Gene Summary

Name:
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Synonyms:
SERCA1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Atp2a1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Atp2a1 mutations

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

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

The table below shows human diseases associated to Atp2a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brody Myopathy
OMIM:601003

The table below shows human diseases predicted to be associated to Atp2a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Myotonia of the face, Neonatal inspiratory stridor, Percussion myot... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia... OMIM:160800
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system physiology, Increased... ORPHA:266
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency, Distal arth... OMIM:208081
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Neonatal death, Multiple joint con... OMIM:611369
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Muscle hypertrophy of the lower extremities, EM... OMIM:255700
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myotonia, Inspiratory stridor, Paradox... OMIM:168300
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology, Percussion-induced rapid rollin... OMIM:606072
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Respiratory insufficiency, Myotonia, Proximal muscle weakness in lower limbs... OMIM:310440
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Laryngospasm, Myotonia, Apneic episodes in infancy, Stridor OMIM:608390
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... ORPHA:34516
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Myopathy Due To Myoadenylate Deaminase Deficiency
Increased muscle fatiguability, Myopathy, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Handgrip myotonia, Torticollis, Aut... ORPHA:97240
Myotonia Fluctuans
Apnea, Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the upper... ORPHA:99734
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Increased mus... OMIM:123320
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Muscular Dystrophy, Barnes Type
Myotonia, Muscular dystrophy, Myopathy OMIM:158800
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Intrinsic hand muscle atrophy, Peroneal muscle atrophy, Handgrip myotoni... ORPHA:324442
Nemaline Myopathy 8
Flexion contracture, Death in infancy, Nemaline bodies, Facial palsy, Respiratory failure, Myofib... OMIM:615348
Pontocerebellar Hypoplasia, Type 1C
Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure, Ske... OMIM:616081
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory failure OMIM:613869
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:137200
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Restrictive ventilatory defect, Exertional dyspnea, Hip flexor weak... ORPHA:98913
Myotonia Permanens
Dyspnea, Skeletal muscle hypertrophy, Myotonia, Asthma, Generalized muscle hypertrophy ORPHA:99735
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... ORPHA:681
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, A... ORPHA:90117
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelvic girdle muscle wea... OMIM:603689
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging, Respiratory insufficiency ORPHA:2901
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Flexion contracture, Death in infancy, Respiratory insufficiency, My... ORPHA:682
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia, Left ventricula... OMIM:619040
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Stormorken Syndrome
Increased muscle fatiguability, Myopathy, Epistaxis, Prominent nose OMIM:185070
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Death in infancy, Neonatal death, Nemaline bodies, Death in c... OMIM:619334
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, Restrictive ventilator... ORPHA:369847
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy OMIM:613077
Acetazolamide-Responsive Myotonia
Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Respiratory distress, Ventilator dependence with inability to wean, Resp... ORPHA:254875
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Skeletal muscle hypertrophy, Handgrip myotonia, Myotonia of the upper limb... ORPHA:3101
Myotonic Myopathy With Cylindrical Spirals
Percussion myotonia OMIM:160990
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Thomsen And Becker Disease
Myotonia ORPHA:614
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Episodic Ataxia Type 1
Myotonia, Calf muscle hypertrophy, Respiratory distress ORPHA:37612
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:2364
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, ... ORPHA:370968
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Scapular winging, Increased intramyocellular lipid droplets, Card... ORPHA:26791
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Knee flexion contracture, Hip ... OMIM:313420
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Pure Mitochondrial Myopathy
Scapular winging, Proximal amyotrophy, Quadriceps muscle weakness, Exercise-induced muscle fatigu... ORPHA:254854
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:618291
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Abnormal respiratory system physiology, Internally... ORPHA:98905
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle weakness, Neonatal de... OMIM:611890
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Abnormal breath sound, Apnea, Restrictive ventilatory defect, ... ORPHA:2257
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Xp21 Deletion Syndrome
Decreased muscle mass, Increased muscle fatiguability, Apneic episodes in infancy, Calf muscle hy... ORPHA:261476
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Respiratory distress ORPHA:91130
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Neonatal respir... OMIM:616867
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory insufficiency,... OMIM:300717
Myotonic Dystrophy 1
Myotonia, Facial diplegia, Respiratory distress OMIM:160900
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia, Skeletal muscle atrophy ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Congenital Muscular Dystrophy, Ullrich Type
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomysial connective t... ORPHA:75840
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:713
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Flexion contracture of toe, Respiratory... OMIM:601559
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Spastic Paraplegia 79, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Myotonic Dystrophy 2
Myotonia, Type 2 muscle fiber atrophy OMIM:602668
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle hypertrophy, Flexion contracture of toe, Myotonia, Wrist flexion contracture, Ske... OMIM:255800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia, Prominent nose ORPHA:391307
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia, Aplasia/H... ORPHA:2140
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Lower limb muscle weakness, Respiratory insu... ORPHA:2590
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Ventilator dependence with inability to wean, I... OMIM:604320
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Generalized amyotrophy, Respiratory fa... ORPHA:352447
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Facial diplegia, Hypoventilation, Flexion contracture, Quadriceps... ORPHA:70
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Achalasia, Skeletal muscle atrophy OMIM:252320
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Exercise-induced muscle fatigue, Recurrent respiratory infecti... ORPHA:1330
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Type 1 muscle fiber predominance, Nemali... ORPHA:171430
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Intercostal muscle weakness, Hand muscle atrophy, Distal amyotrop... OMIM:606071
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Schwartz-Jampel Syndrome
Apnea, Arthrogryposis multiplex congenita, Skeletal muscle hypertrophy, Flexion contracture of to... ORPHA:800
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Respiratory distress, Underdeveloped nasal alae, Handgrip myotonia, Wide nasal ... ORPHA:438216
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Congenital Myasthenic Syndrome
EMG: myopathic abnormalities, Respiratory arrest, Arthrogryposis multiplex congenita, Stridor, Su... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Respiratory arrest, Arthrogryposis multiplex congenita, Stridor, Su... ORPHA:98914
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance, Z-band streamin... OMIM:605355
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Breath-Holding Spells
Cyanosis OMIM:607578
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Snakebite Envenomation
Rhabdomyolysis, Epistaxis, Erythema, Respiratory paralysis, Respiratory failure, Muscle fiber nec... ORPHA:449285
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Right ventricular hypertrophy, Left ventricular hypertrophy, Paroxysmal dysp... ORPHA:444013
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Diaphragmatic eventratio... OMIM:310400
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Flexion contracture, Respiratory insufficiency, Respiratory ... OMIM:310200
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Cough, Absent outer dynein arms, Nasal polyposis, Recurrent r... OMIM:616037
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Exercise-induced muscle fatigue, Rhinitis ORPHA:230
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Laryngospasm, Respiratory failure, Skeletal musc... ORPHA:803
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... ORPHA:79102
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cutaneous photosensitivity, Retinal telangiectasia, Congenital diaphragmatic hernia, Telangiectas... ORPHA:438134
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure ORPHA:363400
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Respiratory insufficie... ORPHA:183
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Right vent... ORPHA:555874
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Tracheomalacia, Atelectasis, Narrow nasal bridge ORPHA:896
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Broad nasal tip, Wide nasal bridge, Congenital diaphragmatic hernia OMIM:615524
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Aspiration, Congenital muscular dystrophy, Muscular dystrophy, Abs... ORPHA:258
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Steinert Myotonic Dystrophy
Handgrip myotonia, Myotonia of the upper limb, Respiratory failure requiring assisted ventilation... ORPHA:273
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Hypercapnia, Flexion contracture, Wea... ORPHA:2020
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Flexion contracture, Distal amyotrophy, Respiratory failure, Anteverted nares OMIM:616505
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Skeletal muscle atrophy OMIM:607598
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Facial hypotonia, Respiratory distress, Respiratory fa... ORPHA:308552
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... ORPHA:141127
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Buerger Disease
Acrocyanosis ORPHA:36258
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Respiratory failure, Flexion contracture, Death in infancy ORPHA:1194
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Spinocerebellar Ataxia Type 1
Respiratory failure, Abnormality of masticatory muscle, Skeletal muscle atrophy ORPHA:98755
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Respiratory insufficiency, Congenital diaphragmatic hernia ORPHA:1166
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Aplasia of the left hemidiaphragm, Neonatal respiratory distress, Pulmon... ORPHA:2847
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary arterial hyp... ORPHA:3309
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibro... ORPHA:420741
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Knee flexion contracture, Limb joint contracture, Ankle flexion contracture, De... ORPHA:284417
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility, Recurrent respiratory infections ORPHA:3226
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Respiratory failure, Respiratory in... OMIM:613845
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis, Limb muscle weakness OMIM:207950
Nephronophthisis 2
Pulmonary hypoplasia, Respiratory failure, Respiratory insufficiency OMIM:602088
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Goodpasture Syndrome
Ground-glass opacification, Restrictive ventilatory defect, Pulmonary hemorrhage, Reticular patte... OMIM:233450
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory failure, Hip contract... OMIM:617301
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Laryng... ORPHA:280210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Bulbous nose, Increased muscle lipid content, Respiratory insufficie... OMIM:608836
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Anteverted nares, Abnormality of the diaphragm, Congenital diaphragmatic he... OMIM:601163
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Left ventricular hypertrop... ORPHA:563
Lipodystrophy, Congenital Generalized, Type 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Muscle mounding OMIM:613327
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema ORPHA:3165
Poliomyelitis
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Hypoplasia of the... ORPHA:2912
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Left ventricular hypertrophy, Hemoptys... ORPHA:99106
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger, Prominent nose OMIM:614407
Sandestig-Stefanova Syndrome
Camptodactyly, Respiratory failure, Wide nasal bridge OMIM:618804
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Death in infancy, Respiratory insufficiency, Aplasia/Hypoplasi... ORPHA:1120
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Sleep apnea, Facial hypotonia, Respiratory distress, ... ORPHA:365
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Right vent... ORPHA:1329
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Pulmonary edema, Myopathy OMIM:261740
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia, Hand muscle atrophy, Cyanosis, Upper limb muscle weakness ORPHA:1136
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Lower limb muscle weakness, Respiratory insufficiency, Skeletal myopathy, Respira... ORPHA:746
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous hemorrhage, Cyanosis, B... ORPHA:335
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, De... OMIM:266910
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Prominent nasal bridge,... OMIM:300978
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia OMIM:612530
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Congenital diaphragmatic hernia ORPHA:380
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Rhabdomyolysis, Death in childhood, Respiratory insufficiency OMIM:610505
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Arthrogryposis multiplex congenita, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:496641
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent sinopulmonary infections, Prominent nose, Respiratory failure, Rha... ORPHA:647
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteverted nares, Respiratory insufficiency, Congenital diaphragmatic he... ORPHA:1488
Dermatomyositis
Acrocyanosis, Pulmonary fibrosis, Diffuse reticular or finely nodular infiltrations, Respiratory ... ORPHA:221
Infantile Krabbe Disease
Shoulder girdle muscle weakness, Respiratory failure, Respiratory distress, Laryngomalacia ORPHA:206436
Nocardiosis
Abnormal sputum, Dyspnea, Respiratory distress, Pleuritis, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Cebalid Syndrome
Depressed nasal bridge, Short nose, Anteverted nares, Congenital diaphragmatic hernia OMIM:618774
Ethylene Glycol Poisoning
Episodic respiratory distress, Facial palsy, Pulmonary edema, Abnormal pattern of respiration, Ta... ORPHA:31826
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Respiratory failure, Respiratory insufficiency OMIM:607625
13Q12.3 Microdeletion Syndrome
Underdeveloped nasal alae, Camptodactyly, Congenital diaphragmatic hernia, Obstructive sleep apne... ORPHA:412035
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Depressed nasal bridge, Congenital diaphragmatic hernia, Promine... OMIM:301022
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Short nose,... ORPHA:3342
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Wide nasal bridge ORPHA:3304
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic he... OMIM:263210
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Congenital Heart Defects And Skeletal Malformations Syndrome
Short nose, Camptodactyly, Cutis marmorata, Congenital diaphragmatic hernia, Long nose, Pneumotho... OMIM:617602
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure, Telangiectasia of the skin ORPHA:679
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Lethal Acantholytic Erosive Disorder
Fragile skin, Respiratory failure, Camptodactyly of toe ORPHA:158687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Respiratory failure OMIM:616538
Dravet Syndrome
Cyanotic episode ORPHA:33069
Myasthenia Gravis
Acrocyanosis, Myositis, Dyspnea ORPHA:589
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Respiratory failure ORPHA:88618
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Decreased muscle mass ORPHA:349
Bloom Syndrome
Respiratory tract infection, Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhini... ORPHA:125
Leigh Syndrome
Multiple joint contractures, Respiratory failure, Skeletal muscle atrophy, Abnormal pattern of re... ORPHA:506
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Craniofrontonasal Dysplasia
Camptodactyly of finger, Midline defect of the nose, Wide nasal bridge, Congenital diaphragmatic ... ORPHA:1520
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Broad nasal tip... ORPHA:250999
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Pulmonary arterial hypertens... OMIM:187300
Donnai-Barrow Syndrome
Depressed nasal bridge, Short nose, Congenital diaphragmatic hernia ORPHA:2143
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia ORPHA:2063
Xp22.13P22.2 Duplication Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia ORPHA:284180
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Respiratory failure, Abnormal mitochondria in muscle tissue, Skeletal ... OMIM:252010
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Rare Circulatory System Disease
Cyanosis, Elbow flexion contracture ORPHA:98028
Schisis Association
Tracheoesophageal fistula, Congenital diaphragmatic hernia ORPHA:63862
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Pulmo... ORPHA:3384
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent infections due to aspiration OMIM:223900
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Anomalous pulmonary venous return, Respiratory insufficiency, Congenital... ORPHA:2311
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Anteverted nares, Recurrent upper respiratory tract in... ORPHA:293987
Tarp Syndrome
Apnea, Wide nasal bridge, Pulmonary hypoplasia, Cyanosis, Anteverted nares ORPHA:2886
Serkal Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Microphthalmia, Syndromic 9
Diaphragmatic eventration, Respiratory insufficiency, Wide nasal bridge, Pulmonary hypoplasia, Bi... OMIM:601186
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Pulmonary arteriovenous malformation, S... OMIM:610655
Histiocytoid Cardiomyopathy
Cough, Laryngeal web, Pulmonary edema, Tachypnea, Cyanosis ORPHA:137675
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Jaundice, Aspiration pneumonia, Respiratory ... ORPHA:646
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Fragile skin, Respiratory failure, ... ORPHA:79404
Short Rib-Polydactyly Syndrome
Abnormal larynx morphology, Abnormal epiglottis morphology, Respiratory failure, Depressed nasal ... ORPHA:1505
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Myhre Syndrome
Skeletal muscle hypertrophy, Camptodactyly, Laryngotracheal stenosis, Respiratory insufficiency, ... OMIM:139210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Developmental Delay With Or Without Dysmorphic Facies And Autism
Bulbous nose, Laryngotracheomalacia, Anteverted nares, Short nose, Wide nasal bridge, Depressed n... OMIM:618454
Seckel Syndrome 9
Pulmonary artery hypoplasia, Recurrent respiratory infections, Asthma, Congenital diaphragmatic h... OMIM:616777
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Recurrent respiratory infections ORPHA:1764
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections, Congenital diaphragmatic hernia OMIM:219100
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Erythema, Wide nasal bridge, Respiratory failure, Congenital diaph... ORPHA:2556
Listeriosis
Respiratory distress, Rhabdomyolysis, Pneumonia, Jaundice, Respiratory failure ORPHA:533
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Tracheomalacia, Laryngomalacia, Congenital diaphragmatic hernia, Antev... ORPHA:1001
Costello Syndrome
Macroglossia, Anteverted nares, Respiratory insufficiency, Tracheomalacia, Achilles tendon contra... OMIM:218040
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hyp... OMIM:616749
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Flexion contracture of thumb, Diastasis recti, Restrictive ventilatory defect, Camp... ORPHA:96334
Emanuel Syndrome
Cough, Multiple joint contractures, Recurrent respiratory infections, Congenital diaphragmatic he... ORPHA:96170
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Abnormal pattern of respiration, Prominent nasal bridge, Anteverted na... ORPHA:2896
Donnai-Barrow Syndrome
Short nose, Diaphragmatic eventration, Congenital diaphragmatic hernia, Broad nasal tip, Depresse... OMIM:222448
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Tuberous Sclerosis Complex
Respiratory tract infection, Generalized abnormality of skin, Respiratory distress, Respiratory f... ORPHA:805
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Emanuel Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia OMIM:609029
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Pulmonary arte... OMIM:600376
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Respiratory failure ORPHA:14
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula, Congenital diaphragmatic hernia ORPHA:1834
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Jaundice, Pulmonary hypoplasia, Respiratory failure, R... ORPHA:731
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenosis, Congenital diaphragmati... OMIM:611812
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Fetal Alcohol Syndrome
Anteverted nares, Short nose, Congenital diaphragmatic hernia ORPHA:1915
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Short nose, Congenital diaphragmatic hernia ORPHA:2409
Arterial Tortuosity Syndrome
Flexion contracture, Telangiectases of the cheeks, Pulmonary artery stenosis, Congenital diaphrag... OMIM:208050
Diamond-Blackfan Anemia 10
Choanal atresia, Respiratory distress, Congenital diaphragmatic hernia OMIM:613309
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Flexion contracture, Death in childhood, Aspiration, Congenital diaphragmatic hernia OMIM:618651
Trisomy 1Q
Camptodactyly of finger, Depressed nasal bridge, Wide nose, Congenital diaphragmatic hernia ORPHA:261344
15Q24 Microdeletion Syndrome
Prominent nasal bridge, Depressed nasal bridge, Congenital diaphragmatic hernia ORPHA:94065
Vacterl/Vater Association
Laryngomalacia, Aplasia/Hypoplasia of the lungs, Congenital diaphragmatic hernia, Tracheal stenos... ORPHA:887
Ear-Patella-Short Stature Syndrome
Dyspnea, Camptodactyly of finger, Respiratory failure, Respiratory distress ORPHA:2554
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Multiple Pterygium Syndrome, Escobar Variant
Arthrogryposis multiplex congenita, Camptodactyly of toe, Diaphragmatic eventration, Bilateral ca... OMIM:265000
Intellectual Disability-Strabismus Syndrome
Short nose, Congenital finger flexion contractures, Achilles tendon contracture, Prominent nose, ... ORPHA:363528
Mosaic Trisomy 1
Camptodactyly of finger, Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hernia... ORPHA:1692
8P23.1 Microdeletion Syndrome
Short nose, Wide nasal bridge, Pulmonary artery stenosis, Congenital diaphragmatic hernia, Promin... ORPHA:251071
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Tracheoesophageal fistula, Congenital diaphragmatic... ORPHA:958
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Telangiectasia of the skin, Erythema, Aplasia/Hypoplasi... ORPHA:2092
Genitopalatocardiac Syndrome
Wide nasal bridge, Congenital diaphragmatic hernia ORPHA:2075
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Aort... ORPHA:97214
White-Sutton Syndrome
Facial hypotonia, Congenital diaphragmatic hernia, Broad nasal tip, Obstructive sleep apnea, Depr... ORPHA:468678
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Anteverted nares, Bulbous nose, Congenital diaphragmatic hernia ORPHA:1780
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Bulbous nose, Respiratory failure, Long nose, Prominent nose ORPHA:2636
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the lungs, Cong... ORPHA:3097
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Short nose, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Anteverted nares, Depressed na... OMIM:614080
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Multiple joint contractures, Cutis marmorata, Myositis ORPHA:51
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Mycophenolate Mofetil Embryopathy
Bifid nose, Tracheoesophageal fistula, Tracheomalacia, Congenital diaphragmatic hernia ORPHA:268249
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth, Laryngeal hypoplasia, Tracheal stenosis, Midline defect of... OMIM:236680
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Congenital diaphragmatic her... ORPHA:991
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
7Q11.23 Microduplication Syndrome
Broad nasal tip, Cutis marmorata, Tracheomalacia, Congenital diaphragmatic hernia ORPHA:96121
Fryns Syndrome
Pulmonary hypoplasia, Anteverted nares, Wide nasal bridge, Congenital diaphragmatic hernia ORPHA:2059
Ulbright-Hodes Syndrome
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, Depressed nasal br... ORPHA:3404
Holoprosencephaly
Choanal atresia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Congenital diaphragm... ORPHA:2162