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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
Apnea, Cerebellar vermis hypoplasia, Death in infancy, Cyanotic episode OMIM:610992
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cyanosis, Chiari malformation, Inspiratory stridor, Dysphagia, S... OMIM:207950
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Death in infancy, Ventriculomegaly, Respiratory failure OMIM:611722
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency, Ventriculomegaly OMIM:617290
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Joubert Syndrome 23
Apnea, Dysplastic corpus callosum, Cerebellar dysplasia, Tachypnea OMIM:616490
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar atrophy, Neonatal... ORPHA:168486
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata... ORPHA:1136
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Episodic tachypnea, Apneic episodes in infancy, Agenesis of cerebellar vermis, Cer... ORPHA:163961
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Cerebellar hypoplasia OMIM:615228
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Joubert Syndrome 30
Apnea, Superior cerebellar dysplasia, Tachypnea, Ventriculomegaly, Cerebellar atrophy, Dandy-Walk... OMIM:617622
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Pontocerebellar Hypoplasia Type 2
Apnea, Dysplastic corpus callosum, Impaired oropharyngeal swallow response, Cerebellar hypoplasia... ORPHA:2524
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood, Cerebellar hypoplasia, Cerebellar atrophy OMIM:611523
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Apneic episodes in infancy OMIM:619111
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy, Ventriculomegaly OMIM:617248
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... ORPHA:91359
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasia, Central apnea ORPHA:166063
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Cerebellar atrophy, Respiratory failure OMIM:610127
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Joubert Syndrome 9
Apnea, Encephalocele, Episodic tachypnea, Ventriculomegaly OMIM:612285
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... ORPHA:2302
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Apnea, Respiratory insufficiency, Cerebellar atrophy OMIM:618226
Pontocerebellar Hypoplasia, Type 16
Apnea, Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly, Dysphagia OMIM:619527
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... OMIM:610921
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Pyruvate Dehydrogenase E1-Alpha Deficiency
Agenesis of corpus callosum, Ventriculomegaly, Apneic episodes precipitated by illness, fatigue, ... OMIM:312170
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Cerebellar atrophy ORPHA:621
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Ravine Syndrome
Apnea ORPHA:99852
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... OMIM:610913
Breath-Holding Spells
Cyanosis OMIM:607578
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Myoclonus, Intractable, Neonatal
Dysphagia, Apnea OMIM:617235
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Respiratory insufficiency OMIM:618198
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Encephalocel... ORPHA:220497
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Ventriculomegaly, Cerebellar atrophy OMIM:619797
Nemaline Myopathy 2
Dysphagia, Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth ventricle, ... ORPHA:370959
Acute Interstitial Pneumonia
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... ORPHA:79126
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Central apnea ORPHA:320385
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Cyanosis, Lateral ventricle dilatation, Ventriculomegaly, Dysphagia ORPHA:488627
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Cerebellar atrophy, Dysphagia ORPHA:79264
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Cerebellar atrophy ORPHA:79097
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Joubert Syndrome With Ocular Defect
Apnea, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Encephalocel... ORPHA:220493
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Apneic episodes in infancy, Cerebellar hypoplasia, Lateral ventricle di... ORPHA:3078
Joubert Syndrome
Apnea, Hydrocephalus, Episodic tachypnea, Cerebellar vermis hypoplasia, Abnormal pattern of respi... ORPHA:475
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Erythema, Neonatal death OMIM:610015
Developmental And Epileptic Encephalopathy 99
Ventriculomegaly, Cerebellar atrophy, Central apnea OMIM:619606
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Episodic tachypnea, Central apnea, Cerebellar vermis hypo... OMIM:608629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Apnea, Abnormal cerebellum morphology, Colpocephaly, Dila... ORPHA:397715
Tetrasomy 5P
Respiratory distress, Hydrocephalus, Cyanosis, Cerebellar hypoplasia, Pulmonary arterial hyperten... ORPHA:3309
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Hydrocephalus, Pulmonary arterial hypertension, Central apnea OMIM:616482
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy, Ventriculomegaly OMIM:618222
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Apnea, Ventriculomegaly OMIM:608809
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Joubert Syndrome With Oculorenal Defect
Apnea, Hydrocephalus, Tachypnea, Cerebellar vermis hypoplasia, Encephalocele ORPHA:2318
Joubert Syndrome 7
Episodic tachypnea, Central apnea, Tachypnea, Neonatal breathing dysregulation, Encephalocele OMIM:611560
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Retrocerebel... OMIM:614831
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation, Ventriculomegaly OMIM:617903
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Cyanotic episode ORPHA:284417
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Gaucher Disease, Type Ii
Dysphagia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... ORPHA:95430
Pontocerebellar Hypoplasia, Type 7
Apnea, Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Ventriculomegaly OMIM:614969
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Meckel Syndrome, Type 10
Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walk... OMIM:614175
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Tricuspid Atresia
Cyanosis ORPHA:1209
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Pseudo-Torch Syndrome 3
Cerebellar hypoplasia, Apnea, Respiratory insufficiency, Death in infancy OMIM:618886
48,Xxyy Syndrome
Apnea, Asthma, Ventriculomegaly ORPHA:10
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Tenorio Syndrome
Apnea, Hydrocephalus, Ventriculomegaly, Pneumonia OMIM:616260
Joubert Syndrome 33
Apnea OMIM:617767
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:137754
Pulmonary Capillary Hemangiomatosis
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... ORPHA:199241
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Progressive ventriculomegaly, Cutis marmorata, Cerebellar hypoplasia, Death in infancy OMIM:602613
Buerger Disease
Acrocyanosis ORPHA:36258
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Apnea, Cerebellar hypoplasia, Death in infancy, Cerebellar a... OMIM:609069
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Ventriculomegaly, Dysphagia OMIM:608013
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis, Ventriculomegaly, Cerebellar atrophy OMIM:619580
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Episodic tachypnea, Dysgenesis of the cere... OMIM:608091
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Tracheobron... OMIM:617751
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Progeroid facial appearance, Excessive wrinkled skin, Abnormal cerebe... ORPHA:357058
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Apnea, Hypoventilation, Stridor OMIM:617143
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Myotonia Fluctuans
Apnea, Stridor, Choking episodes ORPHA:99734
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea, Abnormal cerebellum morphology, Cerebellar atrophy OMIM:618056
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Ventriculomegaly, Neonatal respiratory distre... OMIM:608836
Myopathy, Congenital, Nonprogressive
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Ventriculomegaly, Dysphagia, Respiratory fa... ORPHA:70474
Histiocytoid Cardiomyopathy
Hydrocephalus, Cyanosis, Cough, Tachypnea, Cerebellar malformation, Agenesis of corpus callosum ORPHA:137675
Meckel Syndrome 14
Holoprosencephaly, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Occipital encephalocele OMIM:619879
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Breathing dysregulation, Cerebe... OMIM:610688
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Apnea, Respiratory failure, Ventriculomegaly OMIM:617301
Joubert Syndrome With Hepatic Defect
Apnea, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Cerebellar vermis hypoplasia, Abnorma... ORPHA:1454
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... ORPHA:60025
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Infantile Neuroaxonal Dystrophy
Cerebellar gliosis, Aspiration pneumonia, Apneic episodes in infancy, Cerebellar atrophy, Choking... ORPHA:35069
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Hydrocephalus, Ventriculomegaly ORPHA:395
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy ORPHA:1170
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Ventriculomegaly, Dyspnea, ... ORPHA:348
Microtia-Anotia
Holoprosencephaly OMIM:600674
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Orofaciodigital Syndrome Xvi
Apnea, Ventriculomegaly OMIM:617563
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Jaundice OMIM:608093
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... ORPHA:1329
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy OMIM:241500
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Episodic tachypnea, Dysgenesis of the cerebellar vermis, ... OMIM:213300
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation, Hypoventilation OMIM:209880
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:251347
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Joubert Syndrome 21
Elongated superior cerebellar peduncle, Apnea, Occipital encephalocele, Dyspnea OMIM:615636
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Mucopolysaccharidosis Type 1
Apnea, Hydrocephalus, Sinusitis, Cough ORPHA:579
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood, Jaundice OMIM:214110
Fatal Familial Insomnia
Dysphagia, Apnea OMIM:600072
Marshall-Smith Syndrome
Apnea, Hydrocephalus, Airway obstruction, Aspiration pneumonia, Death in childhood, Cerebellar hy... OMIM:602535
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea ORPHA:439218
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Dysphag... ORPHA:183
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Propionic Acidemia
Apnea, Tachypnea OMIM:606054
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio... ORPHA:99106
Plaa-Associated Neurodevelopmental Disorder
Apnea, Impaired oropharyngeal swallow response, Respiratory insufficiency, Ventriculomegaly, Cere... ORPHA:521426
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Ventriculom... ORPHA:572798
Dravet Syndrome
Cyanotic episode ORPHA:33069
Spinocerebellar Ataxia 2
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy OMIM:183090
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... ORPHA:1199
Shprintzen-Goldberg Syndrome
Apnea, Chiari malformation, Ventriculomegaly, Communicating hydrocephalus ORPHA:2462
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Cerebellar calcifications, Acrocyanosis OMIM:225750
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Hyperekplexia 3
Apnea OMIM:614618
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Apnea, Respiratory insufficiency, Ventriculomegaly OMIM:617527
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Respiratory insufficiency, Death in infancy, Cerebellar atrophy, Respiratory fai... OMIM:252010
Joubert Syndrome 5
Episodic tachypnea, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, C... OMIM:610188
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy OMIM:617478
Mosaic Variegated Aneuploidy Syndrome
Apnea, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Ventriculomegaly, Dandy-Walker ma... ORPHA:1052
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Biotinidase Deficiency
Apnea, Diffuse cerebellar atrophy, Tachypnea OMIM:253260
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Machado-Joseph Disease
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Spinocerebellar Ataxia 1
Dysphagia, Dilated fourth ventricle, Spinocerebellar atrophy, Olivopontocerebellar atrophy OMIM:164400
Osteopathia Striata With Cranial Sclerosis
Apnea, Hydrocephalus, Tracheomalacia, Spina bifida occulta, Partial agenesis of the corpus callosum OMIM:300373
Bilateral Perisylvian Polymicrogyria
Apnea, Pseudobulbar paralysis, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, Cerebel... ORPHA:98889
Myasthenia Gravis
Dysphagia, Dyspnea, Acrocyanosis ORPHA:589
Arima Syndrome
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... OMIM:243910
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea ORPHA:31826
Tarp Syndrome
Apnea, Cyanosis, Cerebellar hypoplasia ORPHA:2886
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Death in infancy, Premature skin wrinkling, Dysphagia, Pulmonar... OMIM:601559
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Aspiration, Dysphagia, Oral-pharyngeal dysphagia ORPHA:2131
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Acrocyanosis, Erythema ORPHA:343
Machado-Joseph Disease Type 1
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:276241
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... OMIM:619306
Unilateral Polymicrogyria
Epistaxis, Apnea, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Autosomal Recessive Malignant Osteopetrosis
Apnea, Hydrocephalus, Bruising susceptibility, Chronic rhinitis, Pulmonary arterial hypertension ORPHA:667
Bohring-Opitz Syndrome
Apnea, Ventriculomegaly, Agenesis of corpus callosum, Dandy-Walker malformation, Obstructive slee... ORPHA:97297
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea ORPHA:98754
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Erythema, Aspiration, Neonatal respiratory distress, Stridor OMIM:614653
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypoplasia... OMIM:212065
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea ORPHA:177901
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... ORPHA:980
Genitopatellar Syndrome
Apnea, Agenesis of corpus callosum ORPHA:85201
Illum Syndrome
Apnea OMIM:208155
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Cyan... OMIM:187300
Machado-Joseph Disease Type 3
Dysphagia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:276244
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Respiratory distress, Hydrocephalus, Aqueductal stenosis, Cyanosis, Cerebellar ... OMIM:306955
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Polydipsia, Central hypoventilation, Cyanosis, Polyphagia, Cardiorespiratory arrest, Hypo... ORPHA:293987
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Semilobar Holoprosencephaly
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Aspiration pneumonia, Chronic lung disease, Neural tube defect, Central apnea, Dys... ORPHA:93924
Campomelic Dysplasia
Respiratory distress, Apnea, Hydrocephalus, Tracheomalacia, Tracheobronchomalacia, Spinal dysraph... OMIM:114290
Orofaciodigital Syndrome Type 6
Apnea, Cerebellar vermis hypoplasia, Episodic tachypnea ORPHA:2754
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Hyperventilation, Dysphagia, Dyspnea ORPHA:255210
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Prader-Willi-Like Syndrome
Bulimia, Central apnea, Polyphagia, Ventriculomegaly, Obstructive sleep apnea ORPHA:398073
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Dysphagia, Hypoventilation OMIM:619482
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Intermittent hyperventilation, Hypoplasia of the pons, Cerebellar hypop... OMIM:300749
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Poems Syndrome
Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Zaki Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle OMIM:619648
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Jaundice, Tachypnea ORPHA:20
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation, Cerebellar atrophy OMIM:617799
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Ventriculomegaly, Aspiration, Restrictive v... OMIM:300855
Necrotizing Enterocolitis
Apnea ORPHA:391673
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Xp21 Deletion Syndrome
Agenesis of corpus callosum, Apneic episodes in infancy ORPHA:261476
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Central apnea, Respiratory failure requiring assisted ventilation, Tachypnea, Neonatal re... ORPHA:79345
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea ORPHA:529799
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Fucosidosis
Vascular skin abnormality, Acrocyanosis ORPHA:349
Aromatic L-Amino Acid Decarboxylase Deficiency
Cardiorespiratory arrest, Apnea OMIM:608643
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... OMIM:600376
Slc39A8-Cdg
Sudden episodic apnea, Ventriculomegaly, Cerebellar atrophy ORPHA:468699
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Schwartz-Jampel Syndrome
Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy ORPHA:800
Meckel Syndrome, Type 1
Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dilated fourth ventricle, Chiari malformation,... OMIM:249000
Goodpasture Syndrome
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... OMIM:233450
Pitt-Hopkins Syndrome
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea ORPHA:2896
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Aicardi-Goutières Syndrome
Cutis marmorata, Arrhinencephaly, Ventriculomegaly, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension ORPHA:99050
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, Hyperventilation, Central apnea ORPHA:522077
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Wolfram Syndrome
Respiratory insufficiency, Polydipsia, Central apnea ORPHA:3463
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... ORPHA:740
Orofaciodigital Syndrome Type 14
Sleep apnea, Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus ca... ORPHA:434179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Dysphagia, Hypoventila... ORPHA:438213
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Asthma, Apnea, Urticaria, Erythema, Facial erythema, Ventric... OMIM:619503
Dermatomyositis
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Pulm... ORPHA:221
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Cyanosis, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failu... ORPHA:99125
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis ORPHA:48435
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma ORPHA:3206
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis, Ventriculomegaly OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Orofaciodigital Syndrome Type 2
Apnea, Tachypnea ORPHA:2751
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellum, Cerebellar ... ORPHA:480880
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... ORPHA:287
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle OMIM:619869
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Pallister-Killian Syndrome
Hyperventilation, Stillbirth, Ventriculomegaly, Apneic episodes in infancy 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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