Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Agenesis of corpus callosum, Bronchiectasis |
OMIM:619466 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dime... |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:600901 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615524 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:227650 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... |
OMIM:610921 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Hyperoxemia, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia, Paucity of anterior horn motor neurons |
OMIM:253310 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Prolonged G2 phase of cell cycle, Chro... |
OMIM:227645 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Pulmonary hypoplasia, Neonatal death, Multinucleated neuron, Hydranencephaly |
OMIM:236500 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Hypoxemia, Honeycomb l... |
ORPHA:79127 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Pleural effu... |
OMIM:612387 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia, Death in infancy |
OMIM:241800 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:617468 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:202650 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... |
ORPHA:60033 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Recurrent bronchitis |
OMIM:604571 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Trichothiodystrophy |
|
Recurrent bronchopulmonary infections, Partial agenesis of the corpus callosum, Defective DNA rep... |
ORPHA:33364 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia |
ORPHA:2140 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia |
OMIM:256050 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Cyanosis, Desquamative interstitial pneumonitis, Intraalveolar phospholipid acc... |
OMIM:265120 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Pneumothorax, Hypoxemia, Abnormal pulmonary artery mo... |
ORPHA:2257 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:2655 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:187600 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage, Death in adolescence |
OMIM:610965 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:224410 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Hydrocephalus, Pulmonary hypoplasia |
OMIM:314390 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia |
ORPHA:79321 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:250999 |
Achondrogenesis Type 2 |
|
Pulmonary hypoplasia |
ORPHA:93296 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Partial agenesis of the corpus callosum, Pulmonary hypoplasia |
ORPHA:86822 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia |
OMIM:300978 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Odontochondrodysplasia 1 |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Hydrocephalus, Cyanosis, Pulmonary hypoplasia |
ORPHA:3309 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Pulmonary hypoplasia, Spina bifida occulta |
ORPHA:2437 |
Marden-Walker Syndrome |
|
Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:248700 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia |
ORPHA:3035 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:618316 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Miscarriage, Pulmonary hypoplasia |
ORPHA:1865 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Pulmonary hypoplasia, Neonatal death |
OMIM:251230 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Pulmonary hypoplasia, Holoprosencephaly |
OMIM:619879 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia |
OMIM:612284 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration |
ORPHA:2847 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Anencephaly, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:619148 |
De Sanctis-Cacchione Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Holoprosencephaly, Neonatal death |
OMIM:269860 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Pulmonary hypoplasia |
OMIM:616897 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia, Holoprosencephaly |
OMIM:612530 |
Mosaic Trisomy 1 |
|
Pulmonary artery atresia, Lateral ventricle dilatation, Agenesis of corpus callosum, Pulmonary hy... |
ORPHA:1692 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Pulmonary hypoplasia |
ORPHA:85201 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:231680 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:617895 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:151210 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Serkal Syndrome |
|
Pulmonary hypoplasia |
ORPHA:139466 |
Achondroplasia |
|
Death in infancy, Hydrocephalus, Pulmonary hypoplasia |
OMIM:100800 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Pentalogy Of Cantrell |
|
Encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
ORPHA:1335 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Pulmonary h... |
OMIM:601186 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Distal Triplication 15Q |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:314588 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia |
ORPHA:171430 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Miscarriage, Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia |
ORPHA:994 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... |
OMIM:613177 |
Congenital Tracheomalacia |
|
Cyanosis, Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Rec... |
ORPHA:95430 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Raine Syndrome |
|
Neonatal death, Death in infancy, Hydrocephalus, Pulmonary hypoplasia |
OMIM:259775 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Pulmonary hypoplasia |
OMIM:616866 |
Fryns Syndrome |
|
Agenesis of corpus callosum, Pulmonary hypoplasia |
ORPHA:2059 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:313850 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:2470 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Scimitar Syndrome |
|
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... |
ORPHA:185 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Spina bifida, Meningocele, Pulmonary artery hypoplasia, Pulmonar... |
ORPHA:991 |
Gaucher Disease, Perinatal Lethal |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:608013 |
Kagami-Ogata Syndrome |
|
Pulmonary hypoplasia |
OMIM:608149 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Pulmonary hypoplasia, Spina bifida |
ORPHA:3412 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis |
OMIM:619708 |
Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:145420 |
Diaphanospondylodysostosis |
|
Pulmonary hypoplasia |
OMIM:608022 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:958 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Occipital meningocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:614091 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
Achondrogenesis, Type Ia |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:200600 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:263200 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Myelomeningocele, Pulmonary hypoplasia, Hydrocephalus |
ORPHA:90652 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Hydrocephalus, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Caudal Regression Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3027 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Pulmonary hypoplasia |
OMIM:263520 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Pulmonary hypoplasia |
ORPHA:2990 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Pulmonary hypoplasia, Death in childhood |
OMIM:214100 |
Atelosteogenesis Type I |
|
Pulmonary hypoplasia |
ORPHA:1190 |
Neu-Laxova Syndrome |
|
Pulmonary hypoplasia, Spina bifida |
ORPHA:2671 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Fryns Syndrome |
|
Chylothorax, Stillbirth, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:229850 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Recurrent pneumonia, Bronchiectasis, Pulmonary hypopl... |
ORPHA:980 |
Lethal Congenital Contracture Syndrome 10 |
|
Pulmonary hypoplasia |
OMIM:617022 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Stillbirth, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Agenesis of corp... |
OMIM:256520 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia |
OMIM:601559 |
Greenberg Dysplasia |
|
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:215140 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Abnormal lung lobation,... |
OMIM:270400 |
Acrocephalopolydactylous Dysplasia |
|
Pulmonary hypoplasia, Extrapulmonary sequestrum |
OMIM:200995 |
Congenital Myopathy 22B, Severe Fetal |
|
Pleural effusion, Pulmonary hypoplasia |
OMIM:620369 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:208540 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Bronchitis |
ORPHA:1199 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Pulmonary hypoplasia |
ORPHA:2260 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Agenesis of corpus cal... |
OMIM:249000 |
Tarp Syndrome |
|
Cyanosis, Pulmonary hypoplasia |
ORPHA:2886 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Pulmonary hypoplasia |
OMIM:614080 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:308050 |
Atelosteogenesis Type Ii |
|
Pulmonary hypoplasia |
ORPHA:56304 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:617925 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia |
OMIM:615636 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia |
ORPHA:1848 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia |
OMIM:273395 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Hydrocephalus, Pneumothorax, Pulmonary hypoplasia, Neonatal death, Recurrent as... |
OMIM:612289 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Stillbirth, Pulmonary hypoplasia |
OMIM:208150 |
Renal Agenesis |
|
Pulmonary hypoplasia |
ORPHA:411709 |
Alg9-Cdg |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:79328 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Holoprosencephaly |
ORPHA:818 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Pulmonary hypoplasia |
OMIM:265000 |
Mosaic Trisomy 16 |
|
Abnormal lung morphology, Pulmonary hypoplasia |
ORPHA:1708 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Pulmonary hypoplasia |
ORPHA:536471 |
Meier-Gorlin Syndrome 7 |
|
Pulmonary hypoplasia |
OMIM:617063 |
Blomstrand Lethal Chondrodysplasia |
|
Pulmonary hypoplasia |
ORPHA:50945 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Pulmonary hypoplasia |
OMIM:271520 |
Ogden Syndrome |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Peripheral pulmonary artery stenosis, Pulmonary ... |
OMIM:300855 |
Fraser Syndrome 1 |
|
Encephalocele, Myelomeningocele, Pulmonary hypoplasia, Hydrocephalus |
OMIM:219000 |
Acrorenal-Mandibular Syndrome |
|
Pulmonary hypoplasia |
OMIM:200980 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Pulmonary hypoplasia |
OMIM:619351 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Myelomeningocele, Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2052 |
Schinzel-Giedion Syndrome |
|
Neural tube defect, Recurrent pneumonia, Pulmonary hypoplasia |
ORPHA:798 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary artery stenosis, Miscarriage, Pulmonary hypoplasia, Spinal dysraphism |
ORPHA:96334 |
Restrictive Dermopathy 1 |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:275210 |
Orofaciodigital Syndrome Type 4 |
|
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia |
ORPHA:2753 |
Osteogenesis Imperfecta |
|
Hydrocephalus, Pulmonary hypoplasia, Noncommunicating hydrocephalus |
ORPHA:666 |
Genitopatellar Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:606170 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window |
OMIM:620025 |
Lethal Congenital Contracture Syndrome 9 |
|
Pulmonary hypoplasia |
OMIM:616503 |
Mckusick-Kaufman Syndrome |
|
Pulmonary hypoplasia |
OMIM:236700 |
Distal Deletion 15Q |
|
Pulmonary hypoplasia |
ORPHA:1596 |
Dpagt1-Cdg |
|
Pulmonary hypoplasia |
ORPHA:86309 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia |
ORPHA:731 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:1112 |
Tetrasomy 9P |
|
Hydrocephalus, Pulmonary hypoplasia |
ORPHA:3310 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Agenesis of corpus callosum, Pulmonary hypoplasia |
ORPHA:93271 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pulmonary hypoplasia |
ORPHA:83617 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Recurrent respiratory infections, Cyanosis, Pulmonary artery stenosis, Supracardiac total anomalo... |
ORPHA:99125 |
Penile Agenesis |
|
Bilateral lung agenesis, Pulmonary hypoplasia |
ORPHA:49 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia |
OMIM:618280 |
Restrictive Dermopathy |
|
Pulmonary hypoplasia |
ORPHA:1662 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Pulmonary hypoplasia |
OMIM:164210 |
Ulbright-Hodes Syndrome |
|
Pneumothorax, Pulmonary hypoplasia |
ORPHA:3404 |
Pallister-Killian Syndrome |
|
Stillbirth, Pulmonary hypoplasia |
OMIM:601803 |
Microphthalmia, Syndromic 1 |
|
Pulmonary hypoplasia |
OMIM:309800 |