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Gene: Gsx2 MGI:95843

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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:
GS homeobox 2
Synonyms:
Gsh2,  Gsh-2

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 Gsx2 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 Gsx2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
OMIM:618646

The table below shows human diseases predicted to be associated to Gsx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Cerebellar vermis hypoplasia, Apnea OMIM:610992
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Ventriculomegaly OMIM:611722
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Cerebellar hypoplasia OMIM:615228
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia OMIM:617055
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation... OMIM:207950
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia OMIM:616490
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Episodic tachypnea... ORPHA:163961
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Apnea, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Hypop... ORPHA:2524
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Cerebellar hypopla... ORPHA:168486
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ... ORPHA:1302
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Apnea, Tachypnea, Superior cerebellar dysplasia, V... OMIM:617622
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Apnea, Dandy-Walker malformation, Dysphagia OMIM:617235
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasia ORPHA:166063
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Ventriculomegaly OMIM:612285
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Pontocerebellar Hypoplasia, Type 16
Apnea, Hypoplasia of the pons, Cerebellar hypoplasia, Dysphagia, Ventriculomegaly OMIM:619527
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Erythema, Lateral ventricle dilatation, Neonatal death OMIM:610015
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Ventriculomegaly, Apnea, Respiratory insufficiency OMIM:617290
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Pontocerebellar Hypoplasia, Type 6
Cerebellar atrophy, Cerebellar vermis hypoplasia, Apnea, Cerebellar hypoplasia, Death in childhood OMIM:611523
Ravine Syndrome
Apnea, Anorexia ORPHA:99852
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Apnea, Respiratory insufficiency OMIM:618228
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attentio... OMIM:619580
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Agitation, Bruxism, Recurrent hand flapping, Ventriculomegaly, Hyperventilation OMIM:617903
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Episodic tachypnea... OMIM:608629
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Apnea, Respiratory insufficiency, Dysphagia OMIM:618226
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Re... OMIM:618291
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Stereotypical hand wringing ORPHA:500545
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Cerebellar hypoplasia, Aspiration pneumonia, Dy... OMIM:618253
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cerebellar atrophy, Apnea, Ventriculomegaly OMIM:619797
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetiti... ORPHA:79264
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Agenesis of corpus callosum, Ventriculomegaly, Apneic episodes precipitated ... OMIM:312170
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Agenesis of corpus callosum, A... ORPHA:220497
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Hereditary Methemoglobinemia
Cerebellar atrophy, Cyanosis, Exertional dyspnea ORPHA:621
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Dysphagia OMIM:618198
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Apnea, Inspiratory stridor OMIM:600721
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Cerebellar atrophy ORPHA:320385
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... ORPHA:137914
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia OMIM:615771
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Folinic Acid-Responsive Seizures
Respiratory distress, Cerebellar atrophy, Apnea ORPHA:79097
Developmental And Epileptic Encephalopathy 99
Central apnea, Cerebellar atrophy, Ventriculomegaly OMIM:619606
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Agenesis of corpus callosum, A... ORPHA:220493
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... ORPHA:3095
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Apnea, Ventricu... ORPHA:397715
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
48,Xxyy Syndrome
Apnea, Asthma, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ventricu... ORPHA:10
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Apneic episodes in infancy, Cerebellar hy... ORPHA:3078
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Hydrocephalus, Abnormal p... ORPHA:475
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... OMIM:220220
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Dysphagia OMIM:256030
Joubert Syndrome 7
Central apnea, Encephalocele, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Breath-Holding Spells
Cyanosis OMIM:607578
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Tachypnea ORPHA:2318
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Ventriculomegaly OMIM:618222
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Recurrent pneumonia, Later... OMIM:617751
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Lateral ventricle dilatation, Dysphagi... ORPHA:488627
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
Pontocerebellar Hypoplasia, Type 7
Apnea, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:614969
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Cyanosis, Apnea, Death i... OMIM:618426
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul... OMIM:613443
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Tenorio Syndrome
Hydrocephalus, Recurrent pneumonia, Apnea, Ventriculomegaly OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Cerebellar atrophy, Aggressive behavior, Compulsive behaviors, Dysphagia, Olivopon... OMIM:615157
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:137754
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebellar hypoplasia, Respiratory insufficiency OMIM:618886
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla... OMIM:616482
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Resp... OMIM:617248
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Joubert Syndrome 1
Central apnea, Enlarged fossa interpeduncularis, Hyperactivity, Cerebellar vermis hypoplasia, Age... OMIM:213300
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
Joubert Syndrome 2
Central apnea, Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ep... OMIM:608091
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ventriculomegaly, Apnea, Dysphagia, Neonatal death, Petechiae, Purpura OMIM:608013
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Dysphagia OMIM:617143
Tetrasomy 5P
Respiratory distress, Cyanosis, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arterial hyperten... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency, Aggressive behavior OMIM:608093
Joubert Syndrome 33
Apnea OMIM:617767
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebellar gliosis, Apneic episodes in infancy, A... ORPHA:35069
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Ventriculomegaly, Dysphagia OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea, Anorexia OMIM:241500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Myotonia Fluctuans
Stridor, Apnea, Choking episodes ORPHA:99734
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Abnormal cerebellum morphology, Agitation, Apnea OMIM:618056
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Inferior cerebellar vermis hypoplasia, Dilated fourth ventricle, Retrocerebel... OMIM:614831
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea, Bruxism OMIM:300055
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Hydrocephalus, Aplasia/Hypoplasia o... ORPHA:1454
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion OMIM:261740
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Apnea, Ventriculomegaly ORPHA:395
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Partial agene... ORPHA:171680
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Tricuspid Atresia
Cyanosis ORPHA:1209
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Breathi... OMIM:610688
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Dysphagia, Elongated... OMIM:615636
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Orofaciodigital Syndrome Xvi
Apnea, Ventriculomegaly OMIM:617563
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Buerger Disease
Acrocyanosis ORPHA:36258
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Inferior ... ORPHA:370022
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Agenesis of cerebellar vermis, Episodic tachypnea, Aggres... OMIM:610188
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Rett Syndrome
Apnea, Bruxism, Stereotypical hand wringing, Intermittent hyperventilation OMIM:312750
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Progeroid facial appearance, Dysplastic c... ORPHA:357058
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency, Impaired oropharyngeal swallow response, Ventriculomegaly, Cere... ORPHA:521426
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Agenesis of cerebellar vermis, Apnea, Cere... OMIM:609069
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walk... OMIM:614175
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Stridor, Dysphagia, Recurrent aspiration pneumonia OMIM:230900
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Microtia-Anotia
Holoprosencephaly OMIM:600674
Fatal Familial Insomnia
Apnea, Dysphagia OMIM:600072
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mucopolysaccharidosis Type 1
Hydrocephalus, Sinusitis, Apnea, Cough ORPHA:579
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Apnea, Respiratory insufficiency, Dysphagia OMIM:617527
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Apnea, Death in childhood OMIM:214110
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Marshall-Smith Syndrome
Apnea, Hydrocephalus, Stridor, Agenesis of corpus callosum, Cerebellar hypoplasia, Aspiration pne... OMIM:602535
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... ORPHA:2131
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Cough, Cerebellar malformation, Agenesis of corpus callosum ORPHA:137675
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly OMIM:619879
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Chiari malformation, Apnea, Ventriculomegaly ORPHA:2462
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Glass Syndrome
Restlessness, Hyperactivity, Apnea, Aggressive behavior, Frequent temper tantrums OMIM:612313
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory fai... OMIM:252010
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... ORPHA:90051
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Mosaic Variegated Aneuploidy Syndrome
Apnea, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation, Ventri... ORPHA:1052
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Apnea, Pseudobulbar paralysis, Dysphag... ORPHA:98889
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis atrophy ORPHA:1170
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, ... OMIM:225750
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Biotinidase Deficiency
Diffuse cerebellar atrophy, Tachypnea, Apnea OMIM:253260
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Osteopathia Striata With Cranial Sclerosis
Apnea, Hydrocephalus, Partial agenesis of the corpus callosum, Tracheomalacia, Spina bifida occulta OMIM:300373
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:98793
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177904
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... ORPHA:177901
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Apnea, Aggressive behavior, Bruxism, Hyperventilation OMIM:617799
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, P... OMIM:601559
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Anorexia ORPHA:20
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphag... ORPHA:98754
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Apnea, Cardiorespiratory arrest OMIM:608643
Tarp Syndrome
Cyanosis, Apnea, Cerebellar hypoplasia ORPHA:2886
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Cerebellar vermis hypoplasia, Dilated fourth ventricle ORPHA:251347
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Illum Syndrome
Apnea OMIM:208155
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Unilateral Polymicrogyria
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis ORPHA:268943
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hydrocephalus, Chronic rhinitis, Pulmonary arterial hypertension, Bruising susceptibility ORPHA:667
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aggressive behavior, ... ORPHA:572798
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia OMIM:619482
Semilobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Dysphagia, Attention defi... ORPHA:93924
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Genitopatellar Syndrome
Agenesis of corpus callosum, Apnea ORPHA:85201
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Dysphagia, Urticaria, Cough, Acroc... ORPHA:183
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea ORPHA:2754
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... ORPHA:31826
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Bohring-Opitz Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Apnea, Dandy-Walker malformation ORPHA:97297
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... OMIM:114290
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation ORPHA:255210
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Spinocerebellar Ataxia 2
Cerebellar atrophy, Olivopontocerebellar atrophy, Dilated fourth ventricle, Dysphagia OMIM:183090
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial hypertension, ... OMIM:300855
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Necrotizing Enterocolitis
Apnea ORPHA:391673
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Xp21 Deletion Syndrome
Apneic episodes in infancy, Agenesis of corpus callosum ORPHA:261476
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis OMIM:617478
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia OMIM:109150
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Olivopontocerebellar atrophy, Dilated fourth ventricle, Dysphagia OMIM:164400
Chronic Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529808
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Respiratory insufficiency, Attention deficit hyperactivity disorder, Pul... ORPHA:800
Acute Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529799
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Repetitive compulsive behavior, Self-biting, Abnormal repetitive mannerisms, Self-... ORPHA:522077
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar ... OMIM:306955
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Machado-Joseph Disease Type 1
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia ORPHA:276241
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior ORPHA:17
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:261183
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... ORPHA:293987
Slc39A8-Cdg
Cerebellar atrophy, Sudden episodic apnea, Ventriculomegaly ORPHA:468699
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Dyspnea, T... OMIM:243910
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Respiratory insuf... OMIM:615574
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Death in infancy, Cerebellar vermis hypoplasia, Oli... OMIM:212065
Machado-Joseph Disease Type 3
Cerebellar atrophy, Dilated fourth ventricle, Dysphagia ORPHA:276244
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Impulsivity, Asthma, E... OMIM:619503
Zaki Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia OMIM:619648
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypoplasia of the pons, Cerebellar hypoplasia, Intermittent hyperventilation, Dilated fourth vent... OMIM:300749
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Pitt-Hopkins Syndrome
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... ORPHA:2896
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Wolfram Syndrome
Central apnea, Polydipsia, Respiratory insufficiency ORPHA:3463
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Rhombencephalosynapsis, Cerebellar vermis hypoplasia, Cerebellar hypopl... OMIM:619306
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Dysphagia, Stereotypical h... ORPHA:438213
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Ventriculomegaly, Prolonged neonatal jaundice ORPHA:51
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:619869
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dilated third ventricle, Dandy... ORPHA:434179
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Ventriculomegaly OMIM:303600
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Dilated fourth ventricle, Ventriculomegaly, Cerebellar vermis hypoplasia, C... ORPHA:480880
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Ventriculomegaly, Hyperventilation OMIM:601803
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
OMIM:618646

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 Gsx2

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 Gsx2.

No publications found that use IMPC mice or data for Gsx2.

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