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Gene: Clip3 MGI:1923936

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
CAP-GLY domain containing linker protein 3
Synonyms:
1500005P14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Clip3 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 Clip3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... OMIM:611369
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... ORPHA:90117
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... ORPHA:98913
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... OMIM:614399
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Perching Syndrome
Respiratory distress, Joint contracture, Cyanosis, Camptodactyly OMIM:617055
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171433
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Weakness of facial musculat... OMIM:620265
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia OMIM:619057
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due... ORPHA:2590
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Respiratory insufficiency due to muscle ... OMIM:616165
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Cyanosis ORPHA:91130
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior ho... ORPHA:2254
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia, Acrocyanosis ORPHA:2400
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... OMIM:616867
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Hyperekplexia 4
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly OMIM:618011
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Respiratory insufficien... OMIM:245400
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... OMIM:618186
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... ORPHA:803
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachyp... ORPHA:2257
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:615330
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... OMIM:614299
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... OMIM:615512
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle f... OMIM:620278
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, A... ORPHA:98755
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Cervical myelopathy, Syringomyelia, Limb muscle weakness, Inspiratory str... OMIM:207950
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Leigh Syndrome
Respiratory failure, Optic atrophy, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Musc... ORPHA:449285
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Optic atrophy, Apnea OMIM:618233
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right v... ORPHA:444013
Breath-Holding Spells
Cyanosis OMIM:607578
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Congenital Diaphragmatic Hernia
Hypoxemia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Congenital diaphragmatic he... ORPHA:2140
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Distal amyotrophy, Respiratory failure, Flexion contracture, Optic atrophy OMIM:616505
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cutaneous photosensitivity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal ... ORPHA:438134
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... OMIM:220110
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure ORPHA:363400
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy, Apnea OMIM:261680
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita OMIM:607598
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Optic atrophy, Elbow flexion contracture, Respirator... OMIM:617301
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger ORPHA:1194
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Abnormal motor nerve... ORPHA:2912
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood OMIM:617186
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Tricuspid Atresia
Cyanosis ORPHA:1209
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Skeletal muscle atrophy, ... ORPHA:496641
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Cyanotic episode, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Pulmonary arterial hypertension, Congenital diaphragmatic hernia OMIM:300887
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypoplasia of the musculature, Respirato... ORPHA:2020
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Buerger Disease
Acrocyanosis ORPHA:36258
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Hsd10 Disease, Infantile Type
Cyanosis, Optic atrophy ORPHA:391428
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Optic neuropathy, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory insuffici... OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Skeletal muscle atrophy, Cyanosis, Apnea, Death in infancy, Optic neuropathy, ... OMIM:252010
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... ORPHA:563
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy ORPHA:2707
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res... ORPHA:26791
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... OMIM:613845
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Alg1-Cdg
Respiratory failure ORPHA:79327
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency OMIM:609015
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow fle... OMIM:608836
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Respiratory insufficiency ORPHA:1166
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Sandestig-Stefanova Syndrome
Respiratory failure, Camptodactyly OMIM:618804
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, Left ventricul... ORPHA:746
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:860
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx ORPHA:280210
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Aplasia/Hypoplasia of the abdomi... ORPHA:3309
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Stillbirth, Limb hypertonia OMIM:259720
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Camptodactyly of finger ORPHA:896
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Optic atrophy, Respiratory insufficiency OMIM:618329
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocy... ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Respiratory insufficiency, Spina bifida ORPHA:1120
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Limb hypertonia OMIM:619580
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Dravet Syndrome
Cyanotic episode ORPHA:33069
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Left ve... ORPHA:99106
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Myopathy, Respiratory failur... ORPHA:506
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture, Limb hypertonia OMIM:620327
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... ORPHA:254528
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm... ORPHA:2847
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... ORPHA:365
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia ORPHA:2141
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Muscular dystrophy ORPHA:88618
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Fetal Encasement Syndrome
Congenital diaphragmatic hernia OMIM:613630
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Respiratory failure, Fragile skin ORPHA:158687
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia ORPHA:380
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Joubert Syndrome 21
Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis OMIM:615636
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Respiratory insufficiency ORPHA:1488
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Dyspnea, Nonproductive cough, Recurrent p... ORPHA:980
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel... OMIM:187300
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Death in childhood, Aspiration OMIM:618651
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Myopathy, Pleural effusion OMIM:261740
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Schisis Association
Congenital diaphragmatic hernia, Spina bifida ORPHA:63862
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Acrocallosal Syndrome
Congenital diaphragmatic hernia ORPHA:36
Unilateral Polymicrogyria
Epistaxis, Cyanosis, Giant somatosensory evoked potentials, Apnea ORPHA:268943
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane... OMIM:615919
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Tarp Syndrome
Cyanosis, Optic atrophy, Apnea ORPHA:2886
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis OMIM:223900
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis, Optic atrophy, Cough ORPHA:137675
Fucosidosis
Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Myasthenia Gravis
Dyspnea, Myositis, Acrocyanosis ORPHA:589
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Rhabdomyolysis, Respiratory failure ORPHA:533
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia OMIM:300978
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Respiratory insuffic... ORPHA:273
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Spina bifida occulta, Camptodactyly of finger, Respiratory insuf... ORPHA:2311
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Rhabdomyosarcoma, Recurrent pneumonia, Respiratory failure, Cutaneous ph... ORPHA:647
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia ORPHA:2143
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c... OMIM:300868
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au... ORPHA:293987
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di... OMIM:194080
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia ORPHA:284180
Costello Syndrome
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Macroglos... OMIM:218040
Familial Dysautonomia
Orthostatic hypotension, Acrocyanosis, Optic atrophy ORPHA:1764
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Abetalipoproteinemia
Myopathy, Respiratory failure, Distal lower limb muscle weakness ORPHA:14
Emanuel Syndrome
Joint contracture, Congenital diaphragmatic hernia, Torticollis, Recurrent sinusitis OMIM:609029
Pitt-Hopkins Syndrome
Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:94065
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia, Cough ORPHA:96170
Myhre Syndrome
Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato... OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Erythema, Respiratory failure ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, Flexion contracture, S... ORPHA:96334
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Joint contracture of the hand, Congenital finger flexion contracture... ORPHA:363528
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea ORPHA:2299
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger ORPHA:2554
Congenital Heart Defects And Skeletal Malformations Syndrome
Cutis marmorata, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
Microphthalmia, Syndromic 9
Neonatal death, Diaphragmatic eventration, Congenital diaphragmatic hernia, Respiratory insuffici... OMIM:601186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia OMIM:616364
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Inflammatory myopa... ORPHA:221
Double Outlet Left Ventricle
Cyanosis, Tachypnea ORPHA:3427
Primary Hyperoxaluria
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata ORPHA:416
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Niemann-Pick Disease Type C
Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insufficiency, Respir... ORPHA:646
Craniorachischisis
Cervical spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism ORPHA:63260
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Multiple joint contractures, Congenital diaphragmatic hernia, Weak... OMIM:265000
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Proximal 16P11.2 Microdeletion Syndrome
Syringomyelia, Congenital diaphragmatic hernia ORPHA:261197
2Q37 Microdeletion Syndrome
Tracheomalacia, Congenital diaphragmatic hernia ORPHA:1001
Zaki Syndrome
Congenital diaphragmatic hernia OMIM:619648
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu... ORPHA:48435
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Seckel Syndrome 9
Asthma, Congenital diaphragmatic hernia OMIM:616777
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia ORPHA:2063
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia ORPHA:2409
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Progeroid facial appearance, Flexion contracture, Bruising susce... OMIM:208050
White-Sutton Syndrome
Facial hypotonia, Optic atrophy, Congenital diaphragmatic hernia ORPHA:468678
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Laryngotracheomalacia, Optic disc coloboma, Congenital diaphragm... OMIM:618454
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia ORPHA:1834
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Fraser Syndrome 2
Respiratory failure OMIM:617666
Cornelia De Lange Syndrome 1
Cutis marmorata, Pneumonia, Congenital diaphragmatic hernia, Optic disc coloboma, Elbow flexion c... OMIM:122470
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Focal Dermal Hypoplasia
Telangiectasia of the skin, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Campt... ORPHA:2092
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:612530
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia OMIM:222448
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
7Q11.23 Microduplication Syndrome
Tracheomalacia, Abnormal optic disc morphology, Cutis marmorata, Congenital diaphragmatic hernia ORPHA:96121
Oligomeganephronia
Optic disc coloboma, Congenital diaphragmatic hernia ORPHA:2260
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Holoprosencephaly
Congenital diaphragmatic hernia, Optic atrophy, Spinal cord tumor, Respiratory insufficiency, Spi... ORPHA:2162
Pagod Syndrome
Death in infancy, Congenital diaphragmatic hernia, Optic atrophy, Spina bifida ORPHA:991
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Congenital diaphragmatic hernia OMIM:219100
Fryns Syndrome
Aganglionic megacolon, Congenital diaphragmatic hernia ORPHA:2059
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia ORPHA:2075
Mosaic Trisomy 1
Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1692
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:251071
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:245600
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... ORPHA:287
Vacterl/Vater Association
Congenital diaphragmatic hernia ORPHA:887
Truncus Arteriosus
Cyanosis, Tachypnea, Right ventricular hypertrophy ORPHA:3384
Hypermobile Ehlers-Danlos Syndrome
Apnea, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature,... ORPHA:285
Trisomy 18
Congenital diaphragmatic hernia, Camptodactyly of finger, Spina bifida ORPHA:3380
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Opitz Gbbb Syndrome
Stridor, Congenital diaphragmatic hernia, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Cutis marmorata, Congenital diaphragmatic hernia, Optic atrophy, Cutaneous... ORPHA:818
Iniencephaly
Congenital diaphragmatic hernia, Spina bifida, Spinal dysraphism, Syringomyelia, Arthrogryposis m... ORPHA:63259
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Congenital diaphragmatic hernia ORPHA:268249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia OMIM:614080
Acrofacial Dysostosis 1, Nager Type
Urticaria, Aganglionic megacolon, Congenital diaphragmatic hernia OMIM:154400
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia ORPHA:1780
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Myocardial calcification ORPHA:51608
Wolf-Hirschhorn Syndrome
Tethered cord, Optic atrophy, Congenital diaphragmatic hernia ORPHA:280
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia OMIM:304110
Pentalogy Of Cantrell
Congenital diaphragmatic hernia ORPHA:1335
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Respiratory insufficiency OMIM:617641
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia OMIM:614294
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia OMIM:301022
Simpson-Golabi-Behmel Syndrome
Death in infancy, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of... ORPHA:373
Limb Body Wall Complex
Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal cord morphology, ... ORPHA:2369
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia OMIM:616546
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:200980
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia OMIM:313850
Focal Dermal Hypoplasia
Diastasis recti, Congenital diaphragmatic hernia, Optic atrophy, Telangiectasia, Spina bifida occ... OMIM:305600
Kabuki Syndrome
Congenital diaphragmatic hernia ORPHA:2322
Hydrolethalus Syndrome 1
Stillbirth, Agenesis of the diaphragm OMIM:236680
Monosomy 9P
Congenital diaphragmatic hernia ORPHA:261112
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Poland Syndrome
Aplasia of the pectoralis major muscle, Spina bifida occulta, Congenital diaphragmatic hernia ORPHA:2911
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Congenital diaphragmatic hernia OMIM:614437
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
C Syndrome
Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic ... ORPHA:1308
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Coffin-Siris Syndrome 1
Spina bifida occulta, Cutis marmorata, Congenital diaphragmatic hernia OMIM:135900
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia ORPHA:116
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia... OMIM:312870
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia ORPHA:2255
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia OMIM:618846
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia OMIM:600001
Cornelia De Lange Syndrome
Cutis marmorata, Congenital diaphragmatic hernia ORPHA:199
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia OMIM:157800
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finger OMIM:613406
Cardiac-Urogenital Syndrome
Tracheomalacia, Congenital diaphragmatic hernia OMIM:618280
Pallister-Killian Syndrome
Tethered cord, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Apneic episode... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clip3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clip3.

No publications found that use IMPC mice or data for Clip3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Clip3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clip3tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clip3tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clip3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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