vertebral bodies, Kyphoscoliosis, Respiratory distress, Atlantoaxial disl... ORPHA:536467
Hypertonia, Decreased liver function, Pulmonary hypoplasia, Spastic tetraparesis, Dystonia, Cardi... ORPHA:79321
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Hypertonia, Episodic respiratory distress, Chronic p... ORPHA:1199
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Epis... OMIM:301790
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy, Abnormal heart morphology OMIM:241800
Hepatic Veno-Occlusive Disease
Hepatomegaly, Respiratory failure, Jaundice, Elevated hepatic transaminase ORPHA:890
Triosephosphate Isomerase Deficiency
Respiratory distress, Kyphosis, Cholelithiasis, Jaundice, Splenomegaly, Respiratory insufficiency... OMIM:615512
Atypical Rett Syndrome
Kyphosis, Episodic tachypnea, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wr... ORPHA:3095
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Kyphoscoliosis, Blepharospasm, Laryngeal dystonia, Dysdiadocho... ORPHA:98805
Leigh Syndrome
Hepatocellular necrosis, Ataxia, Respiratory insufficiency, Spasticity, Abnormal pattern of respi... OMIM:256000
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death, Widening of cervical spinal canal OMIM:253310
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Short neck, Stillbirth, Neonatal death OMIM:236500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Iris coloboma, Cataract, Macular atrophy OMIM:212550
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Ataxia, Dysmetria, Intention tremor, Head titubation, Dysphagia, Pulmonary hypoplasia, ... OMIM:619708
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive vent... ORPHA:98913
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Neonatal death, Pulmonary hypoplasia, Hepatic periportal necr... OMIM:231680
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Myocardial fibrosis, Abnormality of the hepatic vasculature, Hepatosplenomegaly, Crackles, Abnorm... ORPHA:210136
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:139471
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Scoliosis, Hyperlordosis, Recurrent lower respiratory tract infections... ORPHA:258
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Vocal cord paralysis, Congenital laryngeal stridor ORPHA:2375
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... ORPHA:2759
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Respiratory insufficiency, Bilateral lung agenesis, Neonatal ... OMIM:601612
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Ataxia, Dysmetria, Central hypoventilation, Dysphagia, Respiratory failure OMIM:618233
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Situs inversus totalis, Dextrocardia, Ciliary d... OMIM:606763
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Ataxia, Scoliosis, Tremor, Impaired pain sensation ORPHA:101075
Xeroderma Pigmentosum, Complementation Group G
Tremor, Cataract, Microphthalmia OMIM:278780
Thanatophoric Dysplasia, Type I
Platyspondyly, Short neck, Neonatal death, Severe platyspondyly, Pulmonary hypoplasia, Neonatal r... OMIM:187600
Pleoconial Myopathy With Salt Craving
Salt craving, Paralysis OMIM:262900
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Respiratory insufficiency, Pulmonary hypoplasia, Scoliosis ORPHA:994
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Ankle clonus, Babinski sign, Tetraparesis, Spasticity, Dysphagia, Fasciculations, Lower limb spas... OMIM:613954
Aphalangy With Hemivertebrae
Ventricular septal defect, Hemivertebrae, Pulmonary hypoplasia OMIM:207620
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Poor fine motor coordination, Hand tremor, Impaired vibratory sensation, Babinski sign, Scoliosis... ORPHA:99947
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Scoliosis, Cough, Atelectasis, Recurrent respiratory infections ORPHA:2314
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Respiratory insufficiency, Death in childhood, Elevated circulat... OMIM:245400
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor, Vocal cord paralysis OMIM:150260
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Short neck, Abnormal lung lobation, Pulmonary hypoplasia, Abnormal heart mor... OMIM:263210
Proximal Spinal Muscular Atrophy
Atrial septal defect, Recurrent infections due to aspiration, Scoliosis, Tongue fasciculations, R... ORPHA:70
Nephronophthisis-Like Nephropathy 2
Pulmonary infiltrates, Polydipsia, Cough, Bronchiectasis, Recurrent respiratory infections OMIM:619468
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, E... OMIM:619386
Hydrocephalus With Associated Malformations
Intrauterine growth retardation, Pulmonary hypoplasia OMIM:236640
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb dysm... OMIM:614409
Nephronophthisis 2
Situs inversus totalis, Respiratory insufficiency, Pulmonary hypoplasia, Respiratory failure OMIM:602088
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Aplasia/Hypoplasia of the lungs, Scoliosis, Recurrent respiratory infections ORPHA:1548
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Neonatal death, Ventricular septal defect, Respiratory failure, Truncu... OMIM:228940
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Opisthotonus, Spasticity, Respiratory failure, Death in infancy, Intrauterine growt... OMIM:610678
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Legionnaires Disease
Pulmonary infiltrates, Ataxia, Pancreatitis, Splenomegaly, Respiratory insufficiency, Endocarditi... ORPHA:549
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Splenomegaly, Respiratory insufficiency, Short neck, Neonatal ... OMIM:269860
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Re... ORPHA:308552
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Fasciculations, Respiratory failure, Tongue fasciculations OMIM:613435
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ventricular ... OMIM:608149
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Episodic Ataxia Type 1
Respiratory distress, Hypertonia, Kyphoscoliosis, Clumsiness, Poor coordination, Scoliosis, Chore... ORPHA:37612
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive cerebellar ataxia, Impaired vibratory sensation, Babinski sign,... ORPHA:2596
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short neck, Ventricular septal defect, Pulmonary hypoplasia, Pleural effusion, Hyp... OMIM:616897
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment ORPHA:190
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Neonatal death, Spastic tetraplegia, Hypertrophic cardiomyopathy, Intrauterine growth r... OMIM:618237
Hereditary Motor And Sensory Neuropathy, Type Iic
Scoliosis, Distal sensory impairment, Respiratory failure, Vocal cord paresis, Intercostal muscle... OMIM:606071
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Recurrent respiratory infections ORPHA:85288
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Ataxia, Lumbar hyperlordosis, Scoliosis, Lower limb spasticity, Dystonia OMIM:616756
Metatropic Dysplasia
Kyphosis, Kyphoscoliosis, Relatively short spine, Respiratory insufficiency, Platyspondyly, Scoli... OMIM:156530
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Hepatomegaly, Hepatic failure, Chorea, Tremor, Limb dystonia, Abnormal lung mo... ORPHA:646
Kyphosis, Decreased liver function, Scoliosis, Respiratory failure, Cardiomyopathy, Abnormal hear... ORPHA:79327
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickening, Multiple pulmona... ORPHA:79128
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microcornea, Cataract, Microphthalmia OMIM:610125
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Abnormal cervical curvature, Pulmonary hypoplasia, Vertebral fusion, Intrauter... OMIM:312150
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Situs inversus totalis, Pulm... OMIM:202650
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Pulmonary hypoplasia, Respiratory infections in early life, Neonatal respiratory dis... ORPHA:96179
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Ataxia, Scoliosis, Tremor, Impaired pain sensation ORPHA:101078
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Hypertonia, Chorea, Spastic tetraparesis, Dystonia ORPHA:79097
Benign Familial Infantile Epilepsy
Apnea, Cyanosis, Limb myoclonus, Hypertonia ORPHA:306
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Impaired vibratory sensation, Limb dystonia, Clonus, Impaired proprioception, Upper lim... ORPHA:319199
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Distal sensory impairment OMIM:613710
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy OMIM:604377
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Scoliosis, Elevated hepatic transaminase, Death in infancy, Neonatal respir... OMIM:615042
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Trisomy 13
Anophthalmia, Optic atrophy, Iris coloboma, Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Spasticity, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Lethal Congenital Contracture Syndrome Type 1
Short neck, Pulmonary hypoplasia, Abnormal form of the vertebral bodies ORPHA:1486
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Pancreatitis, Hepatomegaly, Chorea, Choreoathetosis... ORPHA:289916
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Walker-Warburg Syndrome
Corneal opacity, Retinal detachment, Anophthalmia, Microcornea, Optic atrophy, Iris coloboma, Cat... ORPHA:899
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Respiratory failure, Dystonia ORPHA:330021
Tetrasomy 5P
Respiratory distress, Cyanosis, Short neck, Pulmonary hypoplasia, Pulmonary arterial hypertension... ORPHA:3309
Lopes-Maciel-Rodan Syndrome
Kyphosis, Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Scoliosis, Tremor, Spa... OMIM:617435
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Dysphagia, Pulmonary hypoplasia, Patent foramen ovale, Neonatal re... OMIM:616866
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hypertonia, Opisthotonus, Death in childhood, Babinski sign, Cerebral palsy, Myoclonus, Clonus, S... OMIM:619847
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Abnormal cervical curvature, Pulmonary hypoplasia, Vertebral fusion, Intrauter... OMIM:253290
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... ORPHA:3392
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Poor fine motor coordination, Scoliosis, Distal sensory impairment... ORPHA:99948
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Erythema, Angioedema, Res... ORPHA:449285
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Pulmonary infiltrates, Hemiplegia/hemiparesis, Urticaria, Abnormal pericardium... ORPHA:183
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dysphagia, Paralysis, Dystonia, Athetosis OMIM:300857
Severe Congenital Nemaline Myopathy
Dysphagia, Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Shallow anterior chambe... ORPHA:91495
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity OMIM:610743
Anencephaly 2
Anophthalmia OMIM:619452
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Primum atrial septal defect, Right ventricular hyper... ORPHA:1329
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatic steatosis OMIM:615595
Meckel Syndrome 14
Single ventricle, Cyanosis, Short neck, Cardiorespiratory arrest, Pulmonary hypoplasia, Hepatic f... OMIM:619879
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Respiratory failure, Somatic sensory dysfunction ORPHA:71211
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Scolio... ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Arnold-Chiari Malformation Type Ii
Paraparesis, Apnea, Ataxia, Opisthotonus, Cyanosis, Paraplegia, Somatic sensory dysfunction, Spas... ORPHA:1136
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Pulmonary hypopla... OMIM:263200
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Abnormality of the vertebral column, Respiratory failure, Abnormal ver... OMIM:276950
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstiti... OMIM:614742
Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Atelectasis, Restrictive ventilatory... ORPHA:538
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Scoliosis, Fasciculations, Respiratory insufficiency due to muscle weakness... ORPHA:1143
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Anomalous origin of left pulmonary artery from asce... ORPHA:99050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hepatomegaly, Splenomegaly, Choreoathetosis, Dystonia, Cardio... ORPHA:79312
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Whim Syndrome
Sinusitis, Poor fine motor coordination, Limb ataxia, Recurrent upper respiratory tract infection... ORPHA:51636
Gaucher Disease, Type I
Pulmonary infiltrates, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Abnormal pulmonary inte... OMIM:230800
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory insufficiency, Respiratory failure, Spastic tetraplegia OMIM:615330
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Respiratory insufficiency, Short neck, Anisospondyly, Pulmonary hypoplasia, Abnormal... ORPHA:1865
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus, Hypertonia OMIM:250800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Babinski sign, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Fasciculations... OMIM:615290
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Decreased liver function, Ataxia, Hepatomegaly, Death in childhood, Truncal... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Lethal Congenital Contracture Syndrome 7
Paralysis, Oral-pharyngeal dysphagia OMIM:616286
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Cyanosis, Cough, Hypox... ORPHA:2038
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis, Myocardial eosinophilic infiltration OMIM:131400
Bickerstaff Brainstem Encephalitis
Ataxia, Sensory ataxia, Babinski sign, Hypercapnia, Abnormal pyramidal sign, Facial paralysis, Re... ORPHA:79138
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Nonproductive cough, Crackles, Fulminant hepatitis, Myocard... ORPHA:319213
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis, Dysphagia, Dyspnea, Respiratory insufficiency... ORPHA:230800
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Marden-Walker Syndrome
Kyphosis, Short neck, Scoliosis, Dextrocardia, Pulmonary hypoplasia, Intrauterine growth retardation OMIM:248700
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Ataxia, Hypertonia, Decreased liver function, Pulmonic stenosis, Cen... ORPHA:70474
Variegate Porphyria
Cutaneous photosensitivity, Paralysis OMIM:176200
Combined Oxidative Phosphorylation Deficiency 3
Intrauterine growth retardation, Ataxia, Hepatomegaly, Concentric hypertrophic cardiomyopathy, De... OMIM:610505
Myasthenic Syndrome, Congenital, 25, Presynaptic
Dysphagia, Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Scoliosis, Respiratory failure requiring assisted ventilatio... ORPHA:496641
Hsd10 Disease, Infantile Type
Poor coordination, Spastic diplegia, Cyanosis, Hyperkinetic movements, Choreoathetosis, Spastic t... ORPHA:391428
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Scoliosis, Abnormality of... ORPHA:48431
Pelizaeus-Merzbacher Disease
Kyphosis, Ataxia, Respiratory insufficiency, Scoliosis, Choreoathetosis, Spasticity, Dystonia, Re... ORPHA:702
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Intrauterine growth retardation, Hepatomegaly, Abnormal aort... ORPHA:1194
Parastremmatic Dwarfism
Kyphosis, Short neck, Scoliosis OMIM:168400
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Aspiration,... OMIM:272750
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Scoliosis OMIM:300934
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... ORPHA:40
Sialidosis Type 2
Kyphosis, Ataxia, Hepatomegaly, Splenomegaly, Tremor, Dyspnea ORPHA:87876
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Hepatomegaly, Splenomegaly, Tremor, Elevated hepatic transaminase, ... OMIM:608799
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea OMIM:269400
Truncus Arteriosus
Pulmonary edema, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Cyanosis... ORPHA:3384
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Scoliosis, Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal ... OMIM:619574
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis, Stereotypical hand wringing, Abnormal respiratory system physiology, Impaire... ORPHA:505652
Combined Oxidative Phosphorylation Defect Type 23